Ovarian Germ Cell Tumor (OGCT)

Overview

Ovarian Germ Cell Tumor (parent OVARY).

makeanimpact_ccr_2023: 83 female germ cell tumor patients had MSK-IMPACT (67 ovarian primaries); 59 had WES recapture on 62 tumor/normal pairs PMID:36862133.

Oncogenic mutations in KIT, KRAS, and TP53 in a minority of female GCTs; mostly clonal by WES PMID:36862133.
Mean TMB was low (2.86; range 0–42.1); two ovarian GCTs with squamous transformation were TMB-H (28.1 and 42.1 mut/Mb) PMID:36862133.
Whole genome doubling observed in ≥13 patients PMID:36862133.
17% (n=10) of female GCTs had a near-haploid genomic profile, mutually exclusive with 12p gain — a phenotype rarely observed in other cancer types PMID:36862133.
51% of arm-level deletions in female GCTs contained a reciprocal amplification (reciprocal LOH), vs 4% in TCGA-OV PMID:36862133.

Near-haploid genomic subtype (17%) distinct from the 12p-gain subtype PMID:36862133.

One TMB-H ovarian GCT with squamous transformation (42.1 mut/Mb) achieved complete response to pembrolizumab, ongoing at 34 months PMID:36862133.
Two PIK3CA-mutant ovarian GCT patients had no durable response to alpelisib, in contrast to a PIK3CA-mutant histiocytosis patient who did respond — suggesting lineage-specific conditioning of targeted therapy response PMID:36862133.
One ERBB2-amplified female GCT patient treated with trastuzumab had no durable response PMID:36862133.

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