The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients

Francesc Muyas, Manuel José Gómez Rodriguez, Rita Cascão, Angela Afonso, Carolin M. Sauer, Claudia C. Faria, Isidro Cortés-Ciriano () and Ignacio Flores ()
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Francesc Muyas: European Bioinformatics Institute, Hinxton
Manuel José Gómez Rodriguez: Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC)
Rita Cascão: Universidade de Lisboa
Angela Afonso: Universidade de Lisboa
Carolin M. Sauer: European Bioinformatics Institute, Hinxton
Claudia C. Faria: Universidade de Lisboa
Isidro Cortés-Ciriano: European Bioinformatics Institute, Hinxton
Ignacio Flores: Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC)

Nature Communications, 2024, vol. 15, issue 1, 1-14

Abstract: Abstract Telomere fusions (TFs) can trigger the accumulation of oncogenic alterations leading to malignant transformation and drug resistance. Despite their relevance in tumour evolution, our understanding of the patterns and consequences of TFs in human cancers remains limited. Here, we characterize the rates and spectrum of somatic TFs across >30 cancer types using whole-genome sequencing data. TFs are pervasive in human tumours with rates varying markedly across and within cancer types. In addition to end-to-end fusions, we find patterns of TFs that we mechanistically link to the activity of the alternative lengthening of telomeres (ALT) pathway. We show that TFs can be detected in the blood of cancer patients, which enables cancer detection with high specificity and sensitivity even for early-stage tumours and cancers of high unmet clinical need. Overall, we report a genomic footprint that enables characterization of the telomere maintenance mechanism of tumours and liquid biopsy analysis.

Date: 2024
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DOI: 10.1038/s41467-023-44287-8

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