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Case Report
Revised

Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy

[version 2; peer review: 3 approved]
PUBLISHED 15 Nov 2019
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Abstract

We present a rare case of a four-year-old boy with a botyroid embryonal rhabdomyosarcoma of the right middle ear. Rhabdomyosarcoma is a soft tissue malignancy which is thought to originate from embryonic mesenchymal cells of striated skeletal muscle.  It is a disease primarily of children and is exceptionally rare in parameningeal regions.  The diagnosis is often delayed and easily misdiagnosed as aural polyp. Therefore, advanced disease is common at the time of diagnosis.  A four-year-old boy presented with a four-month history of recurrent left ear blood and pus discharge, otalgia and fevers. He attended his GP three times and paediatric A&E 13 times where he received antibiotics for presumed otitis media and externa. He was eventually referred to the otolaryngology department and underwent an examination under anaesthesia of ear and excisional biopsy of a suspicious aural polyp.  Staging chest CT and PET scan showed no loco-regional spread or distal metastasis. Magnetic resonance imaging demonstrated absence of invasion into adjacent organs.  Histology confirmed embryonal rhabdomyosarcoma, botryoid subtype.  Subsequent to the initial excision of the polyp, he was started on an ifosfamine, vincristine and actinomycin (IVA) chemotherapy regime in three weekly cycles for nine cycles with concomitant radiotherapy. Two weeks subsequent to his first chemotherapy dose he presented with a House-Brackmann II-III facial nerve palsy but no other middle ear complications. He was started on intravenous antibiotics and dexamethasone. The facial nerve palsy incompletely resolved with treatment.

Keywords

Rhabdomyosarcoma, middle ear

Revised Amendments from Version 1

Minor clarifications were made in response to reviewer comments.

See the authors' detailed response to the review by Craig Hickson

Introduction

Rhabdomyosarcoma is a rare soft tissue malignancy with unknown aetiology. It is thought to originate from embryonic mesenchymal cells of striated skeletal muscle. It is a disease primarily of children, with two-thirds of patients presenting under the age of six years1. The commonest areas of the body to be affected are the head and neck, the bladder and reproductive organs. They are rare elsewhere and are exceptionally rare in parameningeal regions, including the ear and mastoid.

Symptoms depend on the location of the tumour. Aural involvement often has non-specific symptoms such as fever and otalgia. If the tumour is significant in size and protrudes through the tympanic membrane, then otorrhoea and hearing loss may result. Rarely, facial nerve palsy may occur. The diagnosis is often delayed and easily misdiagnosed as aural polyp. Therefore, advanced disease is common at the time of diagnosis.

We present a rare case of a four-year-old boy with a botyroid embryonal rhabdomyosarcoma of the right middle ear and review the literature.

Case report

A four-year-old boy presented with a four-month history of recurrent left ear blood and pus discharge, otalgia and fevers. He attended his general practitioner (GP) three times and Paediatric Accident & Emergency 13 times where he received oral, topical and intravenous antibiotics for presumed otitis media and externa. He had no relevant family history. He was eventually referred to the otolaryngology department after 19 months and was listed for an examination under anaesthesia of and excisional biopsy of a suspicious aural polyp 2 weeks after presentation to the otolaryngology department team. Intra-operatively, a large lesion extending from the middle ear through the tympanic membrane and into the external auditory canal was noted which was incompletely resected as only tissue lateral to the tympanic membrane was resected. The lesion was found to be highly vascular.

Histopathological findings were in keeping with embryonal rhabdomyosarcoma, botryoid subtype. This rare diagnosis required a second opinion from the Histology Department at the Royal Marsden Hospital. Immunochemical staining revealed sheets of rounded tumour cells with scant cytoplasm and inconspicuous nucleoli, which were distinguished by the formation of polypoid and grapelike tumour masses. Malignant cells in an abundant myxoid stroma were observed. Staining was positive for desmin and muscle-specific actin.

Magnetic resonance imaging (MRI) of the head was performed within two weeks of resection of the tumour, which demonstrated absence of invasion into adjacent organs. Staging chest MRI showed no evidence of metastases and PET scan showed no loco-regional spread or distal metastasis. Bone marrow trephine and CSF were negative. The patient’s haemoglobin levels were borderline anaemic but all routine blood tests were otherwise within normal limits.

At 5 weeks after initial presentation he was started on nine cycles of IVA chemotherapy: ifosfamine (3 g/m2 on days 1 and 2); vincristine (1.5 mg/m2 weekly during the first 7 weeks, then only on day 1 of each cycle); and Dactinomycin (at 1.5 mg/m2 on day 1) in three weekly cycles with concomitant radiotherapy.

Two weeks subsequent to his first chemotherapy dose he was admitted with neutropenic sepsis and also presented with a House-Brackmann II-III facial nerve palsy but no other middle ear complications. He was started on paediatric doses of intravenous Piperacillin / tazobactam and gentamicin for 5 days as an inpatient prior to being discharged on a paediatric oral dose of ciprofloxacin for the remainder of his chemotherapy course. The facial nerve palsy incompletely resolved to a House-Brackmann I-II with a 2-week course of 3 mg dexamethasone twice daily. He is being followed up on the following schedule: 3–4 months in the first 2–3 years, then twice a year up to the fifth year. Disease free follow-up is 18 months.

Literature review

We searched EMBASE, MEDLINE, UpToDate, CINAHL, TRIP Database, BMJ Best Practice, Google Scholar, Cochrane Database of Systematic Reviews and NICE Evidence Search with the following search terms: rhabdomyosarcoma (RMS); ear; aural; middle ear; inner ear; ear canal, parameningeal; ear neoplasm in July 2018.

Inclusion criteria were: diagnosis of rhabdomyosarcoma of the middle ear; published in a peer reviewed journal; any geographical location or language; any publication date; any age of patient.

In total 11 case reports were found. Of these, there was an equal male-female split. The clinical presentations were similar throughout the case reports, mimicking recurrent otitis media/externa. The average survival across the case reports was 7.2 months. We summarise the case reports in Table 1.

Table 1. Summary of case reports.

CaseAuthorsPatient
sex
AgeJournal (year)SymptomInvestigationSubtypeManagementPrognosis
1Phatak et al.M2Indian Journal
of Otol 1999
CNVII palsyCTEmbryonalSurgery + CRTAlive at 18 mo
2Hu et al.M3Otol HNS 2002OtorrhoeaCTEmbryonalSurgery + CRTAlive at 18 mo
3Hu et al.M33Otol HNS 2002CNVII palsy
+ Otalgia
CTEmbryonalSurgery + CRTAlive at 24 mo
4Abbas et al.M3ENT Jour 2005OtorrhoeaCTEmbryonalCRTDied at 11 mo
5ViswanathaM4ENT Jour 2007CNVII +
CNVI
CTEmbryonalSurgery + CRTDied at 3 mo
6Muranjan et al.F5BMJ Case rep
2014
CNVII +
Otorrhoea
CT + MRIAnaplastic
subtype of
embryonal
CRTDied at 5 mo
7Vasiwala et al.M6Med J Malaysia
2015
CNVII +
Otorrhoea
CTEmbryonalSurgery + CRTDied at 7 mo
8Bhargava
et al.
M31J Surg Case
Rep 2012
CNVII +
Otorrhoea
CTEmbryonalSurgery + CRTDied at 6 mo
9Salunke et al.M3J Pediatr
Neurosci 2012
CNVII +
Otalgia +
H/Loss
CT + MRIEmbryonalSurgery + CRTDied at 6 mo
10Vegari et al.F3Case Rep
Otolary 2012
OtorrhoeaCTEmbryonalSurgery Died at 12 mo
11King et al.F2Brachytherapy
2017
MassCT + MRIBotyroidChemo +
Brachy
Alive at 8 mo

Discussion

Rhabdomyosarcoma of the middle ear and mastoid is rare2. Around 30% of cases of paediatric rhabdomyosarcoma occur in the head and neck involving the orbits, base of skull, nasal cavity and nasopharynx3 but only 3% occur in the ear or mastoid4. In total, 63% of rhabdomyosarcomas occur in children under 10 years old, with a peak between 2 and 5 years old5.

Presentation often involves purulent or blood-stained discharge, hearing loss, aural polyps and granulation tissue. Clinical diagnosis is often delayed since the presentation is similar to that of chronic suppurative otitis media6. By the time of diagnosis, a facial nerve palsy is usually present and there is involvement of both the middle and external ear and petrous bone7. Metastases commonly spread to the lungs, liver, bones and extremities, and are present in approximately 30% of cases3.

According to the International Classification of Rhabdomyosarcoma, these tumours are histopathologically classified into five categories: botryoid, spindle cell, embryonal, alveolar, and undifferentiated. Embryonal rhabdomyosarcoma is the most common, accounting for 70–80%, occurring mostly in the orbit and parameninges3. Alveolar is the second most common, usually presenting in the deep soft tissues of the extremities4.

Risk factors for rhabdomyosarcomas are poorly understood. Epidemiological studies have suggested a link with radiation and recreational drug in utero, lower socioeconomic status and use of antibiotics soon after birth8. Several genetic syndromes, including some commonly known to otolaryngologists such as Rubinstein-Taybi syndrome and Beckwith-Wiedemann syndrome, are associated with increased prevalence of rhabdomyosarcoma.

Historically, rhabdomyosarcomas were invariably fatal. Now, 5-year survival rates of around 80% have been reported9; however, surgical removal is often difficult in head and neck cases given the stage of the neoplasm and anatomy. Consequently, the mainstay of treatment is often chemoradiotherapy. Parameningeal tumours, especially of the middle ear and mastoid, have a poor prognosis because of the proximity to the brain6. Of the categories, embryonal have the best prognostic factor and alveolar the worst and children have a better prognosis than adults4.

Conclusion

Rhabdomyosarcoma of the ear is a rare presentation but one which should be considered in young children with recurrent otitis media. If missed, facial nerve involvement is a common as well as local meningeal and distant metastasis. Multi-disciplinary involvement and patient education is mandatory in ensuring the highest survival rates. Treatment consists of a combination of surgery, chemotherapy and/or radiotherapy.

Data availability

All data underlying the results are available as part of the article and no additional source data are required.

Consent

Written informed consent for publication of their clinical details as obtained from the parent of the patient study.

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Menzies-Wilson R, Wong G and Das P. Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy [version 2; peer review: 3 approved]. F1000Research 2019, 8:1734 (https://doi.org/10.12688/f1000research.20558.2)
NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article.
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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 1
VERSION 1
PUBLISHED 09 Oct 2019
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Reviewer Report 05 Nov 2019
Adam Haymes, Department of Otolaryngology Surgery, Medway Maritime Hospital, Gillingham, Kent, UK 
Approved
VIEWS 13
This article describes a case of botyroid embryonal rhabdomyosarcoma of the right middle ear in a four year old child. It covers the clinical presentation, workup and subsequent management of this rare entity and reviews the pertinent literature of other case ... Continue reading
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CITE
HOW TO CITE THIS REPORT
Haymes A. Reviewer Report For: Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy [version 2; peer review: 3 approved]. F1000Research 2019, 8:1734 (https://doi.org/10.5256/f1000research.22599.r54909)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
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31
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Reviewer Report 31 Oct 2019
Craig Hickson, Leicester Royal Infirmary, Leicester, UK 
Approved
VIEWS 31
This is a generally well written case report detailing a rare disease process in an unusual anatomical location. It covers pathogenesis, presentation, problems with diagnosis, treatment and prognosis.

It has multiple grammatical errors which need review and ... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Hickson C. Reviewer Report For: Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy [version 2; peer review: 3 approved]. F1000Research 2019, 8:1734 (https://doi.org/10.5256/f1000research.22599.r54912)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.
  • Author Response 15 Nov 2019
    Richard Menzies-Wilson, Urology Department, Whipps Cross University Hospital, London, UK
    15 Nov 2019
    Author Response
    Many Thanks for your comments.  We have adjusted the manuscript to reflect your feedback.
    Competing Interests: No competing interests were disclosed.
COMMENTS ON THIS REPORT
  • Author Response 15 Nov 2019
    Richard Menzies-Wilson, Urology Department, Whipps Cross University Hospital, London, UK
    15 Nov 2019
    Author Response
    Many Thanks for your comments.  We have adjusted the manuscript to reflect your feedback.
    Competing Interests: No competing interests were disclosed.
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Reviewer Report 16 Oct 2019
Max Cunnane, Royal Sussex County Hospital, Brighton, UK 
Approved
VIEWS 32
This is an interesting, concise and well-constructed case report and review of the relevant literature surrounding rhabdomyosarcoma affecting the middle ear. This is a rare entity and as such additional case reports are valuable in adding to the existing literature.
... Continue reading
CITE
CITE
HOW TO CITE THIS REPORT
Cunnane M. Reviewer Report For: Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy [version 2; peer review: 3 approved]. F1000Research 2019, 8:1734 (https://doi.org/10.5256/f1000research.22599.r54913)
NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article.

Comments on this article Comments (0)

Version 2
VERSION 2 PUBLISHED 09 Oct 2019
Comment
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
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