@article{80e86b788a3f4436aa2ebd678a4fa8f9,
title = "PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas",
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.",
author = "Rautajoki, {Kirsi J.} and Serafiina Jaatinen and Tiihonen, {Aliisa M.} and Matti Annala and Vuorinen, {Elisa M.} and Anni Kivinen and Rauhala, {Minna J.} and Maass, {Kendra K.} and Pajtler, {Kristian W.} and Olli Yli-Harja and Pauli Hel{\'e}n and Joonas Haapasalo and Hannu Haapasalo and Wei Zhang and Matti Nykter",
note = "Funding Information: We would like to acknowledge Mrs. Paula Kosonen, Mrs. P{\"a}ivi Martikainen, Mrs. Marika V{\"a}h{\"a}-Jaakkola, Mrs. Marja Pirinen, Mrs. Sari Toivola, and Mrs. Hanna Selin for sample handling and logistics and Dr. Riikka Nurminen for preprocessing and clarifying the TCGA/ICGC rearrangement data and related annotations. Personnel at Tampere University Hospital and Fimlab laboratories Ltd. are acknowledged for their contribution to sample collection. We are grateful for them and the patients for permitting the analysis of patient material. The study was financially supported by the Academy of Finland (#312043 (M.N.), #310829 (M.N.), #333545 (K.J.R.)), Cancer Foundation Finland (M.N., K.J.R.), Sigrid Jus{\'e}lius Foundation (M.N., K.J.R.), Emil Aaltonen Foundation (K.J.R.), Finnish Cancer Institute (M.N.), Competitive State Research Financing of the Expert Responsibility area of Tampere University Hospital (M.N., K.J.R.), and Finnish Cultural Foundation (E.M.V.). The results published here are in part based upon data generated by The Cancer Genome Atlas (TCGA) project established by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI). TCGA rearrangement data were preprocessed by the International Cancer Genome Consortium (ICGC). We acknowledge the CSC—IT Centre for Science, Finland, for providing computational resources. Funding Information: We would like to acknowledge Mrs. Paula Kosonen, Mrs. P{\"a}ivi Martikainen, Mrs. Marika V{\"a}h{\"a}-Jaakkola, Mrs. Marja Pirinen, Mrs. Sari Toivola, and Mrs. Hanna Selin for sample handling and logistics and Dr. Riikka Nurminen for preprocessing and clarifying the TCGA/ICGC rearrangement data and related annotations. Personnel at Tampere University Hospital and Fimlab laboratories Ltd. are acknowledged for their contribution to sample collection. We are grateful for them and the patients for permitting the analysis of patient material. The study was financially supported by the Academy of Finland (#312043 (M.N.), #310829 (M.N.), #333545 (K.J.R.)), Cancer Foundation Finland (M.N., K.J.R.), Sigrid Jus{\'e}lius Foundation (M.N., K.J.R.), Emil Aaltonen Foundation (K.J.R.), Finnish Cancer Institute (M.N.), Competitive State Research Financing of the Expert Responsibility area of Tampere University Hospital (M.N., K.J.R.), and Finnish Cultural Foundation (E.M.V.). The results published here are in part based upon data generated by The Cancer Genome Atlas (TCGA) project established by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI). TCGA rearrangement data were preprocessed by the International Cancer Genome Consortium (ICGC). We acknowledge the CSC—IT Centre for Science, Finland, for providing computational resources. Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
month = aug,
day = "18",
doi = "10.1038/s41598-022-14977-2",
language = "English",
volume = "12",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Research",
}
