PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas

Kirsi J. Rautajoki, Serafiina Jaatinen, Aliisa M. Tiihonen, Matti Annala, Elisa M. Vuorinen, Anni Kivinen, Minna J. Rauhala, Kendra K. Maass, Kristian W. Pajtler, Olli Yli-Harja, Pauli Helén, Joonas Haapasalo, Hannu Haapasalo, Wei Zhang, Matti Nykter

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Oligodendrogliomas are typically associated with the most favorable prognosis among diffuse gliomas. However, many of the tumors progress, eventually leading to patient death. To characterize the changes associated with oligodendroglioma recurrence and progression, we analyzed two recurrent oligodendroglioma tumors upon diagnosis and after tumor relapse based on whole-genome and RNA sequencing. Relapsed tumors were diagnosed as glioblastomas with an oligodendroglioma component before the World Health Organization classification update in 2016. Both patients died within 12 months after relapse. One patient carried an inactivating POLE mutation leading to a clearly hypermutated progressed tumor. Strikingly, both relapsed tumors carried focal chromosomal rearrangements in PTPRD and CNTNAP2 genes with associated decreased gene expression. TP53 mutation was also detected in both patients after tumor relapse. In The Cancer Genome Atlas (TCGA) diffuse glioma cohort, PTPRD and CNTNAP2 expression decreased by tumor grade in oligodendrogliomas and PTPRD expression also in IDH-mutant astrocytomas. Low expression of the genes was associated with poor overall survival. Our analysis provides information about aggressive oligodendrogliomas with worse prognosis and suggests that PTPRD and CNTNAP2 expression could represent an informative marker for their stratification.

Original languageEnglish
Article number14083
JournalScientific Reports
Volume12
DOIs
Publication statusPublished - 18 Aug 2022
Publication typeA1 Journal article-refereed

Publication forum classification

  • Publication forum level 1

ASJC Scopus subject areas

  • General

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