{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:34:55Z","timestamp":1777876495931,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ther Adv Med Oncol"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Metastatic vulvar melanoma is a rare and aggressive disease and survival is usually poor. Vulvar melanomas harbor BRAF V600 mutations only infrequently; consequently, target therapy is a rare therapeutic option and immunotherapy usually has only a weak effect. On the other hand, KIT mutations are rare in cutaneous melanomas, but relatively frequent in mucosal melanomas, particularly in vulvar-vaginal melanomas, and can be a therapeutic target. Herein, we report a clinical case of a patient with metastatic vulvar melanoma, harboring an exon 17 c-KIT mutation, treated with avapritinib (BLU-285) \u2013 a highly potent and selective oral kinase inhibitor designed to treat imatinib-resistant gastro-intestinal stromal tumors (GIST) by targeting KIT\/PDGFR\u03b1 activation loop mutants (exons 17\/18). After failure of the combination of ipilimumab\u2004+\u2004nivolumab first and then nivolumab alone, the patient received avapritinib 300\u2009mg\/daily for central nervous system (CNS), lymph-nodal, right adrenal gland, lung, and subcutaneous metastases. Best response was partial remission, according to RECIST 1.1 criteria. Time to treatment progression was 11\u2009months. Main toxicities were grade\u20092 cutaneous vasculitis that required avapritinib discontinuation, and grade 2 uveitis of unknown origin, treated by vitrectomy and empiric antibiotic and antiviral therapy due to negative cultural tests. Uveitis was detected at the time of progression and therapy was definitively discontinued. In conclusion, avapritinib proved to be effective even in the presence of a pretreated disease, a high tumor burden, and brain metastases. In our experience, treatment was feasible and toxicity manageable. Considering the lack of effective therapies and the poor outcome of the disease, determination of c-KIT mutations should be performed routinely in cases of metastatic mucosal melanoma.<\/jats:p>","DOI":"10.1177\/1758835920946158","type":"journal-article","created":{"date-parts":[[2020,7,31]],"date-time":"2020-07-31T05:45:02Z","timestamp":1596174302000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["Successful treatment with avapritinib in patient with mucosal metastatic melanoma"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1184-6426","authenticated-orcid":false,"given":"Emilia","family":"Cocorocchio","sequence":"first","affiliation":[{"name":"Division of Medical Oncology of Melanoma, Soft Tissue Sarcoma and Rare Tumors, Istituto Europeo di Oncologia IRCCS, Via Giuseppe Ripamonti 435, Milano, 20141, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Pala","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology of Melanoma, Soft Tissue Sarcoma and Rare Tumors, Istituto Europeo di Oncologia IRCCS, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Conforti","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology of Melanoma, Soft Tissue Sarcoma and Rare Tumors, Istituto Europeo di Oncologia IRCCS, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Guerini-Rocco","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine Department, Istituto Europeo di Oncologia IRCCS, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommaso","family":"De Pas","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology of Melanoma, Soft Tissue Sarcoma and Rare Tumors, Istituto Europeo di Oncologia IRCCS, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier Francesco","family":"Ferrucci","sequence":"additional","affiliation":[{"name":"Department of Experimental Oncology, Istituto Europeo di Oncologia IRCCS, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,7,31]]},"reference":[{"key":"bibr1-1758835920946158","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2016.04.021"},{"key":"bibr2-1758835920946158","unstructured":"The National Board of Health and Welfare. The Swedish Cancer Registry: cancer incidence in Sweden. 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Avapritinib is highly active and well tolerated in patients with advanced GIST driven by a diverse variety of oncogenic mutations in KIT and PDGFRA. In: CTOS annual meeting, Rome, Italy. https:\/\/www.blueprintmedicines.com\/wp-content\/uploads\/2019\/01\/CTOS-Avapritinib-Update-Nov-2018.pdf. 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