title: 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.
authors.affiliation: 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.
authors.forename: Ming
authors.initials: M
authors.lastname: Zhang
authors.affiliation: 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.
authors.forename: Yuxuan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Personalized Genome Diagnostics, Baltimore, Maryland, USA.
authors.forename: Sian
authors.initials: S
authors.lastname: Jones
authors.affiliation: Personalized Genome Diagnostics, Baltimore, Maryland, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Sausen
authors.affiliation: 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.
authors.forename: Kevin
authors.initials: K
authors.lastname: McMahon
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Rajni
authors.initials: R
authors.lastname: Sharma
authors.affiliation: 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.
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Allan J
authors.initials: AJ
authors.lastname: Belzberg
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Kaisorn
authors.initials: K
authors.lastname: Chaichana
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Gary L
authors.initials: GL
authors.lastname: Gallia
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Ziya L
authors.initials: ZL
authors.lastname: Gokaslan
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Greg J
authors.initials: GJ
authors.lastname: Riggins
authors.affiliation: Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Wolinksy
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Laura D
authors.initials: LD
authors.lastname: Wood
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Montgomery
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Ralph H
authors.initials: RH
authors.lastname: Hruban
authors.affiliation: 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.
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Kinzler
authors.affiliation: 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.
authors.forename: Nickolas
authors.initials: N
authors.lastname: Papadopoulos
authors.affiliation: 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.
authors.forename: Bert
authors.initials: B
authors.lastname: Vogelstein
authors.affiliation: 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.
authors.forename: Chetan
authors.initials: C
authors.lastname: Bettegowda
mesh_terms: D001483:Base Sequence; D019295:Computational Biology; D006801:Humans; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins; D009442:Neurilemmoma / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D063151:Polycomb Repressive Complex 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014157:Transcription Factors
chemical_list: D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors; D063151:Polycomb Repressive Complex 2