Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas

• Published in: Scientific reports Vol. 13; no. 1; p. 18436
• Main Authors: Bedics, Gábor, Szőke, Péter, Bátai, Bence, Nagy, Tibor, Papp, Gergő, Kránitz, Noémi, Rajnai, Hajnalka, Reiniger, Lilla, Bödör, Csaba, Scheich, Bálint
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 27.10.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 631/67/1922; 631/67/68; 692/699/375; 692/699/67; Brain tumors; DNA repair; Epigenetics; Genomic analysis; Genomics; Glioma; Homologous recombination; Homologous recombination repair; Humanities and Social Sciences; Immunotherapy; MAP kinase; Mismatch repair; MSH2 protein; MSH6 protein; multidisciplinary; Mutation; PTEN protein; Science; Science (multidisciplinary); Telomeres; Therapeutic applications; Tumors; Yeast

Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter ( pTERT ) and utilizing the subsequent telomerase overexpression for telomere length maintenance. However, some rare cases show loss of ATRX and use alternative mechanism...