Chromosome-arm-specific telomere length governs dual modes of structural genome evolution in IDH-mutant astrocytoma
Maryam JehangiriD, Kristen L. DruckeriD, Ayşe Gökçe KeşküşiD, T. Rhyker Ranallo-BenavideziD, Orléna BenamozigiD, Thomas KollmeyeriD, Terry C. BurnsiD, Caterina GianniniiD, Benjamin R. KippiD, Stephen James Murphy, Amber R. BridgemaniD, Jesse R. WalshiD, Ramanath Majumdar, Daniel H. LachanceiD, Jeanette E. Eckel‐PassowiD, Ofer ShoshaniiD, Mikhail KolmogoroviD, Robert Brian JenkinsiD, Floris P BartheliD
Abstract
IDH-mutant astrocytomas maintain telomeres through the alternative lengthening of telomeres (ALT) pathway, producing extreme inter-arm telomere length heterogeneity, yet how this heterogeneity shapes structural genome evolution remains unknown. Using Oxford Nanopore long-read sequencing of 20 IDH-mutant astrocytomas, we profiled structural variants (SVs), copy number variants, extrachromosomal DNA (ecDNA) and measured allele-specific telomere lengths from individual long reads. We identified pervasive complex rearrangements, including chromothripsis and foldback events consistent with breakage-fusion-bridge cycles, and widespread ecDNAs. SV breakpoints were enriched at telomeric and centromeric regions regardless of local telomere length, revealing constitutive structural fragility. Arm-level telomere length analysis uncovered a dual-mode model: arms with short telomeres preferentially harbored breakage-associated events, while arms with long ALT-maintained telomeres were enriched for ecDNA and amplification-associated events. These findings identify chromosome-arm-specific telomere length as a determinant of structural genome evolution in ALT-driven tumors.
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