Non-Fusion Mutations in Endometrial Stromal Sarcomas: What is the Potential Impact on Tumorigenesis through Cell Cycle Dysregulation?
dc.contributor.author | Patel, Snehal B. | |
dc.contributor.author | McCormack, Colin | |
dc.contributor.author | Hodge, Jennelle C. | |
dc.contributor.department | Medical and Molecular Genetics, School of Medicine | en_US |
dc.date.accessioned | 2022-01-04T21:18:41Z | |
dc.date.available | 2022-01-04T21:18:41Z | |
dc.date.issued | 2020 | |
dc.description.abstract | Targeted 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. | en_US |
dc.eprint.version | Author's manuscript | en_US |
dc.identifier.citation | Patel, 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-2020-206432 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/27258 | |
dc.language.iso | en | en_US |
dc.publisher | BMJ | en_US |
dc.relation.isversionof | 10.1136/jclinpath-2020-206432 | en_US |
dc.relation.journal | Journal of Clinical Pathology | en_US |
dc.rights | Publisher Policy | en_US |
dc.source | Author | en_US |
dc.subject | β catenin | en_US |
dc.subject | CTNNB1 | en_US |
dc.subject | p16 | en_US |
dc.title | Non-Fusion Mutations in Endometrial Stromal Sarcomas: What is the Potential Impact on Tumorigenesis through Cell Cycle Dysregulation? | en_US |
dc.type | Article | en_US |