Study

Adult granulosa cell tumor WGS data cohort with corresponding reference germline WGS data

Study ID Alternative Stable ID Type
EGAS00001004249 Other

Study Description

Adult granulosa cell tumors (AGCTs) harbor a somatic FOXL2 c.402C>G mutation in ~95% of cases and are mainly surgically removed due to limited systemic treatment effect. In this study, potentially targetable genomic alterations in AGCTs were investigated by whole genome sequencing on 46 tumor samples and matched normal DNA. Copy number variant (CNV) analysis confirmed gain  of chromosome 12 and 14, and loss of 22. Pathogenic TP53 mutations were identified in three patients with highest tumor mutational burden and mitotic activity, defining a high-grade AGCT subgroup. Within-patient tumor comparisons showed 29-80% unique somatic mutations per sample, suggesting tumor heterogeneity. FOXL2-wildtype AGCTs had DICER1, TERT(C228T) and TP53 mutations and similar CNV profiles as FOXL2-mutant tumors. Our study confirms that absence of the FOXL2 c.402C>G mutation does not exclude AGCT diagnosis. The lack of overlapping variants in targetable cancer genes, indicates the need for personalized treatment for AGCT patients 

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001005999
Contains 46 aGCT tumor sample WGS BAMs from 33 patients and corresponding 33 germline reference WGS BAMs from those 33 patients
Illumina NovaSeq 6000 79

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