{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:28:32Z","timestamp":1772558912800,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T00:00:00Z","timestamp":1687737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The histogenesis of the rare primary cutaneous epithelioid rhabdomyosarcoma (PCERMS) remains unclear, with the morphological and immunophenotypic appearance of a rhabdomyosarcoma but a genomic profile consistent with sarcomatoid undifferentiated malignant melanoma (SUMM). Here, we provide comprehensive clinical, histopathological, and genomic analysis of a putative PCERMS presenting in an elderly patient. Histopathologic examination revealed an ulcerative tumefactive lesion with diffuse replacement of the dermis by sheets of malignant epithelioid cells with a rhabdoid appearance. By immunohistochemistry, the tumor cells were strongly and diffusely positive for desmin and myogenin. Comprehensive genomic analysis with a 542 gene DNA\u2010based sequencing panel revealed likely biallelic <jats:italic>NF1<\/jats:italic> inactivation (mutation and deletion), <jats:italic>TERT<\/jats:italic> promoter mutation, and a high tumor mutation burden (&gt;100 mutations\/mB) with features of a UV\u2010mutational signature, which are all genomic features that can be seen in undifferentiated malignant melanoma. This case provides evidence of a close relationship at a molecular level between PCERMS and SUMM. Molecular genomic characterization of a larger cohort of PCERMS is warranted for further elucidation.<\/jats:p>","DOI":"10.1002\/gcc.23185","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T10:14:36Z","timestamp":1687774476000},"page":"678-684","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Comprehensive molecular profile of primary cutaneous epithelioid rhabdomyosarcoma: A tumor genomically and molecularly related to malignant melanoma"],"prefix":"10.1002","volume":"62","author":[{"given":"Saba","family":"Shafi","sequence":"first","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine The Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manan","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Hematology &amp; Oncology The Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine The Ohio State University Wexner Medical Center  Columbus Ohio USA"},{"name":"The James Comprehensive Cancer Center The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joal D.","family":"Beane","sequence":"additional","affiliation":[{"name":"The James Comprehensive Cancer Center The Ohio State University  Columbus Ohio USA"},{"name":"Divison of Surgical Oncology, Department of Surgery The Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Oghumu","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine The Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2012-1785","authenticated-orcid":false,"given":"O. 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Paper presented at: Seminars in Diagnostic Pathology.2021.","DOI":"10.1053\/j.semdp.2020.09.002"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ctrv.2020.102060"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000000716"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.4103\/0377-4929.162831"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12666"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0424-2"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.23185","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T12:17:47Z","timestamp":1695125867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.23185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,26]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/gcc.23185"],"URL":"https:\/\/doi.org\/10.1002\/gcc.23185","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,26]]},"assertion":[{"value":"2023-03-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}