Article
Comprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.
The British journal of dermatology - 24 Jan 2025
van der Weyden Louise, Del Castillo Velasco-Herrera Martin, Cheema Saamin, Wong Kim, Boccacino Jacqueline M, Offord Victoria, Droop Alastair, Jones David R A, Vermes Ian, Anderson Elizabeth, Hardy Claire, de Saint Aubain Nicolas, Ferguson Peter M, Clarke Emily L, Merchant William, Mogler Carolin, Frew Derek, Harms Paul W, Monteagudo Carlos, Billings Steven D, Arends Mark J, Ferreira Ingrid, Brenn Thomas, Adams David J
Abstract excerpt
BACKGROUND: Cutaneous leiomyosarcoma (cLMS) is a rare soft-tissue neoplasm, showing smooth muscle differentiation, that arises from the mesenchymal cells of the dermis. To date, genetic investigation of these tumours has involved studies with small sample sizes and limited analyses that identified recurrent somatic mutations in RB1 and TP53, copy number gain of MYOCD and IGF1R, and copy number loss of PTEN....
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