Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors

Abstract

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.

Figure 1

Somatic mutations in MPNSTs. (a) Distribution of somatic mutations in NF1, NF2 and genes involved with the PRC2 complex. (b) Schematic of the distribution of SUZ12 mutations along the gene. Black arrows represent nonsynonymous mutations, blue arrows represent splice-site alterations and red arrows represent indels. The arrows immediately above the schematic represent mutations observed in the samples that underwent whole-genome or whole-exome sequencing, whereas those in the second row above the schematic represent mutations observed in the samples having undergone targeted sequencing.