Patel, Snehal B.McCormack, ColinHodge, Jennelle C.2022-01-042022-01-042020Patel, S. B., McCormack, C., & Hodge, J. C. (2020). Non-fusion mutations in endometrial stromal sarcomas: What is the potential impact on tumourigenesis through cell cycle dysregulation? Journal of Clinical Pathology, 73(12), 830–835. https://doi.org/10.1136/jclinpath-2020-206432https://hdl.handle.net/1805/27258Targeted next-generation sequencing using the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 identified two significant point mutations in endometrial stromal sarcomas (ESS). Case 1 is a uterine mass from a quadragenarian woman with a karyotype lacking any known ESS rearrangements but demonstrated to have a CTNNB1-activating mutation (c.133T>C, p.[Ser45Pro]). Analysis of a uterine mass from case 2, a sexagenarian woman, revealed biallelic CDKN2A-inactivating mutations (c.172C>T, p.[Arg58Ter] and a deletion). Break-apart studies to identify YWHAE, JAZF1 and PHF1 rearrangements were negative in both tumours. We propose a model in which these point mutations may affect cell proliferation, converging at Wnt signalling and G1-S checkpoint control, that independently or in concert with a rare gene fusion result in ESS tumour development or progression.enPublisher Policyβ cateninCTNNB1p16Article