Authors
Stephen Yip, Yaron S Butterfield, Olena Morozova, Suganthi Chittaranjan, Michael D Blough, Jianghong An, Inanc Birol, Charles Chesnelong, Readman Chiu, Eric Chuah, Richard Corbett, Rod Docking, Marlo Firme, Martin Hirst, Shaun Jackman, Aly Karsan, Haiyan Li, David N Louis, Alexandra Maslova, Richard Moore, Annie Moradian, Karen L Mungall, Marco Perizzolo, Jenny Qian, Gloria Roldan, Eric E Smith, Jessica Tamura‐Wells, Nina Thiessen, Richard Varhol, Samuel Weiss, Wei Wu, Sean Young, Yongjun Zhao, Andrew J Mungall, Steven JM Jones, Gregg B Morin, Jennifer A Chan, J Gregory Cairncross, Marco A Marra
Publication date
2012/1
Journal
The Journal of Pathology
Volume
226
Issue
1
Pages
7-16
Publisher
John Wiley & Sons, Ltd.
Description
Oligodendroglioma is characterized by unique clinical, pathological, and genetic features. Recurrent losses of chromosomes 1p and 19q are strongly associated with this brain cancer but knowledge of the identity and function of the genes affected by these alterations is limited. We performed exome sequencing on a discovery set of 16 oligodendrogliomas with 1p/19q co‐deletion to identify new molecular features at base‐pair resolution. As anticipated, there was a high rate of IDH mutations: all cases had mutations in either IDH1 (14/16) or IDH2 (2/16). In addition, we discovered somatic mutations and insertions/deletions in the CIC gene on chromosome 19q13.2 in 13/16 tumours. These discovery set mutations were validated by deep sequencing of 13 additional tumours, which revealed seven others with CIC mutations, thus bringing the overall mutation rate in oligodendrogliomas in this study to 20/29 (69%). In …
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