Primary intracranial rhabdomyosarcoma of the cerebellopontine angle mimicking a vestibular schwannoma in a child

Nair, Prakash; Das, Kuntal Kanti; Srivastava, Arun Kumar; Sahu, RN; Kumar, Raj; Yadava, Kamlesh; Pandey, Rakesh

doi:10.4103/1793-5482.150000

Cited by 7 publications

(4 citation statements)

References 13 publications

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“…It invaded the local bone and cranial nerves and led to hydrocephalus secondary to ventricular obstruction. Other reports have shown a similar progression from parameningeal rhabdomyosarcomas [ 9 , 12 , 15 , 16 ].…”

Section: Discussionsupporting

confidence: 64%

“…Previous reports suggest symptoms and imaging were often initially indicative of another diagnosis such as vestibular schwannoma [ 9 , 12 ] or otitis media [ 10 , 13 ] prior to histological diagnosis. MRI or CT imaging alone is unable to differentiate intracranial rhabdomyosarcomas from some other tumour types, including vestibular schwannomas [ 14 ], and histological diagnosis is therefore required.…”

Section: Discussionmentioning

confidence: 99%

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A rare presentation of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma mimicking vestibular schwannoma in a two-year-old child: a case report

et al. 2022

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Intracranial parameningeal rhabdomyosarcomas are rare, aggressive, rapidly progressive paediatric malignancies that carry a poor prognosis. The authors report a case of a 2-year-old boy who initially presented with a left facial palsy, ataxia and, shortly after, bloody otorrhoea. MRI imaging was initially suggestive of a vestibular schwannoma. However, there was rapid progression of symptoms and further MRI imaging showed very rapid increase in tumour size with mass effect and development of a similar tumour on the contralateral side. A histological diagnosis of bilateral parameningeal embryonal rhabdomyosarcoma was made. Despite treatment, progression led to hydrocephalus and diffuse leptomeningeal disease, from which the patient did not survive. Few intracranial parameningeal rhabdomyosarcomas have previously been reported and these report similar presenting symptoms and rapid disease progression. However, this is the first reported case of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma which, on initial presentation and imaging, appeared to mimic a vestibular schwannoma.

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Section: Discussionsupporting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

A rare presentation of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma mimicking vestibular schwannoma in a two-year-old child: a case report

et al. 2022

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“…[ 5 ] Unfortunately, RMS cannot be distinguished from other primary or metastatic tumors of the brain with imaging alone. 4 …”

Section: Discussionmentioning

confidence: 99%

“…[ 3 ] Intracranial RMS are rare tumors that usually arise from parameningeal sites or metastasis from an extracranial site. [ 4 ] Primary intracranial types are even more rare, with only 50 reported cases of primary intracranial RMS in the literature. [ 5 ]…”

Section: Introductionmentioning

confidence: 99%

Intracranial rhabdomyosarcoma of the cerebellopontine angle in a 6-year-old child: A case report

et al. 2020

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A BSTRACT Rhabdomyosarcoma (RMS) is the most common soft-tissue malignancy in children under 15 years of age. Approximately, 35% of RMS cases originate from the head and neck region. Among various sites in the head and neck region, intracranial extension is more likely to occur with parameningeal tumors, which is also considered an unfavorable prognostic factor in children with RMS. About 20% of RMS occurs in a parameningeal site. Intracranial RMS are rare tumors that usually arise from parameningeal sites or metastasis from an extracranial site. Primary intracranial types are even rarer, with only 50 reported cases of primary intracranial RMS in the literature. Hereby, we report the case of a 6-year-old boy who presented with clinical and radiologic features of a cerebellopontine angle lesion, which turned out to be a RMS.

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Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

et al. 2018

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Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%). In addition, 17/22 (77%) sarcomas exhibited alterations in the mitogen-activated protein kinase pathway, most frequently affecting the mutational hotspots of KRAS (8/22; 36%) and mutations or deletions of NF1 (7/22; 32%), followed by mutations of FGFR4 (2/22; 9%), NRAS (2/22; 9%), and amplification of EGFR (1/22; 5%). A germline DICER1 mutation was detected in two of five cases with constitutional DNA available. Notably, none of the patients showed evidence of a cancer-related syndrome at the time of diagnosis. In contrast to the genetic findings, the morphological features of these tumors were less distinctive, although rhabdomyoblasts or rhabdomyoblast-like cells could retrospectively be detected in all cases. The identified combination of genetic events indicates a relationship between the intracranial tumors analyzed and DICER1 predisposition syndrome-associated sarcomas such as embryonal rhabdomyosarcoma or the recently described group of anaplastic sarcomas of the kidney. However, the intracranial tumors in our series were initially interpreted to represent various tumor types, but rhabdomyosarcoma was not among the typical differential diagnoses considered. Given the rarity of intracranial sarcomas, this molecularly clearly defined group comprises a considerable fraction thereof. We therefore propose the designation "spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant" for this intriguing group.

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Primary intracranial rhabdomyosarcoma of the cerebellopontine angle mimicking a vestibular schwannoma in a child

Cited by 7 publications

References 13 publications

A rare presentation of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma mimicking vestibular schwannoma in a two-year-old child: a case report

A rare presentation of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma mimicking vestibular schwannoma in a two-year-old child: a case report

Intracranial rhabdomyosarcoma of the cerebellopontine angle in a 6-year-old child: A case report

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

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