Radwa Sharaf, PhD, Foundation Medicine Inc, Cambridge, MA, provides an overview of an investigation into genomic determinant of high telomeric content beyond the canonical ATRX/DAXX alterations in sarcoma. 14277 samples across 80 sarcoma types were sequenced and the telomeric content determined. Genomic alterations associated with high telomeric content was explored. Telomeric content was significantly higher in ATRX-altered sarcomas, in concordance with previous studies. Alterations in 3 genes, RAD51B, GID4, and POT1, were identified to be enriched in sarcomas with high telomeric content. Specifically, alterations in RAD51B was associated with uterus leiomyosarcoma, GID4 in soft tissue sarcoma, and POT1 in angiosarcoma samples. Overall, the results suggest a role played by RAD51B, GID4, and POT1 in telomere elongation in sarcomas. This interview took place at the European Society for Medical Oncology (ESMO) 2022 Congress in Paris, France.
