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Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma : A case report

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Title: Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma : A case report
Authors: Ishi, Yukitomo Browse this author →KAKEN DB
Okada, Hiromi Browse this author
Okamoto, Michinari Browse this author
Motegi, Hiroaki Browse this author →KAKEN DB
Tanaka, Shinya Browse this author →KAKEN DB
Mitsuhashi, Tomoko Browse this author
Yamaguchi, Shigeru Browse this author
Keywords: C228T
oligodendroglial tumor
Issue Date: 1-Jun-2021
Publisher: John Wiley & Sons
Journal Title: Neuropathology
Volume: 41
Issue: 3
Start Page: 236
End Page: 242
Publisher DOI: 10.1111/neup.12727
Abstract: The majority of oligodendroglial tumors harbor mutations in the telomerase reverse transcriptase (TERT) gene (TERT) promoter and the isocitrate dehydrogenase 1/2 (IDH1/2) gene (IDH1/2), as well as 1p/19q codeletion. Generally, TERT promoter mutations, C250T and C228T, are mutually exclusive. We present a case of oligodendroglioma harboring both C250T and C228T mutations in TERT promoter. A 38-year-old man presented with grand mal seizures and underwent a resection surgery for a left frontal lobe tumor. He was pathologically diagnosed as having oligodendroglioma and was carefully observed. At 48 years of age, he underwent another resection surgery due to tumor regrowth, with the pathological diagnosis of anaplastic oligodendroglioma. Genetic analysis of the initial tumor specimen revealed IDH1 R132H mutation and both C250T and C228T mutations in TERT promoter. Using mutation-specific primers, two mutations were considered to be distributed in different alleles. In the tumor specimen obtained during the second surgery, IDH1 R132H mutation was detected to be similar to that of the initial specimen; however, only C228T mutation was detected in TERT promoter. The 1p/19q codeletion was detected in both the initial and recurrent tumor specimens. According to the sequencing data from the two tumor specimens, although TERT promoter mutation has been considered to be an early genetic event in the tumorigenesis of oligodendroglial tumors, it is likely that the C250T and C228T mutations in TERT promoter are subclonally distributed in the same tumor specimen of the present case.
Rights: This is the peer reviewed version of the following article: Ishi, Y., Okada, H., Okamoto, M., Motegi, H., Tanaka, S., Mitsuhashi, T. and Yamaguchi, S. (2021), Distinct TERT promoter C228T and C250T mutations in a patient with an oligodendroglioma: A case report. Neuropathology, 41: 236-242 which has been published in final form at Link to final article using the 10.1111/neup.12727. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 伊師 雪友

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