{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T22:48:50Z","timestamp":1766011730003,"version":"3.48.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n This study investigates the mutational profile of the\n KIT<\/jats:italic>\n gene in primary and metastatic melanomas, highlighting the significance of genetic heterogeneity.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This research is a retrospective cohort that includes formalin\u2010fixed and paraffin\u2010embedded melanoma samples obtained from Hospital S\u00e3o Paulo, Brazil, between the years of 1996 and 2010. The research encompasses primary melanomas of the superficial spreading (SSM) and acral lentiginous (AL) subtypes and their metastases, using next\u2010generation sequencing to explore genetic heterogeneity.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Despite losing 57 samples due to quality issues, 27 samples from 20 patients were analyzed, revealing a nearly equal distribution between AL and SSM subtypes. Both histological subtypes revealed\n KIT<\/jats:italic>\n gene variants, including previously undescribed variants and polymorphisms, emphasizing the role of such mutations in melanoma pathogenesis and the potential for targeted therapies. Tumor heterogeneity was also observed in both histological subtypes.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The study underscores the complexity of melanoma, driven by diverse mutational landscapes within and across tumors and advocates for personalized treatment approaches based on detailed molecular profiling. Despite limitations like sample size, this research lays the groundwork for further investigation into melanoma's genetic intricacies and therapeutic vulnerabilities.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cup.14715","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T21:44:31Z","timestamp":1725399871000},"page":"42-47","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mutational profile of the\n KIT<\/i>\n gene and its heterogeneity in primary and metastatic melanomas"],"prefix":"10.1111","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4883-9190","authenticated-orcid":false,"given":"Jes\u00fas Jos\u00e9 Andr\u00e9","family":"Quintana Castillo","sequence":"first","affiliation":[{"name":"Departamento de Patologia Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilles","family":"Landman","sequence":"additional","affiliation":[{"name":"Departamento de Patologia Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6208-0179","authenticated-orcid":false,"given":"Mariana","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Departamento de Patologia Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Barcelos","sequence":"additional","affiliation":[{"name":"Departamento de Patologia Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2018.03.024"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djv381"},{"key":"e_1_2_8_4_1","unstructured":"ShonW FrishbergD GershenwaldJ et al.Protocol for the examination of excision specimens from patients with melanoma of the skin. 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