Home Browse SMARCB1/INI1-deficient tumors of adulthood
ALL Metrics
-
Views
-
Downloads
Get PDF
Get XML
Cite
Export
Track
▬
✚
Review
Revised

SMARCB1/INI1-deficient tumors of adulthood

[version 2; peer review: 2 approved]
Nathaniel A. Parker
https://orcid.org/0000-0002-5519-7758
1, Ammar Al-Obaidi
https://orcid.org/0000-0001-5946-393X
1, Jeremy M. Deutsch2
Nathaniel A. Parker
https://orcid.org/0000-0002-5519-7758
1, Ammar Al-Obaidi
https://orcid.org/0000-0001-5946-393X
1, Jeremy M. Deutsch2
PUBLISHED 09 Dec 2020
Author details Author details
OPEN PEER REVIEW
REVIEWER STATUS

Abstract

The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

Keywords

SMARCB1, INI1, loss of function mutation, rhabdoid, sarcoma

Corresponding author: Nathaniel A. Parker
Competing interests: No competing interests were disclosed.
Grant information: The author(s) declared that no grants were involved in supporting this work.
Copyright:  © 2020 Parker NA et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
How to cite: Parker NA, Al-Obaidi A and Deutsch JM. SMARCB1/INI1-deficient tumors of adulthood [version 2; peer review: 2 approved]. F1000Research 2020, 9:662 (https://doi.org/10.12688/f1000research.24808.2) First published: 30 Jun 2020, 9:662 (https://doi.org/10.12688/f1000research.24808.1) Latest published: 09 Dec 2020, 9:662 (https://doi.org/10.12688/f1000research.24808.2)

Revised Amendments from Version 1

I thoroughly appreciated reviewing the comments of the Peer Reviewer. All suggestions have been addressed and the appropriate changes have been made, including minor grammatical changes and clarification of definitions. Thank you for the feedback.

To read any peer review reports and author responses for this article, follow the "read" links in the Open Peer Review table.

History of the SMARCB1/INI1 Gene

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), also known as integrase interactor 1 (INI1), is a crucial component of a chromatin-remodeling protein complex. SMARCB1/INI1 was first identified in yeast in the late 1980s1. By 1994, its human homologue was isolated in fibroblast cells2,3. Subsequent molecular investigations showed this nuclear protein complex enhances DNA transcription by interactions with HIV-1 integrase2. Nuclear SMARCB1/INI1 exists ubiquitously in all normal cells, and acts as a tumor suppressor gene4. It was revealed in the early 2000s by studies in mice that biallelic knockout of the SMARCB1/INI1 gene resulted in early lethality5. Mice with heterozygous loss before birth, or who had later conditional single-allele knockout after birth, of SMARCB1/INI1 developed aggressive rhabdoid tumors6–8. Since its discovery, much work has revealed this chromatin-remodeling protein has crucial roles in multiple signaling pathways that function to suppress tumorigenesis and tumor growth9. Although these pathways are highly complex, the development and use of targeted anti-cancer therapies has practically become ubiquitous for nearly all solid tumors. Thus, continued investigations are needed if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors9.

Interestingly, the genetic signatures of SMARCB1/INI1-deficient tumors are far from monotonous. Three distinct patterns of abnormal SMARCB1/INI1 gene expression have been identified – reduced, complete loss, and mosaic9.

Epidemiology, clinical, prognosis

Complete loss of SMARCB1/INI1 expression has been linked to a number of pediatric and adult sarcomas (Table 1). Malignant rhabdoid tumor (MRT) and epithelioid sarcoma (ES) both result from biallelic deletions or mutations causing a complete loss of SMARCB1/INI1 expression41. Commonly arising before the age of three years old, MRTs are considered one of the most aggressive childhood neoplasms associated with high mortality41. MRTs have been reported in adults42–49. Based on MRT of adulthood being primarily reported anecdotally, estimated rates of incidence remain unclear. Data concerning the 5-year survival rate for MRT in adults is difficult to determine as well, as various percentages have been reported in literature13,14. However, estimated average survival following MRT diagnosis has been reported to be six months10.

Table 1. Epidemiologic, selected clinical, and prognostic data for SMARCB1/INI1-deficient tumors.

STS, soft tissue sarcomas; MRT, malignant rhabdoid tumor; CNS, central nervous system; MPNST, malignant peripheral nerve sheath tumor; NF-1, neurofibromatosis type 1; NF-2; neurofibromatosis type 2, GI, gastrointestinal; NA, data not available.

Epidemiology, ClinicalSurvival
Reduced
expression		Synovial sarcoma5 – 10% of all STS; median age of 40 years; males10,115-year, 36–76%11
Complete lossMalignant rhabdoid tumorTypically < 3 years of age11; typically presents
intraabdominally in adult males10,12		MRT: 5-year, 15 – 20%13;
extrarenal rhabdoid
tumor: 5-year, 35%14
Atypical teratoid/rhabdoid
tumor		Typically < 3 years of age; 10% of CNS tumors in infants1220 months15,16
Epithelioid sarcoma< 1% of all STS; median age of 27 years, males175-year, 68% (all ages)18
Renal medullary carcinomaThird most common kidney cancer among children
and young adults; median age of 28 years; males19,20		Overall survival less than
12 months19
Epithelioid malignant
peripheral nerve sheath
tumor		< 1% of all STS; < 5% of all MPNSTs; aggressive MPNST
variant; unlike MPNST uncommonly associated with NF-1;
median age > 40 years21,22		5-year, 34 – 43%22
Myoepithelial carcinomaAbout 70% occur in parotid gland; median age of
55 years23		5-year, 71%24
Extraskeletal myxoid
chondrosarcoma		< 3% of all STS; median age of 50 years; males255-year, 80 – 90%25
ChordomaMedian age of 50 – 60 years in adults, males; median age of
10 – 12 years in children, females26,27		5-year, 70%28
Pancreas undifferentiated
rhabdoid carcinoma		Heterogeneous group of neoplasms; poorly characterized29NA
Sinonasal basaloid carcinoma< 5% of all head/neck cancers; 0.5 cases per 100,000
population per year; males30		Median overall survival
17 months31
Rhabdoid carcinoma of the
gastrointestinal tract		About 0.1% of all gastric cancers; < 50 cases reported in the
upper and lower GI tract32,33		Overall survival six
months33
Mosaic
expression		SchwannomatosisThird major form of neurofibromatosis; distinct from NF-1
and NF-2; median age of 40 years; 20% familial34		NA
Gastrointestinal stromal
tumor		5% of all STS, 80% of all mesenchymal GI tract tumors;
median age of 60 years35–37		5-year, 83%38
Ossifying fibromyxoid
tumor		Only 300 cases reported worldwide; median age of 50 years;
males39,40		NA

ES is now categorized into two subgroups: distal and proximal. Conventional or distal-type ES tends to be histologically similar squamous cells. Also, distal-type ES immunohistochemical (IHC) profiles can be diverse. Proximal-type ES is thought to be the more aggressive variant, and has an affinity for the proximal limbs of young adults. Microscopically, sheets of large rhabdoid tumor cells are predominantly observed50. Based on more recent clinicopathologic and IHC data, many tumors that were previously diagnosed as a MRT are now classified as proximal ES51.

In addition to ES, atypical teratoid/rhabdoid tumor, renal medullary carcinoma, and pediatric chordoma are rare sarcomas that result from the complete loss of SMARCB1/INI1 expression (Table 1). They predominantly occur in pediatric or young adult patients. Collectively, these neoplasms typically develop in the head/neck, CNS, thorax, kidneys, other visceral organs, retroperitoneum, trunk, and extremities12,17,19,26,52. Exceedingly rare SMARCB1/INI1-deficient tumors that occur more commonly in adults include synovial sarcomas, epithelioid malignant peripheral nerve sheath tumor, myoepithelial carcinoma, extraskeletal myxoid chondrosarcoma, chordoma, schwannomatosis, gastrointestinal stromal tumors (GIST), and ossifying fibromyxoid tumor (Table 1). On light microscopy, these sarcomatous neoplasms exist on a morphological spectrum. Tissue specimens are often composed of epithelioid or rhabdoid cells53. However, other morphologic patterns have been described50. Thus, the diagnosis of SMARCB1/INI1-deficient tumors can be difficult based on their polyphenotypic variation4. SMARCB1/INI1 immunostaining can be used to confirm the diagnosis of an epithelioid or rhabdoid sarcoma because loss of SMARCB1/INI1 expression is rarely observed in other tumor types54,55. Thus, in the absence of this genetic alteration, other malignant soft tissue tumors with epithelioid-like morphologies can be more confidently ruled out, such as melanoma, rhabdomyosarcoma, and undifferentiated carcinoma.

Aside from SMARCB1/INI1-deficient tumors sharing an aberration in the same gene, the relationship between these malignancies remains unclear. Following diagnosis in any age or organ, nearly all SMARCB1/INI1-deficient malignancies characteristically follow an aggressive clinical pattern and prognosis is often poor (Table 1). Survival rates are often reportedly low, but they may not be accurate given low rates of incidence, and considerations for newer treatments. Also, survival can be highly dependent on surgical intervention and completeness of tumor resection, especially for chordomas. GIST are the most common sarcomas of the gastrointestinal (GI) tract. They commonly develop in the sixth decade of life and have no gender predominance35. Following the diagnosis of a GIST, survival rates are highly variable and depend on specific biologic characteristics of the tumor, the type of treatment, and the risk of post-treatment recurrence36.

Challenges in retrospective data collection for adult cases of SMARCB1/INI-deficient tumors

Recently, the term “rhabdoid tumor” has become synonymous with tumors that harbor loss of function mutations in the SMARCB1/INI1 gene56. We reviewed the literature and found a paucity of cases reporting SMARCB1/INI1 genetic aberrations in adult patients with sarcomas. A total of 450 cases of rare sarcomas were found to be described in single case reports, case series, or systematic reviews published between the years 2000 – 2020 (Table 2)57–92. This number is likely far lower than the actual accounts of reported sarcoma cases in the literature. However, reports were excluded if it was apparent the case did not meet our inclusion criteria based on the publicly-available title or abstract information. Despite the SMARCB1/INI1 gene being discovered in the mid-1990s, the majority of previous reports were excluded for not mentioning the tumor’s SMARCB1/INI1-deficiency status. Also, tumor occurrence in the pediatric patient population accounted for multiple exclusions.

Table 2. Excluded rare sarcomas in adults reported in single case reports, case series, or systematic reviews, 2000–2020.

Exclusion criteria were as follows: 1.) individual patient age could not be confirmed; 2.) pediatric study population (less than 18 years of age); 3.) absence of documentation noting the loss of SMARCB1/INI1 expression by immunohistochemistry or genetic studies; 4.) intact SMARCB1/INI1 expression by immunochemistry or genetic studies; and 5.) non-sarcomatous histologic tumor type. PMID, PubMed Central © unique article identifier; GU, genitourinary; PNS, peripheral nervous system; GI, gastrointestinal.

ArticlePMIDCases,
no.		Tumor
site		Exclusion
reason		ArticlePMIDCases,
no.		Tumor
site		Exclusion
reason
Zhang et al., 201957319337811scalp3Weisskopf et al., 200675164749441spine2,3
Kubota et al., 201958310347221GU2Onol et al., 200676163437341GU3
Kolin et al., 201859297004185GU4Zevallos-G. et al.,
200577		160822462perineum 3
Kim et al., 201860302357751brain3Masunaga et al.,
200478		152608531lung3
Strehl et al., 2015612592093925GU3Chang et al., 200479147138331GI2
Santos et al., 201362237932151pelvis3Altundag et al., 200480155799211GU3
Patrizi et al., 201363238864031GU3Lee et al., 200481146752881pelvis3
Zhao et al., 201349237610281renal3Peng et al., 200344129462141renal3
Tocco et al., 201264233598421scalp3Hanna et al., 200282121075738multiple 3
Rizzo et al., 2012652261400012PNS2Etienne-M. et al.,
200283		1244575012multiple 3,5
Kuge et al., 201266222187081brain2Moore et al., 200284119251501GU3
Hagström et al.,
201167		214206281oral 3Haidopoulos et al.,
200285		124408231GU3
Narendra et al.,
201068		204795531GU3Tzilinis et al., 200286160931951GU3
Tholpady et al.,
201069		208818481GU2Amrikachi et al., 200287124784864GI3
Chbani et al., 20095519141382106multiple 1Hasegawa et al., 2001881145499720multiple 3
Hornick et al.,
200970		19033866127multiple 1Kasamatsu et al.,
200189		115203721GU3
Kim et al., 200871194715671GU3Knapik et al., 200190115212351GU4
Rekhi et al., 2008721860762940multiple 3Biegal et al., 200091107383001brain2
Argenta et al.,
200773		176923651GU3Spillane et al., 2000921079185337multiple 3
Bourdeaut
et al., 200774		1715204926multiple2

We located 25 cases of adult SMARCB1/INI1-deficient sarcomas that were described in 18 reports (Table 3)42,50,93–108. Median age at the time of diagnosis was 36 years old. A male predominance was mildly observed (14 cases, 56%), which is consistent with other larger reviews. Presentation in the head and neck (e.g. brain, eye, nose, and scalp) occurred more frequently (6 cases, 24%). No descriptive data analysis was performed to determine if our observations were significant. The majority of reports were originally described as proximal epithelioid sarcoma, but overall these remained a morphologically diverse group of cases that also included rhabdoid and mixed phenotypes.

Table 3. Included rare sarcomas reported in single case reports, case series, or systematic reviews, 2000–2020.

Inclusion criteria were as follows: ability to confirm an individual case patient was greater than 18 years of age; documentation of a loss of SMARCB1/INI1 expression by immunohistochemistry or genetic studies; and confirmed sarcomatous histologic tumor type. “ - “ denotes complete, reduced, or mosaic loss of SMARCB1/INI1 expression (exp.). M, male; F, female.

ArticlePMIDCases,
no.		Age,
Sex		Tumor
site		SMARCB1/
INI1 exp.		Sarcoma morphology
Parker et al., 20204232467817156 Minguinal-epithelioid, rhabdoid
Ahmad et al., 20199331737506127 Mpleura-epithelioid
Bodi et al., 20189429541486122 Fbrain-epithelioid, spindle-shaped
Gurwale et al., 201795-118 Fscalp-epithelioid
Saha D et al., 20169627045049141 Mlung-epithelioid
Rego et al., 20159725737787134 Fvulva-epithelioid, spindle-shaped
Wetzel et al., 20149824997629151 Foral-rhabdoid
Agaimy et al., 20149924503755166 Mstomach-rhabdoid
Madsen et al., 201310024457248145 Mpleura-epithelioid
Frank et al., 201310124308011143 Meye-epithelioid, spindle-shaped
271 Fnasal-epithelioid
Kim et al. 201210221724432141 Fvulva-epithelioid
Mannan et al., 201010319757197147 Minguinal-epithelioid
Takei et al., 201010419911885133 Fbrain-rhabdoid
279 Mcecum-rhabdoid
Raoux et al., 200910519342946131 Fbone-epithelioid, spindle-shaped
Robbens et al., 200610616602014119 Mvertebra-epithelioid
Sigauke et al., 200610716528370126 Mwrist-epithelioid
226 Mlymph -epithelioid
Perry et al., 200510815761491129 Msoft tissue-spindle-shaped
Modena et al., 20055015899790131 Fthigh-epithelioid
247 Fperineum-rhabdoid
330 Mspine-epithelioid
436 Mspine-epithelioid, spindle-shaped
566 Finguinal-epithelioid, rhabdoid

Treatment

Prior to, and still after, the discovery that SMARCB1/INI1-deficient tumors contribute to the large majority of soft tissue sarcomas, systemic cytotoxic agents have been used to treat this diverse group of neoplasms. Doxorubicin and ifosfamide have remained the mainstay of first-line treatment for advanced disease for the last few decades. Currently, the most widely used regimen for soft tissue sarcomas is termed AIM, which includes Adriamycin (doxorubicin) plus ifosfamide and mesna109–111. Therapies such as these, and other cytotoxic agents, exhibit intermediate to improved anti-cancer activity, and prolong survival in metastatic soft tissue sarcoma (Table 4). However, refractory or progressive disease can occur. With the hopes of improving outcomes in patients who develop aggressive sarcomas, multiple new therapies are being introduced. Olaratumab, a monoclonal antibody that targets platelet-derived growth factor alpha and beta (PDGFRA/B), has been approved for first-line therapy in combination with doxorubicin due to improved progression and overall survival in sarcoma patients112. The use of tyrosine kinase-inhibitors (TKIs) has transformed the treatment of advanced GIST. Imatinib, a TKI, as monotherapy is now approved for upfront treatment of metastatic GIST due to improved side effect profiles and outcomes in these patients113–115. Given its mechanism of action, imatinib is also approved for first-line treatment of the fibrosarcomatous variant of dermatofibrosarcoma protuberans116,117.

Table 4. Approved first-line treatments for sarcomas.

ORR, overall response rate; PFS, progression free survival; OS, overall survival; STS, soft tissue sarcoma; GIST, gastrointestinal stromal tumor; D, doxorubicine; I, ifosfamide; P, palifosfamide; E, Evofosfamide; T, trabectedin; O, Olaratumab; G, gemcitabine; Doc, docetaxel; NA, data not available.

TumorDrugsSchedulesORR
(%)		PFS
(months)		OS
(months)		Reference
STSDoxorubicin

Ifosfamide

Evofosfamide

Trabectedin

Olaratumab		D + I267.414.3128
D + P28.3615.9129
D + E28.46.318.4130
D + T175.713.3131
D + O18.26.626.5112
Trabectedinmonotherapy14.82.8NA132
Aldoxorubicinmonotherapy255.615.8133
Amrubicinmonotherapy135.826134
Gemcitabine

Docetaxel		G + Doc58.65.614.7135
Brostacillinmonotherapy3.91.6NA136
GISTImatinibmonotherapy68.11855113–115
AngiosarcomaPaclitaxel monotherapyNA48137

Additional TKIs have recently been introduced, with clinical trial data showing promise for their use in sarcomas. Sunitinib and regorafenib significantly improve overall survival in imatinib-resistant GIST patients118. Pazopanib, a TKI that targets angiogenesis by inhibiting vascular endothelial growth factor receptor, PDGFRA/B, and KIT proto-oncogene, has been shown to improve progression free survival in certain histologic types of sarcoma. This led to its approval for advanced, refractory non-lipomatous sarcoma119,120. Alveolar sarcomas appear to respond well to anti-angiogenetic sorafenib and cediranib121,122. In phase II studies tivozanib, which mechanism of action mimics pazopanib, exhibits promising anti-cancer activity in metastatic or nonresectable soft tissue sarcomas123.

Recently, much work studying the complex mechanisms involved in sarcoma tumorigenesis has revealed the potential for numerous new drug targets. Targeting the mammalian target of rapamycin (mTOR) signaling pathway by serine/threonine kinase inhibition has been widely studied. However, thus far either only equivocal or minor benefits have been shown with the administration of these agents124. In contrast, phase II trial data is reassuring for the future use of palbociclib, a cyclin-dependent kinase 4 and 6 inhibitor approved in breast cancer, for liposarcoma125,126.

Preliminary data from pre-clinical and phase I/II trials is encouraging for small molecule inhibitors, such as with Murine double minute 2 (MDM2)–antagonists, histone deacetylase inhibitors, and histone methylation inhibitors124. A possible breakthrough in small molecular inhibition is represented by the recent discovery of a specific methyltransferase termed Enhancer of zeste homolog 2 (EZH2) is upregulated in SMARCB1/INI1-deficient tumors127. Given the defining characteristic of SMARCB1/INI1 deficiency in the nearly all soft tissue sarcomas, tazemetostat has emerged as an intriguing compound for its direct inhibition of histone-lysine N-methyltransferase EZH2127,138. Another new agent that hopes to improve outcomes for patients with these rare and aggressive SMARCB1/INI1-deficient rhabdoid sarcomas comes from the proteasome inhibitor drug class. Ixazomib selectively targets proteasomes involved in protein anabolism and cellular apoptosis, whose activity is directly enhanced by the transcription factor MYC in SMARCB1/INI1-deficient states. Currently, ixazomib plus gemcitabine and doxorubicin is being studied in the phase II trial setting for renal medullary carcinoma139,140.

Data availability

Underlying data

No data are associated with this article.

References

  • 1.  Abrams E, Neigeborn L, Carlson M: Molecular analysis of SNF2 and SNF5, genes required for expression of glucose-repressible genes in Saccharomyces cerevisiae. Mol Cell Biol. 1986; 6(11): 3643–3651. PubMed Abstract | Publisher Full Text | Free Full Text
  • 2.  Kalpana GV, Marmon S, Wang W, et al.: Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. Science. 1994; 266(5193): 2002–2006. PubMed Abstract | Publisher Full Text
  • 3.  Muchardt C, Sardet C, Bourachot B, et al.: A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm. Nucleic Acids Res. 1995; 23(7): 1127–1132. PubMed Abstract | Publisher Full Text | Free Full Text
  • 4.  Hollmann TJ, Hornick JL: INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011; 35(10): e47–63. PubMed Abstract | Publisher Full Text
  • 5.  Guidi CJ, Sands AT, Zambrowicz BP, et al.: Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice. Mol Cell Biol. 2001; 21(10): 3598–3603. PubMed Abstract | Publisher Full Text | Free Full Text
  • 6.  Roberts CW, Orkin SH: The SWI/SNF complex--chromatin and cancer. Nat Rev Cancer. 2004; 4(2): 133–142. PubMed Abstract | Publisher Full Text
  • 7.  Roberts CW, Galusha SA, McMenamin ME, et al.: Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci U S A. 2000; 97(25): 13796–13800. PubMed Abstract | Publisher Full Text | Free Full Text
  • 8.  Roberts CW, Leroux MM, Fleming MD, et al.: Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002; 2(5): 415–425. PubMed Abstract | Publisher Full Text
  • 9.  Kohashi K, Oda Y: Oncogenic roles of SMARCB1/INI1 and its deficient tumors. Cancer Sci. 2017; 108(4): 547–552. PubMed Abstract | Publisher Full Text | Free Full Text
  • 10.  Ferrari A, Sultan I, Huang TT, et al.: Soft tissue sarcoma across the age spectrum: a population-based study from the Surveillance Epidemiology and End Results database. Pediatr Blood Cancer.. 2011; 57(6): 943–9. PubMed Abstract | Publisher Full Text | Free Full Text
  • 11.  Rare Soft Tissue Tumors: Synovial Sarcoma. National Cancer Institute Web site. 2019. Reference Source
  • 12.  Shonka NA, Armstrong TS, Prabhu SS, et al.: Atypical teratoid/rhabdoid tumors in adults: a case report and treatment-focused review. J Clin Med Res. 2011; 3(2): 85–92. PubMed Abstract | Publisher Full Text | Free Full Text
  • 13.  Doyle LA: Malignant rhabdoid tumor: Pathology of Human Disease. Academic press; 2014.
  • 14.  Horazdovsky R, Manivel JC, Cheng EY: Successful salvage and long-term survival after recurrent malignant rhabdoid tumor. Sarcoma. 2007; 2007: 53549. PubMed Abstract | Publisher Full Text | Free Full Text
  • 15.  Geller JI, Waltz AL: Malignant Rhabdoid Tumor. Medscape. 2018. Reference Source
  • 16.  Chan V, Marro A, Findlay JM, et al.: A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults. Front Oncol. 2018; 8: 567. PubMed Abstract | Publisher Full Text | Free Full Text
  • 17.  Needs T, Fillman EP: Cancer, Epithelioid Sarcoma. StatPearls. Treasure Island (FL): StatPearls. 2020. PubMed Abstract
  • 18.  Jawad MU, Extein J, Min ES, et al.: Prognostic factors for survival in patients with epithelioid sarcoma: 441 cases from the SEER database. Clin Orthop Relat Res. 2009; 467(11): 2939–48. PubMed Abstract | Publisher Full Text | Free Full Text
  • 19.  Shetty A, Matrana MR: Renal medullary carcinoma: a case report and brief review of the literature. Ochsner J. 2014; 14(2): 270–5. PubMed Abstract | Free Full Text
  • 20.  Msaouel P: Renal Medullary Carcinoma. National organization for Rare Disorders. 2019. Reference Source
  • 21.  Du P, Zhu J, Zhang ZD, et al.: Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review. Oncol Lett. 2019; 18(3): 3072–3080. PubMed Abstract | Publisher Full Text | Free Full Text
  • 22.  Minagawa T, Shioya R, Sato C, et al.: Advanced epithelioid malignant peripheral nerve sheath tumor showing complete response to combined surgery and chemotherapy: a case report. Case Rep Oncol Med. 2011; 2011: 705345. PubMed Abstract | Publisher Full Text | Free Full Text
  • 23.  Salivary Gland Cancer Treatment: Myoepithelial carcinoma. National Cancer Institute Web site, 2019. Reference Source
  • 24.  Su YX, Roberts DB, Hanna EY, et al.: Risk Factors and Prognosis for Myoepithelial Carcinoma of the Major Salivary Glands. Ann Surg Oncol. 2015; 22(11): 3701–7. PubMed Abstract | Publisher Full Text
  • 25.  Paoluzzi L, Ghesani M: Extraskeletal myxoid chondrosarcoma with massive pulmonary metastases. Clin Sarcoma Res. 2018; 8: 20. PubMed Abstract | Publisher Full Text | Free Full Text
  • 26.  Beccaria K, Sainte-Rose C, Zerah M, et al.: Paediatric Chordomas. Orphanet J Rare Dis. 2015; 10: 116. PubMed Abstract | Publisher Full Text | Free Full Text
  • 27.  Rare Bone Tumors: Chordoma. National Cancer Institute Web site. 2019; Reference Source
  • 28.  Smoll NR, Gautschi OP, Radovanovic I, et al.: Incidence and relative survival of chordomas: the standardized mortality ratio and the impact of chordomas on a population. Cancer. 2013; 119(11): 2029–37. PubMed Abstract | Publisher Full Text
  • 29.  Agaimy A, Haller F, Frohnauer J, et al.: Pancreatic undifferentiated rhabdoid carcinoma: KRAS alterations and SMARCB1 expression status define two subtypes. Mod Pathol. 2015; 28(2): 248–60. PubMed Abstract | Publisher Full Text
  • 30.  Agaimy A, Koch M, Lell M, et al.: SMARCB1(INI1)-deficient sinonasal basaloid carcinoma: a novel member of the expanding family of SMARCB1-deficient neoplasms. Am J Surg Pathol. 2014; 38(9): 1274–81. PubMed Abstract | Publisher Full Text | Free Full Text
  • 31.  Lee JS, Ko IJ, Jun SY, et al.: Basaloid squamous cell carcinoma in nasal cavity. Clin Exp Otorhinolaryngol. 2009; 2(4): 207–10. PubMed Abstract | Publisher Full Text | Free Full Text
  • 32.  Öfkeli Ö, Bulut A, Yüksek YN, et al.: Malignant rhabdoid tumour in the stomach. Ulus Cerrahi Derg. 2013; 31(1): 55–7. PubMed Abstract | Publisher Full Text | Free Full Text
  • 33.  Romera Barba E, Sánchez Pérez A, Duque Pérez C, et al.: Malignant rhabdoid tumor of the colon: a case report. Cir Esp. 2014; 92(9): 638–40. PubMed Abstract | Publisher Full Text
  • 34.  Yohay K, Bergner A: Schwannomatosis. UpToDate. 2020. Reference Source
  • 35.  Morgan J, Raut CP, Duensing A, et al.: Epidemiology, classification, clinical presentation, prognostic features, and diagnostic work-up of gastrointestinal stromal tumors (GIST). UpToDate. 2019. Reference Source
  • 36.  DeMatteo RP, Lewis JJ, Leung D, et al.: Two hundred gastrointestinal stromal tumors: recurrence patterns and prognostic factors for survival. Ann Surg. 2000; 231(1): 51–58. PubMed Abstract | Publisher Full Text | Free Full Text
  • 37.  Joensuu H, Fletcher C, Dimitrijevic S, et al.: Management of malignant gastrointestinal stromal tumours. Lancet Oncol. 2002; 3(11): 655–664. PubMed Abstract | Publisher Full Text
  • 38.  Howlader N, Noone AM, Krapcho M, et al.: (eds). SEER Cancer Statistics Review, 1975-2016. National Cancer Institute, Bethesda, MD, based on November 2018 SEER data submission, posted to the SEER website, April. 2019. Reference Source
  • 39.  Velasco IA, Zhang R, Li T, et al.: Ossifying Fibromyxoid tumor of soft parts in head and neck: case report and literature review. Diagn Pathol. 2018; 13(1): 21. PubMed Abstract | Publisher Full Text | Free Full Text
  • 40.  Bakiratharajan D, Rekhi B: Ossifying Fibromyxoid Tumor: An Update. Arch Pathol Lab Med. 2016; 140(4): 371–375. PubMed Abstract | Publisher Full Text
  • 41.  Pawel BR: SMARCB1-deficient Tumors of Childhood: A Practical Guide. Pediatr Dev Pathol. 2018; 21(1): 6–28. PubMed Abstract | Publisher Full Text
  • 42.  Parker NA, Al-Obaidi A, Lalich D, et al.: SMARCB1/INI1-Deficient Extrarenal Rhabdoid Tumor: A Case Report of a Rare and Aggressive Soft Tissue Sarcoma. Cureus. 2020; 12(5): e8273. PubMed Abstract | Publisher Full Text | Free Full Text
  • 43.  Podduturi V, Campa-Thompson MM, Zhou XJ, et al.: Malignant rhabdoid tumor of the kidney arising in an adult patient. Proc (Bayl Univ Med Cent). 2014; 27(3): 239–41. PubMed Abstract | Publisher Full Text | Free Full Text
  • 44.  Peng HQ, Stanek AE, Teichberg S, et al.: Malignant rhabdoid tumor of the kidney in an adult: a case report and review of the literature. Arch Pathol Lab Med. 2003; 127(9): e371–e373. PubMed Abstract | Publisher Full Text
  • 45.  Lowe W, Weiss RM, Todd MB, et al.: Malignant rhabdoid tumor of the kidney in an adult. J Urol. 1990; 143(1): 110–112. PubMed Abstract | Publisher Full Text
  • 46.  Clausen HV, Horn T, Anagnostaki L, et al.: Malignant rhabdoid tumour of the kidney in an adult: a case report with immunohistochemical and ultrastructural investigation. Scand J Urol Nephrol Suppl. 1994; 157: 123–128. PubMed Abstract
  • 47.  Ebbinghaus SW, Herrera G, Marshall ME: Rhabdoid tumor of the kidney in an adult: review of the literature and report of a case responding to interleukin-2. Cancer Biother. 1995; 10(3): 237–241. PubMed Abstract | Publisher Full Text
  • 48.  Caballero JM, Collera P, Marti L, et al.: [Malignant Rhabdoid Tumor of the Kidney in the Adult]. Actas Urol Esp. 1996; 20(4): 377–379. PubMed Abstract
  • 49.  Zhao G, Na R, Yang Y, et al.: Pure malignant rhabdoid tumor of the left kidney in an adult: A case report and review of the literature. Oncol Lett. 2013; 5(5): 1481–1484. PubMed Abstract | Publisher Full Text | Free Full Text
  • 50.  Modena P, Lualdi E, Facchinetti F, et al.: SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res. 2005; 65(10): 4012–9. PubMed Abstract | Publisher Full Text
  • 51.  Margol AS, Judkins AR: Pathology and diagnosis of SMARCB1-deficient tumors. Cancer Genet. 2014; 207(9): 358–64. PubMed Abstract | Publisher Full Text
  • 52.  Ng WK, Toe BP, Lau HY: Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review. J Clin Imaging Sci. 2019; 9: 7. PubMed Abstract | Publisher Full Text | Free Full Text
  • 53.  Gupta RK, Batra VV, Das MC, et al.: Malignant extra-renal rhabdoid tumor with unusual presentation: A report of two cases. J Cancer Res Ther. 2015; 11(4): 963–6. PubMed Abstract | Publisher Full Text
  • 54.  Hoot AC, Russo P, Judkins AR, et al.: Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol.. 2004; 28(11): 1485–91. PubMed Abstract | Publisher Full Text
  • 55.  Chbani L, Guillou L, Terrier P, et al.: Epithelioid sarcoma: a clinicopathologic and immunohistochemical analysis of 106 cases from the French sarcoma group. Am J Clin Pathol. 2009; 131(2): 222–227. PubMed Abstract | Publisher Full Text
  • 56.  Kohashi K, Tanaka Y, Kishimoto H, et al.: Reclassification of rhabdoid tumor and pediatric undifferentiated/unclassified sarcoma with complete loss of SMARCB1/INI1 protein expression: three subtypes of rhabdoid tumor according to their histological features. Mod Pathol. 2016; 29(10): 1232–1242. PubMed Abstract | Publisher Full Text
  • 57.  Zhang XW, Deng YJ, Zhou L, et al.: Epithelioid sarcoma of the scalp: a case report and literature review. Int J Clin Exp Pathol. 2019; 12(10): 3908–3914. PubMed Abstract | Free Full Text
  • 58.  Kubota Y, Arakawa Y, Sekiguchi M, et al.: A case of malignant rhabdoid tumor mimicking yolk sac tumor. Pediatr Blood Cancer. 2019; 66(8): e27784. PubMed Abstract | Publisher Full Text
  • 59.  Kolin DL, Dong F, Baltay M, et al.: SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. Mod Pathol. 2018; 31(9): 1442–1456. PubMed Abstract | Publisher Full Text
  • 60.  Kim YS, Kwak HS, Chung GH, et al.: Epithelioid sarcoma arising from the temporal space: A case report. Medicine (Baltimore). 2018; 97(38): e12529. PubMed Abstract | Publisher Full Text | Free Full Text
  • 61.  Strehl JD, Wachter DL, Fiedler J, et al.: Pattern of SMARCB1 (INI1) and SMARCA4 (BRG1) in poorly differentiated endometrioid adenocarcinoma of the uterus: analysis of a series with emphasis on a novel SMARCA4-deficient dedifferentiated rhabdoid variant. Ann Diagn Pathol. 2015; 19(4): 198–202. PubMed Abstract | Publisher Full Text
  • 62.  dos Santos LM, Nogueira L, Matsuo CY, et al.: Proximal-type epithelioid sarcoma -- case report. An Bras Dermatol. 2013; 88(3): 444–7. PubMed Abstract | Publisher Full Text | Free Full Text
  • 63.  Patrizi L, Corrado G, Saltari M, et al.: Vulvar "proximal-type" epithelioid sarcoma: report of a case and review of the literature. Diagn Pathol. 2013; 8: 122. PubMed Abstract | Publisher Full Text | Free Full Text
  • 64.  Tocco I, Bassetto F, Vindigni V: Primary epithelioid sarcoma of the scalp complicated by humoral hypercalcemia of malignancy. Eplasty. 2012; 12: ic18. PubMed Abstract | Free Full Text
  • 65.  Rizzo D, Fréneaux P, Brisse H, et al.: SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors? Am J Surg Pathol. 2012; 36(7): 964–72. PubMed Abstract | Publisher Full Text
  • 66.  Kuge A, Sato S, Sakurada K, et al.: Atypical teratoid rhabdoid tumor located in the pineal region following prophylactic irradiation for acute lymphoblastic leukemia. Brain Tumor Pathol. 2012; 29(3): 177–81. PubMed Abstract | Publisher Full Text
  • 67.  Hagström J, Mesimäki K, Apajalahti S, et al.: A rare case of oral epithelioid sarcoma of the gingiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011; 111(4): e25–8. PubMed Abstract | Publisher Full Text
  • 68.  Narendra H, Ray S, Rao L, et al.: Malignant extrarenal rhabdoid tumor of the vulva in an adult. J Cancer Res Ther. 2010; 6(1): 82–5. PubMed Abstract | Publisher Full Text
  • 69.  Tholpady A, Lonergan CL, Wick MR: Proximal-type epithelioid sarcoma of the vulva: relationship to malignant extrarenal rhabdoid tumor. Int J Gynecol Pathol. 2010; 29(6): 600–4. PubMed Abstract | Publisher Full Text
  • 70.  Hornick JL, Dal Cin P, Fletcher CDM: Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009; 33(4): 542–50. PubMed Abstract | Publisher Full Text
  • 71.  Kim JH, Choi YS, Lee TS: A case of epithelioid sarcoma arising in the vulva. J Gynecol Oncol. 2008; 19(3): 202–204. PubMed Abstract | Publisher Full Text | Free Full Text
  • 72.  Rekhi B, Gorad BD, Chinoy RF: Clinicopathological features with outcomes of a series of conventional and proximal-type epithelioid sarcomas, diagnosed over a period of 10 years at a tertiary cancer hospital in India. Virchows Arch. 2008; 453(2): 141–153. PubMed Abstract | Publisher Full Text
  • 73.  Argenta PA, Thomas S, Chura JC: Proximal-type epithelioid sarcoma vs. malignant rhabdoid tumor of the vulva: a case report, review of the literature, and an argument for consolidation. Gynecol Oncol. 2007; 107(1): 130–135. PubMed Abstract | Publisher Full Text
  • 74.  Bourdeaut F, Fréneaux P, Thuille B, et al.: hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol. 2007; 211(3): 323–330. PubMed Abstract | Publisher Full Text
  • 75.  Weisskopf M, Münker R, Hermanns-Sachweh B, et al.: Epithelioid sarcoma in the thoracic spine. Eur Spine J. 2006; 15 Suppl 5(Suppl 5): 604–609. PubMed Abstract | Publisher Full Text | Free Full Text
  • 76.  Onol FF, Tanidir Y, Kotiloğlu E, et al.: Proximal type epithelioid sarcoma of the scrotum: a source of diagnostic confusion that needs immediate attention. Eur Urol. 2006; 49(2): 406–407. PubMed Abstract | Publisher Full Text
  • 77.  Zevallos-Giampietri EA, Barrionuevo C: Proximal-type epithelioid sarcoma: report of two cases in the perineum: differential diagnosis and review of soft tissue tumors with epithelioid and/or rhabdoid features. Appl Immunohistochem Mol Morphol. 2005; 13(3): 221–230. PubMed Abstract | Publisher Full Text
  • 78.  Masunaga A, Ikeda K, Suzuki T, et al.: Proximal-type epithelioid sarcoma in a 36-year-old man: closer immunoelectron-microscopic resemblance of the tumor cells to epithelial cells than to mesenchymal cells. Pathol Int. 2004; 54(8): 616–622. PubMed Abstract | Publisher Full Text
  • 79.  Chang JH, Dikranian AH, Johnston WH, et al.: Malignant extrarenal rhabdoid tumor of the bladder: 9-year survival after chemotherapy and partial cystectomy. J Urol. 2004; 171(2 Pt 1): 820–821. PubMed Abstract | Publisher Full Text
  • 80.  Altundag K, Dikbas O, Oyan B, et al.: Epithelioid sarcoma of vulva: a case report and review of the literature. Med Oncol. 2004; 21(4): 367–372. PubMed Abstract | Publisher Full Text
  • 81.  Lee MW, Jee KJ, Ro JY, et al.: Proximal-type epithelioid sarcoma: case report and result of comparative genomic hybridization. J Cutan Pathol. 2004; 31(1): 67–71. PubMed Abstract | Publisher Full Text
  • 82.  Hanna SL, Kaste S, Jenkins JJ, et al.: Epithelioid sarcoma: clinical, MR imaging and pathologic findings. Skeletal Radiol. 2002; 31(7): 400–412. PubMed Abstract | Publisher Full Text
  • 83.  Etienne-Mastroianni B, Falchero L, Chalabreysse L, et al.: Primary sarcomas of the lung: a clinicopathologic study of 12 cases. Lung Cancer. 2002; 38(3): 283–289. PubMed Abstract | Publisher Full Text
  • 84.  Moore RG, Steinhoff MM, Granai CO, et al.: Vulvar epithelioid sarcoma in pregnancy. Gynecol Oncol. 2002; 85(1): 218–222. PubMed Abstract | Publisher Full Text
  • 85.  Haidopoulos D, Elsheikh A, Vlahos G, et al.: Malignant rhabdoid tumor of the clitoris in an elderly patient: report of a case. Eur J Gynaecol Oncol. 2002; 23(5): 447–449. PubMed Abstract
  • 86.  Tzilinis A, Clarke LE, Affuso C, et al.: Successful treatment of malignant rhabdoid tumor of the vulva in an older patient: a case report and review of the literature. Curr Surg. 2002; 59(6): 570–571. PubMed Abstract | Publisher Full Text
  • 87.  Amrikachi M, Ro JY, Ordonez NG, et al.: Adenocarcinomas of the gastrointestinal tract with prominent rhabdoid features. Ann Diagn Pathol. 2002; 6(6): 357–363. PubMed Abstract | Publisher Full Text
  • 88.  Hasegawa T, Matsuno Y, Shimoda T, et al.: Proximal-type epithelioid sarcoma: a clinicopathologic study of 20 cases. Mod Pathol. 2001; 14(7): 655–663. PubMed Abstract | Publisher Full Text
  • 89.  Kasamatsu T, Hasegawa T, Tsuda H, et al.: Primary epithelioid sarcoma of the vulva. Int J Gynecol Cancer. 2001; 11(4): 316–320. PubMed Abstract | Publisher Full Text
  • 90.  Knapik J, Yachnis AT, Ripley D, et al.: Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol. 2001; 32(8): 884–886. PubMed Abstract | Publisher Full Text
  • 91.  Biegel JA, Fogelgren B, Wainwright LM, et al.: Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer. 2000; 28(1): 31–37. PubMed Abstract | Publisher Full Text
  • 92.  Spillane AJ, Thomas JM, Fisher C: Epithelioid sarcoma: the clinicopathological complexities of this rare soft tissue sarcoma. Ann Surg Oncol. 2000; 7(3): 218–225. PubMed Abstract | Publisher Full Text
  • 93.  Ahmad Z, Stanazai Q, Wright S, et al.: Primary pleural epithelioid sarcoma of the proximal type: a diagnostic and therapeutic challenge. Transl Lung Cancer Res. 2019; 8(5): 700–705. PubMed Abstract | Publisher Full Text | Free Full Text
  • 94.  Bodi I, Giamouriadis A, Sibtain N, et al.: Primary intracerebral INI1-deficient rhabdoid tumor with CD34 immunopositivity in a young adult. Surg Neurol Int. 2018; 9: 45. PubMed Abstract | Publisher Full Text | Free Full Text
  • 95.  Gurwale S, Gore C, Kaur S, et al.: Primary epithelioid sarcoma of scalp. Asian J Oncol. 2017; 3: 71–73. Publisher Full Text
  • 96.  Saha D, Basu A, Maiti A, et al.: Primary proximal epithelioid sarcoma of the lung successfully treated with pneumonectomy and adjuvant chemotherapy. BMJ Case Rep. 2016; 2016: bcr2015213966. PubMed Abstract | Publisher Full Text | Free Full Text
  • 97.  Rego JL, Cintra GF, Netto AKJ, et al.: Extremely rare case of vulvar myxoid epithelioid sarcoma. Case Rep Obstet Gynecol. 2015; 2015: 971217. PubMed Abstract | Publisher Full Text | Free Full Text
  • 98.  Wetzel SL, Kerpel S, Reich RF, et al.: Malignant rhabdoid tumor of the floor of mouth: first reported case in the oral cavity of an adult. Head Neck Pathol. 2015; 9(2): 269–272. PubMed Abstract | Publisher Full Text | Free Full Text
  • 99.  Agaimy A, Rau TT, Hartmann A, et al.: SMARCB1 (INI1)-negative rhabdoid carcinomas of the gastrointestinal tract: clinicopathologic and molecular study of a highly aggressive variant with literature review. Am J Surg Pathol. 2014; 38(7): 910–920. PubMed Abstract | Publisher Full Text
  • 100.  Madsen GA, Rasmussen TR, Bærentzen S: A case of pleural epithelioid sarcoma of proximal type presenting as malignant pleural mesothelioma. J Thorac Oncol. 2013; 8(10): e89–e90. PubMed Abstract | Publisher Full Text
  • 101.  Frank R, Sadri N, Bhatti T, et al.: Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1. J Clin Exp Oncol. 2013; 2(2): 1000106. PubMed Abstract | Publisher Full Text | Free Full Text
  • 102.  Kim HJ, Kim MH, Kwon J, et al.: Proximal-type epithelioid sarcoma of the vulva with INI1 diagnostic utility. Ann Diagn Pathol. 2012; 16(5): 411–415. PubMed Abstract | Publisher Full Text
  • 103.  Mannan AA, Rifaat AA, Kahvic M, et al.: Proximal-type epithelioid sarcoma in the groin presenting as a diagnostic dilemma. Pathol Oncol Res. 2010; 16(2): 181–188. PubMed Abstract | Publisher Full Text
  • 104.  Takei H, Adesina AM, Mehta V, et al.: Atypical teratoid/rhabdoid tumor of the pineal region in an adult. J Neurosurg. 2010; 113(2): 374–379. PubMed Abstract | Publisher Full Text
  • 105.  Raoux D, Péoc'h M, Pedeutour F, et al.: Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion. Am J Surg Pathol. 2009; 33(6): 954–958. PubMed Abstract | Publisher Full Text
  • 106.  Robbens C, Vanwyck R, Wilms G, et al.: An extrarenal rhabdoid tumor of the cervical spine with bony involvement. Skeletal Radiol. 2007; 36(4): 341–345. PubMed Abstract | Publisher Full Text
  • 107.  Sigauke E, Rakheja D, Maddox DL, et al.: Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol. 2006; 19(5): 717–725. PubMed Abstract | Publisher Full Text
  • 108.  Perry A, Fuller CE, Judkins AR, et al.: INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol. 2005; 18(7): 951–958. PubMed Abstract | Publisher Full Text
  • 109.  Edmonson JH, Ryan LM, Blum RH, et al.: Randomized comparison of doxorubicin alone versus ifosfamide plus doxorubicin or mitomycin, doxorubicin, and cisplatin against advanced soft tissue sarcomas. J Clin Oncol. 1993; 11(7): 1269–75. PubMed Abstract | Publisher Full Text
  • 110.  Cesne A, Judson I, Crowther D, et al.: Randomized phase III study comparing conventional-dose doxorubicin plus ifosfamide versus high-dose doxorubicin plus ifosfamide plus recombinant human granulocyte-macrophage colony-stimulating factor in advanced soft tissue sarcomas: A trial of the European Organization for Research and Treatment of Cancer/Soft Tissue and Bone Sarcoma Group. J Clin Oncol. 2000; 18(14): 2676–84. PubMed Abstract | Publisher Full Text
  • 111.  Worden FP, Taylor JM, Biermann JS, et al.: Randomized phase II evaluation of 6 g/m2 of ifosfamide plus doxorubicin and granulocyte colony-stimulating factor (G-CSF) compared with 12 g/m2 of ifosfamide plus doxorubicin and G-CSF in the treatment of poor-prognosis soft tissue sarcoma. J Clin Oncol. 2005; 23(1): 105–12. PubMed Abstract | Publisher Full Text
  • 112.  Tap WD, Jones RL, Van Tine BA, et al.: Olaratumab and doxorubicin versus doxorubicin alone for treatment of soft-tissue sarcoma: an open-label phase 1b and randomised phase 2 trial. [published correction appears in Lancet. 2016 Jul 30; 388(10043):464]. Lancet. 2016; 388(10043): 488–497. PubMed Abstract | Publisher Full Text | Free Full Text
  • 113.  van Oosterom AT, Judson I, Verweij J, et al.: Safety and efficacy of imatinib (STI571) in metastatic gastrointestinal stromal tumours: a phase I study. Lancet. 2001; 358(9291): 1421–1423. PubMed Abstract | Publisher Full Text
  • 114.  Demetri GD, von Mehren M, Blanke CD, et al.: Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med. 2002; 347(7): 472–480. PubMed Abstract | Publisher Full Text
  • 115.  Blanke CD, Rankin C, Demetri GD, et al.: Phase III randomized, intergroup trial assessing imatinib mesylate at two dose levels in patients with unresectable or metastatic gastrointestinal stromal tumors expressing the kit receptor tyrosine kinase: S0033. J Clin Oncol. 2008; 26(4): 626–632. PubMed Abstract | Publisher Full Text
  • 116.  Rutkowski P, Van Glabbeke M, Rankin CJ, et al.: Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol. 2010; 28(10): 1772–1779. PubMed Abstract | Publisher Full Text | Free Full Text
  • 117.  Stacchiotti S, Pantaleo MA, Negri T, et al.: Efficacy and Biological Activity of Imatinib in Metastatic Dermatofibrosarcoma Protuberans (DFSP). Clin Cancer Res. 2016; 22(4): 837–846. PubMed Abstract | Publisher Full Text
  • 118.  Call JW, Wang Y, Montoya D, et al.: Survival in advanced GIST has improved over time and correlates with increased access to post-imatinib tyrosine kinase inhibitors: results from Life Raft Group Registry. [published correction appears in Clin Sarcoma Res. 2019 May 7;9:7]. Clin Sarcoma Res. 2019; 9: 4. PubMed Abstract | Publisher Full Text | Free Full Text
  • 119.  van der Graaf WTA, Blay JY, Chawla SP, et al.: Pazopanib for metastatic soft-tissue sarcoma (PALETTE): a randomised, double-blind, placebo-controlled phase 3 trial. Lancet. 2012; 379(9829): 1879–86. PubMed Abstract | Publisher Full Text
  • 120.  Sleijfer S, Ray-Coquard I, Papai Z, et al.: Pazopanib, a multikinase angiogenesis inhibitor, in patients with relapsed or refractory advanced soft tissue sarcoma: a phase II study from the European organisation for research and treatment of cancer-soft tissue and bone sarcoma group (EORTC study 62043). J Clin Oncol. 2009; 27(19): 3126–32. PubMed Abstract | Publisher Full Text
  • 121.  Ray-Coquard I, Italiano A, Bompas E, et al.: Sorafenib for Patients With Advanced Angiosarcoma: A Phase II Trial From the French Sarcoma Group (GSF/GETO). Oncologist. 2012; 17(2): 260–266. PubMed Abstract | Publisher Full Text | Free Full Text
  • 122.  Kummar S, Allen D, Monks A, et al.: Cediranib for Metastatic Alveolar Soft Part Sarcoma. J Clin Oncol. 2013; 31(18): 2296–2302. PubMed Abstract | Publisher Full Text | Free Full Text
  • 123.  Agulnik M, Costa RLB, Milhem M, et al.: A Phase II Study of Tivozanib in Patients With Metastatic and Nonresectable Soft-Tissue Sarcomas. Ann Oncol. 2017; 28(1): 121–127. PubMed Abstract | Publisher Full Text | Free Full Text
  • 124.  Frezza AM, Stacchiotti S, Gronchi A: Systemic Treatment in Advanced Soft Tissue Sarcoma: What Is Standard, What Is New. BMC Med. 2017; 15(1): 109. PubMed Abstract | Publisher Full Text | Free Full Text
  • 125.  Binh MB, Sastre-Garau X, Guillou L, et al.: MDM2 and CDK4 Immunostainings Are Useful Adjuncts in Diagnosing Well-Differentiated and Dedifferentiated Liposarcoma Subtypes: A Comparative Analysis of 559 Soft Tissue Neoplasms With Genetic Data. Am J Surg Pathol. 2005; 29(10): 1340–1347. PubMed Abstract | Publisher Full Text
  • 126.  Dickson MA, Tap WD, Keohan ML, et al.: Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. J Clin Oncol. 2013; 31(16): 2024–8. PubMed Abstract | Publisher Full Text | Free Full Text
  • 127.  Wilson BG, Wang X, Shen X, et al.: Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. [published correction appears in Cancer Cell. 2011 Jan 18; 19(1): 153] Cancer Cell. 2010; 18(4): 316–28. PubMed Abstract | Publisher Full Text | Free Full Text
  • 128.  Judson I, Verweij J, Gelderblom H, et al.: Doxorubicin alone versus intensified doxorubicin plus ifosfamide for first-line treatment of advanced or metastatic soft-tissue sarcoma: a randomised controlled phase 3 trial. Lancet Oncol. 2014; 15(4): 415–423. PubMed Abstract | Publisher Full Text
  • 129.  Ryan CW, Merimsky O, Agulnik M, et al.: PICASSO III: A Phase III, Placebo-Controlled Study of Doxorubicin With or Without Palifosfamide in Patients With Metastatic Soft Tissue Sarcoma. J Clin Oncol. 2016; 34(32): 3898–3905. PubMed Abstract | Publisher Full Text
  • 130.  Tap WD, Papai Z, Van Tine BA, et al.: Doxorubicin plus evofosfamide versus doxorubicin alone in locally advanced, unresectable or metastatic soft-tissue sarcoma (TH CR-406/SARC021): an international, multicentre, open-label, randomised phase 3 trial. Lancet Oncol. 2017; 18(8): 1089–1103, [published correction appears in Lancet Oncol. 2018 Feb; 19(2):e78]. PubMed Abstract | Publisher Full Text
  • 131.  Martin-Broto J, Pousa AL, de Las Peñas R, et al.: Randomized Phase II Study of Trabectedin and Doxorubicin Compared With Doxorubicin Alone as First-Line Treatment in Patients With Advanced Soft Tissue Sarcomas: A Spanish Group for Research on Sarcoma Study. J Clin Oncol. 2016; 34(19): 2294–2302. PubMed Abstract | Publisher Full Text
  • 132.  Bui-Nguyen B, Butrynski JE, Penel N, et al.: A phase IIb multicentre study comparing the efficacy of trabectedin to doxorubicin in patients with advanced or metastatic untreated soft tissue sarcoma: the TRUSTS trial. Eur J Cancer. 2015; 51(10): 1312–1320. PubMed Abstract | Publisher Full Text
  • 133.  Chawla SP, Papai Z, Mukhametshina G, et al.: First-Line Aldoxorubicin vs Doxorubicin in Metastatic or Locally Advanced Unresectable Soft-Tissue Sarcoma: A Phase 2b Randomized Clinical Trial. JAMA Oncol. 2015; 1(9): 1272–1280. PubMed Abstract | Publisher Full Text
  • 134.  Gupta S, Gouw L, Wright J, et al.: Phase II study of amrubicin (SM-5887), a synthetic 9-aminoanthracycline, as first line treatment in patients with metastatic or unresectable soft tissue sarcoma: durable response in myxoid liposarcoma with TLS-CHOP translocation. Invest New Drugs. 2016; 34(2): 243–252. PubMed Abstract | Publisher Full Text
  • 135.  Seddon B, Strauss SJ, Whelan J, et al.: Gemcitabine and docetaxel versus doxorubicin as first-line treatment in previously untreated advanced unresectable or metastatic soft-tissue sarcomas (GeDDiS): a randomised controlled phase 3 trial. Lancet Oncol. 2017; 18(10): 1397–1410. PubMed Abstract | Publisher Full Text | Free Full Text
  • 136.  Gelderblom H, Blay JY, Seddon BM, et al.: Brostallicin versus doxorubicin as first-line chemotherapy in patients with advanced or metastatic soft tissue sarcoma: an European Organisation for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group randomised phase II and pharmacogenetic study. Eur J Cancer. 2014; 50(2): 388–96. PubMed Abstract | Publisher Full Text
  • 137.  Penel N, Bui BN, Bay JO, et al.: Phase II trial of weekly paclitaxel for unresectable angiosarcoma: the ANGIOTAX Study. J Clin Oncol. 2008; 26(32): 5269–74. PubMed Abstract | Publisher Full Text
  • 138.  Agulnik M, Tannir NM, Pressey JG, et al.: A phase II, multicenter study of the EZH2 inhibitor tazemetostat in adult subjects with INI1-negative tumors or relapsed/refractory synovial sarcoma. J Clin Oncol. 2016; 34(15_suppl): TPS11071–TPS11071. (suppl; abstr TPS11071). Publisher Full Text
  • 139.  Msaouel P, Carugo A, Genovese G: Targeting proteostasis and autophagy in SMARCB1-deficient malignancies: where next? Oncotarget. 2019; 10(40): 3979–3981. PubMed Abstract | Publisher Full Text | Free Full Text
  • 140.  Msaouel P, Slack-Tidwell R, Genovese G, et al.: Phase II trial of ixazomib combined with gemcitabine and doxorubicin in patients with SMARCB1-deficient kidney malignancies. J Clin Oncol. 2019; 37(7_suppl): (suppl; abstr TPS678–TPS678). Publisher Full Text

Comments on this article Comments (0)

Version 2
VERSION 2 PUBLISHED 30 Jun 2020
Comment
Author details Author details
Competing interests
Grant information
Article Versions (2)
Copyright
Download
 
Export To
metrics
Views Downloads
F1000Research - -
PubMed Central
Data from PMC are received and updated monthly.
 - -
Citations
SEE MORE DETAILS
CITE
how to cite this article
Parker NA, Al-Obaidi A and Deutsch JM. SMARCB1/INI1-deficient tumors of adulthood [version 2; peer review: 2 approved]. F1000Research 2020, 9:662 (https://doi.org/10.12688/f1000research.24808.2)
NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article.
track
receive updates on this article
Track an article to receive email alerts on any updates to this article.

Open Peer Review

Current Reviewer Status: ?
Key to Reviewer Statuses VIEW
ApprovedThe paper is scientifically sound in its current form and only minor, if any, improvements are suggested
Approved with reservations A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit.
Not approvedFundamental flaws in the paper seriously undermine the findings and conclusions
Version 2
VERSION 2
PUBLISHED 09 Dec 2020
Revised
Views
12
Cite
Reviewer Report 15 Mar 2021
Abdulqadir Nashwan, Research Scientist, Hamad Medical Corporation (HMC), Doha, Qatar 
Approved
VIEWS 12
https://doi.org/10.5256/f1000research.30897.r80638
This is a review article highlighting the recently published case reports on the role of SMARCB1/INI1-deficient tumors of adulthood and available treatment strategies.

This review summarized important findings and is theoretically based on the current literature.
... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Nashwan A. Reviewer Report For: SMARCB1/INI1-deficient tumors of adulthood [version 2; peer review: 2 approved]. F1000Research 2020, 9:662 (https://doi.org/10.5256/f1000research.30897.r80638)
The direct URL for this report is:
https://f1000research.com/articles/9-662/v2#referee-response-80638
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
Report a concern
Version 1
VERSION 1
PUBLISHED 30 Jun 2020
Views
22
Cite
Reviewer Report 05 Nov 2020
Conor Patrick Malone, Health Service Executive (Ireland), Dublin, Ireland 
Approved
VIEWS 22
https://doi.org/10.5256/f1000research.27370.r74306
This article clearly and concisely reviews the role of SMARCB1/INI1 in rhabdoid tumours, as well as summarising the literature and discussing management options. The structure is good, the language is accessible, and the references are appropriate and comprehensive.

I ... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Malone CP. Reviewer Report For: SMARCB1/INI1-deficient tumors of adulthood [version 2; peer review: 2 approved]. F1000Research 2020, 9:662 (https://doi.org/10.5256/f1000research.27370.r74306)
The direct URL for this report is:
https://f1000research.com/articles/9-662/v1#referee-response-74306
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
Report a concern

Comments on this article Comments (0)

Version 2
VERSION 2 PUBLISHED 30 Jun 2020
Comment

Open Peer Review

Reviewer Status

Alongside their report, reviewers assign a status to the article:

Approved
The paper is scientifically sound in its current form and only minor, if any, improvements are suggested
Approved with reservations
A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit.
Not approved
Fundamental flaws in the paper seriously undermine the findings and conclusions

Reviewer Reports

Invited Reviewers
1 2
Version 2
(revision)
 09 Dec 20 		read
Version 1
30 Jun 20 		read
  1. Conor Patrick Malone, Health Service Executive (Ireland), Dublin, Ireland
  2. Abdulqadir Nashwan, Hamad Medical Corporation (HMC), Doha, Qatar

Comments on this article

All Comments(0)

Add a comment
Sign up for content alerts

Browse by related subjects

    keyboard_arrow_left Back to all reports
    keyboard_arrow_left Back to all reports
    Alongside their report, reviewers assign a status to the article:
    Approved - the paper is scientifically sound in its current form and only minor, if any, improvements are suggested
    Approved with reservations - A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit.
    Not approved - fundamental flaws in the paper seriously undermine the findings and conclusions
    Sign In
    If you've forgotten your password, please enter your email address below and we'll send you instructions on how to reset your password.

    The email address should be the one you originally registered with F1000.
    Email address not valid, please try again

    You registered with F1000 via Google, so we cannot reset your password.

    To sign in, please click here.

    If you still need help with your Google account password, please click here.

    You registered with F1000 via Facebook, so we cannot reset your password.

    To sign in, please click here.

    If you still need help with your Facebook account password, please click here.

    Code not correct, please try again
    Email us for further assistance.
    Server error, please try again.