Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors

被引：221

作者：

Zhang, Ming ^{[1
,2
]}

Wang, Yuxuan ^{[1
,2
]}

Jones, Sian

Sausen, Mark ^{[3
]}

McMahon, Kevin ^{[1
,2
]}

Sharma, Rajni ^{[4
]}

Wang, Qing ^{[1
,2
]}

Belzberg, Allan J. ^{[5
]}

Chaichana, Kaisorn ^{[5
]}

Gallia, Gary L. ^{[5
]}

Gokaslan, Ziya L. ^{[5
]}

Riggins, Greg J. ^{[5
]}

Wolinksy, Jean-Paul ^{[5
]}

Wood, Laura D. ^{[4
]}

Montgomery, Elizabeth A. ^{[4
]}

Hruban, Ralph H. ^{[4
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Papadopoulos, Nickolas ^{[1
,2
]}

Vogelstein, Bert ^{[1
,2
]}

Bettegowda, Chetan ^{[1
,2
,5
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA

[3] Personalized Genome Diagnost, Baltimore, MD USA

[4] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA

[5] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21205 USA

来源：

NATURE GENETICS | 2014年 / 46卷 / 11期

关键词：

ACUTE LYMPHOBLASTIC-LEUKEMIA; NEUROFIBROMATOSIS TYPE-1; CELL-PROLIFERATION; NF1; MICRODELETIONS; CANCER CELLS; PHENOTYPE; GENOTYPE; GENES;

D O I：

10.1038/ng.3116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1170 / 1172

页数：3

共 19 条

[1] Inhibition of PRC2 histone methyltransferase activity increases TRAIL-mediated apoptosis sensitivity in human colon cancer cells [J].