{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T04:47:12Z","timestamp":1787806032786,"version":"build-2784847793"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T00:00:00Z","timestamp":1633651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucosal malignant melanoma (MMM) is a rare and aggressive tumor. Despite effective local therapies, tumor recurrence and metastasis remain frequent. The genetics of MMM remain incompletely understood. This study is aimed to identify actionable genetic alterations by next\u2010generation sequencing. Fifteen MMM samples were analyzed by next\u2010generation and Sanger sequencing. Gene copy number alterations were analyzed by MLPA. Mutation status was correlated with pERK, pAKT, and Ki\u201067 expression and follow\u2010up data. Inactivating mutations and intragenic deletions in neurofibromatosis type\u20101 (<jats:italic>NF1)<\/jats:italic> were identified in 3 and 2 cases, respectively, (in total 5\/15, 33%) and activating mutations in <jats:italic>NRAS<\/jats:italic> and <jats:italic>KRAS<\/jats:italic> (3\/15, 20%) cases. Other mutated genes included <jats:italic>CDKN2A, APC, ATM, MITF, FGFR1,<\/jats:italic> and <jats:italic>FGFR2<\/jats:italic>. <jats:italic>BRAF<\/jats:italic> and <jats:italic>KIT<\/jats:italic> mutations were not observed. Cases with <jats:italic>NF1<\/jats:italic> alterations tended to have worse overall survival. The mutational status was not associated with pERK, pAKT, or Ki\u201067 immunostaining. MMM carries frequent gene mutations activating the MAPK pathway, similar to cutaneous melanoma. In contrast, <jats:italic>NF1<\/jats:italic> is the most frequently affected gene. Intragenic <jats:italic>NF1<\/jats:italic> deletions have not been described before and may go undetected by sequencing studies. This finding is clinically relevant as <jats:italic>NF1<\/jats:italic>\u2010mutated melanomas have worse survival and could benefit from therapy with immune checkpoint and MEK inhibitors.<\/jats:p>","DOI":"10.1111\/pcmr.13015","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T19:00:54Z","timestamp":1632250854000},"page":"88-96","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Intragenic <i>NF1<\/i> deletions in sinonasal mucosal malignant melanoma"],"prefix":"10.1111","volume":"35","author":[{"given":"Cristina","family":"Riobello","sequence":"first","affiliation":[{"name":"Department Head and Neck Cancer Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA) Instituto Universitario de Oncolog\u00eda del Principado de Asturias (IUOPA) Centro de Investigaci\u00f3n Biom\u00e9dica en Red (CIBER\u2010ONC) Oviedo 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