Comprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma
Our analysis of the largest number of cases of cLMS to date highlights the importance of large cohort sizes and exploration beyond small targeted gene panels when performing molecular analyses, as it allowed a comprehensive exploration of the mutational landscape of these tumours and identification of novel candidate driver events. It also uniquely afforded the opportunity to compare the molecular phenotype of cLMS with LMS of other tissue types, such as uterine and soft-tissue LMS. Given that molecular profiling has resulted in the development of novel targeted treatment approaches for uterine and soft-tissue LMS, our study now allows the same opportunities to become available for patients with cLMS.
Authors
- Claire Hardy
- Thomas Brenn (ORCID: https://orcid.org/0000-0002-0089-0352)
- Saamin Cheema (ORCID: https://orcid.org/0000-0002-5297-2042)
- Mark J. Arends (ORCID: https://orcid.org/0000-0002-6826-8770)
- Kim Ping Wong (ORCID: https://orcid.org/0000-0003-1072-6262)
- Ian Vermes
- Martin Del Castillo Velasco‐Herrera (ORCID: https://orcid.org/0000-0001-5956-0211)
- Louise van der Weyden (ORCID: https://orcid.org/0000-0002-0645-1879)
- Steven D. Billings (ORCID: https://orcid.org/0000-0002-2278-5908)
- Victoria Offord (ORCID: https://orcid.org/0000-0003-3104-317X)
- Carlos Couceiro Monteagudo (ORCID: https://orcid.org/0000-0002-9381-9976)
- Derek Frew (ORCID: https://orcid.org/0000-0002-0890-1415)
- Ingrid Ferreira (ORCID: https://orcid.org/0000-0002-4321-5250)
- Paul W. Harms (ORCID: https://orcid.org/0000-0002-0802-2883)
- Jacqueline Marcia Boccacino (ORCID: https://orcid.org/0000-0001-6813-5217)
- Nicolas de Saint Aubain
- Emily L. Clarke (ORCID: https://orcid.org/0000-0001-8772-8720)
- Peter M. Ferguson (ORCID: https://orcid.org/0000-0002-8335-0406)
- Carolin Mogler (ORCID: https://orcid.org/0000-0003-3400-7254)
- Alastair Droop (ORCID: https://orcid.org/0000-0001-7695-7480)
- David J. Adams (ORCID: https://orcid.org/0000-0001-9490-0306)
- Elizabeth Anderson
- William Merchant
- David R A Jones
Institutions
- The University of Sydney (AU)
- University of Leeds (GB)
- Cleveland Clinic (US)
- Université Libre de Bruxelles (BE)
- Universitat de València (ES)
- University of Michigan (US)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Prince Alfred Hospital (AU)
- Western General Hospital (GB)
- Institut Jules Bordet (BE)
- Wellcome Sanger Institute (GB)
- Edinburgh Cancer Research (GB)
- Melanoma Institute Australia (AU)
- INCLIVA Health Research Institute (ES)
- Technical University of Munich (DE)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1093/bjd/ljae386
- Citations
- 6
- Primary Topic
- Sarcoma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.51
Funders
- Wellcome Trust
- National Institutes of Health
- Medical Research Council
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health
- NIH Office of the Director
- National Cancer Institute
- Common Fund