PMID- 37392767
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231010
IS  - 2694-1902 (Electronic)
IS  - 2694-1902 (Linking)
VI  - 6
IP  - 1
DP  - 2023 Jul 3
TI  - Detailed molecular and pathological analyses of primary intracranial embryonal 
      rhabdomyosarcoma with a BRAF mutation: illustrative case.
LID - CASE23207 [pii]
LID - 10.3171/CASE23207 [doi]
AB  - BACKGROUND: 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. OBSERVATIONS: 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. LESSONS: 
      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.
FAU - Abe, Masamichi
AU  - Abe M
AD  - Departments of1Neurosurgery and.
FAU - Ono, Takahiro
AU  - Ono T
AD  - Departments of1Neurosurgery and.
FAU - Hinz, Felix
AU  - Hinz F
AD  - 2Department for Neuropathology, Heidelberg University Hospital, Heidelberg, 
      Germany.
AD  - 3Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), 
      German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany; 
      and.
FAU - Takahashi, Masataka
AU  - Takahashi M
AD  - Departments of1Neurosurgery and.
FAU - Hiroshima, Yuko
AU  - Hiroshima Y
AD  - 4Department of Clinical Pathology, Akita University Hospital, Akita, Japan.
FAU - Kodama, Koya
AU  - Kodama K
AD  - 5Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
FAU - Yano, Michihiro
AU  - Yano M
AD  - 5Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
FAU - Nanjo, Hiroshi
AU  - Nanjo H
AD  - 4Department of Clinical Pathology, Akita University Hospital, Akita, Japan.
FAU - Takahashi, Tsutomu
AU  - Takahashi T
AD  - 5Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
FAU - von Deimling, Andreas
AU  - von Deimling A
AD  - 2Department for Neuropathology, Heidelberg University Hospital, Heidelberg, 
      Germany.
AD  - 3Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), 
      German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany; 
      and.
FAU - Shimizu, Hiroaki
AU  - Shimizu H
AD  - Departments of1Neurosurgery and.
LA  - eng
PT  - Journal Article
DEP - 20230703
PL  - United States
TA  - J Neurosurg Case Lessons
JT  - Journal of neurosurgery. Case lessons
JID - 9918227275606676
PMC - PMC10555630
OTO - NOTNLM
OT  - BRAF
OT  - intra-axial tumor
OT  - methylation profile
OT  - next-generation sequencing
OT  - rhabdomyosarcoma
COIS- Disclosures Dr. von Deimling reported a patent for a DNA-methylation-based method 
      for classifying tumor species EP16710700 issued.
EDAT- 2023/07/02 01:10
MHDA- 2023/07/02 01:11
PMCR- 2023/07/03
CRDT- 2023/07/01 19:02
PHST- 2023/04/15 00:00 [received]
PHST- 2023/05/15 00:00 [accepted]
PHST- 2023/07/02 01:11 [medline]
PHST- 2023/07/02 01:10 [pubmed]
PHST- 2023/07/01 19:02 [entrez]
PHST- 2023/07/03 00:00 [pmc-release]
AID - CASE23207 [pii]
AID - 10.3171/CASE23207 [doi]
PST - epublish
SO  - J Neurosurg Case Lessons. 2023 Jul 3;6(1):CASE23207. doi: 10.3171/CASE23207. 
      Print 2023 Jul 3.