Oncogenic SDH mutation underlies global epigenomic instability in gastrointestinal stromal tumor

·发布 2013年5月22日 ·更新 2014年6月2日

144

样本数

144

实验数

芯片平台

相关文献

实验描述

We have discovered a striking connection between mitochondrial dysfunction and epigenomic instability, manifested by global biallelic DNA cytosine 5-methylation and loss of 5-hydroxymethycytosine within succinate dehydrogenase (SDH)-null gastrointestinal stromal tumors (GIST) relative to those bearing KIT or PDGFRA tyrosine kinase driver mutations. The duality of Krebs versus kinase molecular and epigenomic profiles in GIST provides compelling evidence linking mitochondrial process to nuclear structure and function and underscores an essential role for succinate metabolism in the maintenance of epigenomic programming and tumor suppression. Bisulfite-converted DNA from 144 samples were analyzed with the Illumina GoldenGate Methylation Cancer Panel I array.

参考文献

Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor.

Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, Quezado M, Smith WI Jr, Jahromi MS, Xekouki P, Szarek E, Walker RL, Lasota J, Raffeld M, Klotzle B, Wang Z, Jones L, Zhu Y, Wang Y, Waterfall JJ, O'Sullivan MJ, Bibikova M, Pacak K, Stratakis C, Janeway KA, Schiffman JD, Fan JB, Helman L, Meltzer PS

PMID: 23550148

芯片平台

A-GEOD-9183

Illumina GoldenGate Methylation Cancer Panel I（144 例）

样本属性

cell type

None, brain neuron

disease state

brain neuronal normal, gist sdh negative, gist sdh positive, liver normal, lymph node benign reactive, muscularis normal, small intestine normal, stomach normal

organism

Homo sapiens

organism part

None, gist sdh negative, gist sdh positive, liver, lymph node, muscularis, small intestine, stomach

实验信息

登记号

E-GEOD-34387

GEO 编号

GSE34387

实验类型

methylation profiling by array

物种

Homo sapiens

发布日期

2013年5月22日

更新日期

2014年6月2日

提交者

Robert L Walker、 Paul S Meltzer、 Mona Jahromi、 Maureen J O’Sullivan、 Carly Smith、 Markku Miettinen、 Jack Zhu、 Zengfeng F Wang、 Martha Quezado、 Maria Tsokos、 Joshua J Waterfall、 Jerzy Lasota、 Lee Helman、 J K Killian、 William I Smith、 Constantine Stratakis、 Joshua D Schiffman、 Su Y Kim、 Laura Jones、 Yuelin J Zhu

外部链接

ArrayExpress 原始页 NCBI GEO：GSE34387

分析服务

Oncogenic SDH mutation underlies global epigenomic instability in gastrointestinal stromal tumor

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