The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations.
Josephine Kam Tai K DermawanDavid H AbramsonSarah ChiangMartee L HensleyWilliam D TapSujana MovvaRobert G MakiDiana L MandelkerCristina R AntonescuPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
While ULMS patients had a relatively low proportion of PGV, a high percentage of STLMS patients with PGV had tumor biallelic status, indicating that PGV drive tumorigenesis in these individuals. These findings have significant implications for genetic testing recommendations.