{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:43:47Z","timestamp":1790549027024,"version":"4.1.0"},"reference-count":64,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:00:00Z","timestamp":1728604800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/V000292\/1"],"award-info":[{"award-number":["MR\/V000292\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["220540\/Z\/20\/A"],"award-info":[{"award-number":["220540\/Z\/20\/A"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To better understand the molecular pathogenesis of cLMS, we comprehensively explored the mutational landscape of these rare tumours to identify candidate driver events.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this retrospective, multi-institutional study, we performed whole-exome sequencing and RNA sequencing in 38 cases of cLMS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>TP53 and RB1 were identified as significantly mutated and thus represent validated driver genes of cLMS. COSMIC mutational signatures SBS7a\/b and DBS1 were recurrent; thus, ultraviolet light exposure may be an aetiological factor driving cLMS. Analysis of significantly recurrent somatic copy number alterations, which represent candidate driver events, found focal (&amp;lt; 10 Mb) deletions encompassing TP53 and KDM6B, and amplifications encompassing ZMYM2, MYOCD, MAP2K4 and NCOR1. A larger (24 Mb) recurrent deletion encompassing CYLD was also identified as significant. Significantly recurrent broad copy number alterations, involving at least half of a chromosome arm, included deletions of 6p\/q, 10p\/q, 11q, 12q, 13q and 16p\/q, and amplification of 15q. Notably PTEN is located on 10q, RB1 on 13q and IGFR1 on 15q. Fusion gene analysis identified recurrent CRTC1\/CRTC3::MAML2 fusions, as well as many novel fusions in individual samples.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bjd\/ljae386","type":"journal-article","created":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T18:36:31Z","timestamp":1728671791000},"page":"335-343","source":"Crossref","is-referenced-by-count":12,"title":["Comprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma"],"prefix":"10.1093","volume":"192","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0645-1879","authenticated-orcid":false,"given":"Louise","family":"van der Weyden","sequence":"first","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5956-0211","authenticated-orcid":false,"given":"Martin","family":"Del Castillo Velasco-Herrera","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5297-2042","authenticated-orcid":false,"given":"Saamin","family":"Cheema","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Wong","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline M","family":"Boccacino","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Offord","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7695-7480","authenticated-orcid":false,"given":"Alastair","family":"Droop","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R A","family":"Jones","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Vermes","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Anderson","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hardy","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"de Saint Aubain","sequence":"additional","affiliation":[{"name":"Department of Pathology, Institut Jules Bordet, Universit\u00e9 Libre de Bruxelles , Brussels ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M","family":"Ferguson","sequence":"additional","affiliation":[{"name":"Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology , Sydney, NSW ,","place":["Australia"]},{"name":"Faculty of Medicine and Health, The University of Sydney , Sydney, NSW ,","place":["Australia"]},{"name":"Melanoma Institute Australia, The University of Sydney , Sydney, NSW ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily L","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Leeds Teaching Hospitals NHS Trust , Leeds ,","place":["UK"]},{"name":"Division of Pathology and Data Analytics, University of Leeds , Leeds ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Merchant","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Leeds Teaching Hospitals NHS Trust , Leeds ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Mogler","sequence":"additional","affiliation":[{"name":"Institute of Pathology, School of Medicine and Health, Technical 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Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic , Cleveland, OH ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul W","family":"Harms","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Dermatology, University of Michigan , Ann Arbor, MI ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Monteagudo","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Clinic Hospital, Valencia \u2013 INCLIVA Biomedical Research Institute , Valencia ,","place":["Spain"]},{"name":"Department of Pathology, University of Valencia , Valencia ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D","family":"Billings","sequence":"additional","affiliation":[{"name":"Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic , Cleveland, OH ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J","family":"Arends","sequence":"additional","affiliation":[{"name":"University of Edinburgh, Division of Pathology, Centre for Comparative Pathology, CRUK Edinburgh Centre, Institute of Genetics and Cancer, Western General Hospital , Edinburgh ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4321-5250","authenticated-orcid":false,"given":"Ingrid","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Brenn","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Dermatology, University of Michigan , Ann Arbor, MI 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