Exploration of the mutational landscape of cutaneous leiomyoma confirms FH as a driver gene and identifies targeting purine metabolism as a potential therapeutic strategy.

• Tác giả: David J Adams, Elizabeth Anderson, Mark J Arends, Steven D Billings, Jacqueline M Boccacino, Thomas Brenn, Saamin Cheema, Nicolas de Saint Aubain, Martin Del Castillo Velasco-Herrera, Alastair Droop, Peter M Ferguson, Ingrid Ferreira, Derek Frew, Christian Frezza, Claire Hardy, Paul W Harms, David R A Jones, Carolin Mogler, Victoria Offord, Neil Rajan, Désirée Schatton, Marc Segarra-Mondejar, Louise van der Weyden, Ian Vermes, Kim Wong
• Ngôn ngữ: eng
• Ký hiệu phân loại: 070.194 Radio
• Thông tin xuất bản: England : The British journal of dermatology , 2025
• Bộ sưu tập: NCBI
• ID: 175045

Tóm tắt

To comprehensively explore the mutational landscape of cutaneous leiomyoma (cLM) and identify candidate driver events, we performed a retrospective, multi-institutional, whole-exome sequencing and RNA sequencing study. We confirmed that a large proportion of patients with cLM have germline