Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors

• DOI: 10.1038/ng.3116
• Publication Date: 2014-10-12T21:41:49Z
• Authors: Ming Zhang; Yuxuan Wang; Sian Jones; Mark Sausen; Kevin McMahon; Rajni Sharma; Qing Wang; Allan J Belzberg; Kaisorn Chaichana; Gary L Gallia; Ziya L Gokaslan; Greg J Riggins; Jean-Paul Wolinksy; Laura D Wood; Elizabeth A Montg...; Ralph H Hruban; Kenneth W Kinzler; Nickolas Papadopo...; Bert Vogelstein; Chetan Bettegowda
• Keywords: Malignant Transformation; Nerve sheath neoplasm

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.