PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors

Nat Genet. 2014 Nov;46(11):1227-32. doi: 10.1038/ng.3095. Epub 2014 Sep 21.

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) represent a group of highly aggressive soft-tissue sarcomas that may occur sporadically, in association with neurofibromatosis type I (NF1 associated) or after radiotherapy. Using comprehensive genomic approaches, we identified loss-of-function somatic alterations of the Polycomb repressive complex 2 (PRC2) components (EED or SUZ12) in 92% of sporadic, 70% of NF1-associated and 90% of radiotherapy-associated MPNSTs. MPNSTs with PRC2 loss showed complete loss of trimethylation at lysine 27 of histone H3 (H3K27me3) and aberrant transcriptional activation of multiple PRC2-repressed homeobox master regulators and their regulated developmental pathways. Introduction of the lost PRC2 component in a PRC2-deficient MPNST cell line restored H3K27me3 levels and decreased cell growth. Additionally, we identified frequent somatic alterations of CDKN2A (81% of all MPNSTs) and NF1 (72% of non-NF1-associated MPNSTs), both of which significantly co-occur with PRC2 alterations. The highly recurrent and specific inactivation of PRC2 components, NF1 and CDKN2A highlights their critical and potentially cooperative roles in MPNST pathogenesis.

Publication types

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

MeSH terms

  • Base Sequence
  • Cell Line, Tumor
  • Chromatin Immunoprecipitation
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • DNA Methylation
  • DNA Primers / genetics
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic / genetics*
  • Genomics / methods
  • Histones / metabolism*
  • Humans
  • Immunohistochemistry
  • Molecular Sequence Data
  • Mutation / genetics
  • Neoplasm Proteins
  • Neurilemmoma / genetics*
  • Neurofibromin 1 / genetics
  • Polycomb Repressive Complex 2 / genetics*
  • Polycomb Repressive Complex 2 / metabolism
  • Real-Time Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Transcription Factors

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA Primers
  • EED protein, human
  • Histones
  • Neoplasm Proteins
  • Neurofibromin 1
  • SUZ12 protein, human
  • Transcription Factors
  • Polycomb Repressive Complex 2

Associated data

  • dbGaP/PHS000792.V1.P1