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Broad genotyping of consecutive endometrial cancer samples enables the identification of rare and novel mutations

Previous genetic analyses of endometrial cancer have either suffered from analyzing a small set of genes or a limited number/selected subset of samples. Both hinder the ability to find rare mutations that may be clinically relevant. Here we describe the results of broadly genotyping consecutive samples of endometrial cancer. Endometrial cancer samples containing >;250 ng of DNA were genotyped for 471 mutations in 41 cancer‐associated genes using a PCR‐mass spectrometry assay (Sequenom). Of the 152 endometrial tumors, 113 showed endometrioid (EACA) histology, 15 serous, 6 poorly differentiated/mixed, 5 clear cell, and 13 adeno/carcinosarcomas. 88(78%) of the EACAs contained at least one mutation. The type or number of mutations in a given sample did not correlate with either grade or presence of metastasis. Several mutations were identified in EACA that had not been reported as frequent findings in this tumor type (AKT1, MET, APC), including a mutation in MYC (p. A59V) that is, to our knowledge, novel in this tumor type. Routine tumor genotyping enabled the identification of mutations not commonly associated with the given tumor type. Clinically, this could provide valuable unanticipated information for targeted therapy [PIK3CA, IDH1]. In addition, genotyping enables correlation between combinations of mutations and, potentially, clincopathologic features, potentially suggesting new areas of research.