Novel mutations target distinct subgroups of medulloblastoma

·发布 2012年7月5日 ·更新 2012年7月17日

样本数

实验数

芯片平台

相关文献

实验描述

Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma: several target distinct components of the epigenetic machinery in different disease subgroups, e.g., regulators of H3K27 and H3K4 trimethylation in subgroup-3 and 4 (e.g., KDM6A and ZMYM3), and CTNNB1-associated chromatin remodellers in WNT-subgroup tumours (e.g., SMARCA4 and CREBBP). Modelling of mutations in mouse lower rhombic lip progenitors that generate WNT-subgroup tumours, identified genes that maintain this cell lineage (DDX3X) as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA) in tumourigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development. A total of 76 pediatric medulloblastoma samples were analyzed, representing 4 expression classes

参考文献

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L, Phoenix TN, Hedlund E, Wei L, Zhu X, Chalhoub N, Baker SJ, Huether R, Kriwacki R, Curley N, Thiruvenkatam R, Wang J, Wu G, Rusch M, Hong X, Becksfort J, Gupta P, Ma J, Easton J, Vadodaria B, Onar-Thomas A, Lin T, Li S, Pounds S, Paugh S, Zhao D, Kawauchi D, Roussel MF, Finkelstein D, Ellison DW, Lau CC, Bouffet E, Hassall T, Gururangan S, Cohn R, Fulton RS, Fulton LL, Dooling DJ, Ochoa K, Gajjar A, Mardis ER, Wilson RK, Downing JR, Zhang J, Gilbertson RJ

PMID: 22722829

芯片平台

A-AFFY-44

Affymetrix GeneChip Human Genome U133 Plus 2.0 [HG-U133_Plus_2]（76 例）

样本属性

age

10yrs 0mos, 10yrs 10mos, 10yrs 3mos, 11yrs 7mos, 11yrs 8mos, 11yrs 9mos, 12yrs 11mos, 12yrs 1mos, 12yrs 2mos, 13yrs 5mos, 13yrs 7mos, 14yrs 8mos, 16yrs 1mos, 16yrs 8mos, 3yrs 11mos, 3yrs 2mos, 3yrs 4mos, 3yrs 8mos, 4yrs 11mos, 4yrs 1mos, 4yrs 3mos, 4yrs 8mos, 5yrs 0mos, 5yrs 10mos, 5yrs 1mos, 5yrs 2mos, 5yrs 5mos, 5yrs 9mos, 6yrs 11mos, 6yrs 2mos, 6yrs 4mos, 6yrs 6mos, 6yrs 9mos, 7yrs 0mos, 7yrs 1mos, 7yrs 9mos, 8yrs 1mos, 8yrs 2mos, 8yrs 3mos, 8yrs 4mos, 8yrs 5mos, 8yrs 6mos, 8yrs 7mos, 8yrs 8mos, 8yrs 9mos, 9yrs 0mos, 9yrs 10mos, 9yrs 1mos, 9yrs 2mos, 9yrs 4mos, 9yrs 8mos

ethnic

Asian, Asian Indian, Black, Hispanic, other, Pacific Islander, White

m stage

MB-AN, MB-CL, MB-DN, MB-Myo

Organism

Homo sapiens

Sex

female, male

subgroup

G3, G4, SHH, SHH OUTLIER, U, WNT

实验信息

登记号

E-GEOD-37418

GEO 编号

GSE37418

实验类型

transcription profiling by array

物种

Homo sapiens

发布日期

2012年7月5日

更新日期

2012年7月17日

提交者

Jared Beckford、 Pankaj Gupta、 Richard Cohn、 Shaoyi Li、 Radhika Thiruvenkatam、 Richard J Gilbertson、 Erin Hedlund、 John Easton、 Ching C Lau、 Kerri Ochoa、 Lucinda L Fulton、 Xiaoyan Zhu、 Jianmin Wang、 David W Ellison、 Jing Ma、 David Zhao、 Eric Bouffet、 Stanley Pounds、 Robert S Fulton1、 Matthew Parker、 Elaine R Mardis、 Arzu Onar-Thomas、 Richard K Wilson、 James R Downing、 Li Ding、 Martine F Roussel、 Sridharan Gururangan、 Lei Wei、 Jinghui Zhang、 Nader Chalhoub、 Natasha Curley、 Amar Gajjar、 Michael Rusch、 Robert Huether、 Richard Kriwacki、 David J Dooling、 David Finkelstein、 Tong Lin、 Steven Paugh、 Giles Robinson、 David Finkelstein、 Bhavin Vadodaria、 Xiang Chen、 Tim Hassall、 Xin Hong、 Suzanne J Baker、 Tanya A Kranenburg、 Gang Wu、 Charles Lu、 Timothy N Phoenix、 Daisuke Kawauchi

外部链接

ArrayExpress 原始页 NCBI GEO：GSE37418

分析服务

Novel mutations target distinct subgroups of medulloblastoma

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