Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors

Nat Genet. 2014 Nov;46(11):1170-2. doi: 10.1038/ng.3116. Epub 2014 Oct 12.


Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Computational Biology
  • Humans
  • Immunohistochemistry
  • Molecular Sequence Data
  • Mutation / genetics
  • Neoplasm Proteins
  • Neurilemmoma / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Polycomb Repressive Complex 2 / genetics*
  • Sequence Analysis, DNA
  • Transcription Factors


  • Neoplasm Proteins
  • SUZ12 protein, human
  • Transcription Factors
  • Polycomb Repressive Complex 2