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Malignant mixed Müllerian tumours, also known as carcinosarcomas, are rare tumours of gynaecological origin. Here we perform whole-exome analyses of 22 tumours using massively parallel sequencing to determine the mutational landscape of this tumour type. On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. In addition to mutations in  TP53  and  KRAS , we identify genetic alterations in chromatin remodelling genes,  ARID1A  and  ARID1B , in histone methyltransferase  MLL3 , in histone deacetylase modifier  SPOP  and in chromatin assembly factor  BAZ1A , in nearly two thirds of cases. Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. These findings highlight the importance of the dysregulation of chromatin remodelling in carcinosarcoma tumorigenesis and suggest new avenues for personalized therapy.

Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes