IDH2 mutation in gliomas including novel mutation. Issue 3 (12th December 2014)

• Record Type: Journal Article
• Authors: Koh, Jaemoon; Cho, Hwajin; Kim, Hannah; Kim, Seong Ik; Yun, Sumi; Park, Chul‐Kee; Lee, Se‐Hoon; Choi, Seung Hong; Park, Sung‐Hye
• Is Part Of: Neuropathology. Volume 35:Issue 3(2015)
• Page Start: 236
• Page End: 244
• Publication Date: 2014-12-12
• Subjects: Nervous system -- Diseases -- Periodicals; Nervous system -- Pathophysiology -- Periodicals; 616.8047
• DOI: 10.1111/neup.12187
• Languages: English
• ISSNs: 0919-6544

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Glioblastomas (GBMs) are the most aggressive type of primary brain tumors and provide a dismal prognosis. Thus far, several key genes have been identified in GBMs as prognostic and therapeutic targets. Mutations in two isocitrate dehydrogenase (<italic>IDH</italic>) genes, <italic>IDH1</italic> and <italic>IDH2</italic>, commonly occur in low‐grade gliomas and secondary high‐grade gliomas, but are rare in primary GBMs. These mutations alter the catalytic activity of IDH proteins, promoting gliomagenesis. Gliomas with <italic>IDH1</italic> or <italic>IDH2</italic> mutation have better outcomes than do gliomas with wild‐type <italic>IDH</italic>. The hot spots of <italic>IDH1</italic> mutations (R132) and <italic>IDH2</italic> mutations (R140 and R172) are well known and are considered as a possible biochemical explanation for the differing clinical characteristics of primary and secondary GBMs. We sought to find the incidence of <italic>IDH2</italic> mutation and the characteristics of the gliomas with <italic>IDH2</italic> mutation. Among 134 gliomas, which were operated in our hospital consecutively, we studied <italic>IDH1</italic> and <italic>IDH2</italic> mutations by Sanger sequencing and <italic>IDH2</italic> mutation was identified in seven cases (5.2%, four oligodendrogliomas and three GBMs). <italic>IDH2</italic> mutation was found in 3.3% of GBMs (3/90 cases) and 9.0% (4/44) of grades II to III gliomas. Here, we report the clinicopathological characteristics of the gliomas with <italic>IDH2</italic> mutations including two cases of primary GBM carrying a novel missense <italic>IDH2</italic> mutation (c. 484C>T, p. P162S).</p> </abstract>