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Washington University Experience | NEOPLASMS (MESENCHYMAL, NON-MENINGOTHELIAL) | Primary Intracranial Sarcoma, Dicer 1 Mutant | 1I Primary Intracranial Sarcoma, Dicer 1 Mutant (Case 1) Ki67 20X
Ki-67 proliferation index is high, estimated up to ~70% focally. ---- Ancillary data: Mutant IDH1(R132H), MelanA and PR are negative in the tumor cells. ---- Further analysis: The collective features are consistent with a high-grade sarcoma harboring focal rhabdomyoblastic and chondroid differentiation. It was favored to represent a DICER1 mutant primary intracranial sarcoma, although precise characterization awaited targeted sequencing (FoundationOne CDx) and NIH DNA Methylation classification. ---- Targeted sequencing by FoundationOne CDx identified the following genetic alterations: ATM splice site 8786+1G>A; ATRX M1679fs*1; CHEK2 S422fs*15; KRAS A146V and equivocal IRS2 amplification ---- DNA methlyome analysis was most consistent with Primary Intracranial Sarcoma, DICER1-mutant
