Journal Article

DKFZ-2023-01327

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Detailed molecular and pathological analyses of primary intracranial embryonal rhabdomyosarcoma with a BRAF mutation: illustrative case.

Abe, M. ; Ono, T. ; Hinz, F.DKFZ* ; Takahashi, M. ; Hiroshima, Y. ; Kodama, K. ; Yano, M. ; Nanjo, H. ; Takahashi, T. ; von Deimling, A.DKFZ* ; Shimizu, H.

2023
American Association of Neurological Surgeons Charlottesville, Va.

This record in other databases:  

Please use a persistent id in citations: doi:10.3171/CASE23207

Abstract: The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a BRAF mutation.A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a BRAF mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery.This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in BRAF but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.

Keyword(s): BRAF ; intra-axial tumor ; methylation profile ; next-generation sequencing ; rhabdomyosarcoma

Note: 2023 Jul 3;6(1):CASE23207

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Contributing Institute(s):

1. KKE Neuropathologie (B300)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2023

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Database coverage:
; PubMed Central

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