TERT gene rearrangement in chordomas and comparison to other TERT-rearranged solid tumors

Chordomas are rare, slow-growing neoplasms thought to arise from the foetal notochord remnant. A limited number of studies that examined the mutational profiles in chordomas identified potential driver mutations, including duplication in the TBXT gene (encoding brachyury), mutations in the PI3K/Akt signaling pathway, and loss of the CDKN2A gene. Most chordomas remain without clear driver mutations, and no fusion genes have been identified thus far. We discovered a novel TERT in-frame fusion involving RPH3AL (exon 5) and TERT (exon 2) in the index chordoma case.

Source: Cancer Genetics and Cytogenetics - September 18, 2021 Category: Genetics & Stem Cells Authors: Ju- Yoon, Wei Jiang, Christopher R. Orr, Chase Rushton, Stacey Gargano, Sharon J. Song, Mitul Modi, Bryan Hozack, John Abraham, Atrayee Basu Mallick, John S.J. Brooks, Jason N. Rosenbaum, Paul J. Zhang Source Type: research