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

Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.

Author information

1
1] Ludwig Center for Cancer Genetics, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA. [2] Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
2
Personalized Genome Diagnostics, Baltimore, Maryland, USA.
3
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
4
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
5
1] Ludwig Center for Cancer Genetics, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA. [2] Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. [3] Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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.

PMID:
25305755
PMCID:
PMC4383254
DOI:
10.1038/ng.3116
[Indexed for MEDLINE]
Free PMC Article

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