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

Nat Commun. 2014 Sep 19:5:5006. doi: 10.1038/ncomms6006.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Carcinosarcoma / genetics
  • Chromatin / metabolism*
  • Chromosomal Proteins, Non-Histone
  • DNA Mutational Analysis
  • DNA Repair
  • DNA-Binding Proteins / genetics
  • Exome
  • Female
  • Gene Library
  • Genes, p53
  • Genes, ras / genetics
  • Genital Neoplasms, Female / genetics*
  • Genital Neoplasms, Female / metabolism
  • Genomics
  • Humans
  • Middle Aged
  • Mutation*
  • Nuclear Proteins / genetics
  • Phenotype
  • Phosphatidylinositol 3-Kinases / metabolism
  • Repressor Proteins / genetics
  • Transcription Factors / genetics

Substances

  • ARID1A protein, human
  • ARID1B protein, human
  • BAZ1A protein, human
  • Chromatin
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • KMT2C protein, human
  • Nuclear Proteins
  • Repressor Proteins
  • SPOP protein, human
  • Transcription Factors