{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T01:56:17Z","timestamp":1790733377716,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T00:00:00Z","timestamp":1558656000000},"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":["J Cutan Pathol"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pigment\u2010synthesizing melanoma (PSM) describes a morphologically and genetically diverse group of melanomas. In contrast, pigmented epithelioid melanocytoma (PEM) encompasses a spectrum of indolent tumors now classified as borderline\/intermediate melanocytic tumors. Herein, we report a case of widely metastatic heavily pigmented epithelioid melanoma with fatal outcome in a 36\u2010year\u2010old woman. Next\u2010generation sequencing identified somatic (tumoral) mutations in <jats:italic>BRAF<\/jats:italic> V600E, <jats:italic>PTEN<\/jats:italic>, <jats:italic>NOTCH1<\/jats:italic>, and <jats:italic>ERBB3<\/jats:italic>. By contrast, <jats:italic>GNAQ<\/jats:italic> and <jats:italic>GNA11<\/jats:italic> were wild type. Prkar1\u03b1 and p16 expression were maintained. Identification of mutations in <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>ERBB3<\/jats:italic> may support the diagnosis of heavily pigmented epithelioid melanoma. In contrast, <jats:italic>PRKCA<\/jats:italic> fusion genes and <jats:italic>PRKAR1A<\/jats:italic> mutations support the diagnosis of PEM. Given the heterogeneity, potential overlap (loss of Prkar1\u03b1 expression), and evolving genetic profiles of these two distinct groups of tumors, careful appraisal of molecular profiles in the light of histomorphology and clinical history is necessary for distinction between PEM and PSMs including heavily pigmented epithelioid melanomas, with significant potential impact on prognosis and therapy.<\/jats:p>","DOI":"10.1111\/cup.13485","type":"journal-article","created":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T07:37:04Z","timestamp":1556264224000},"page":"613-618","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Distant metastasis due to heavily pigmented epithelioid melanoma with underlying <i>BRAF<\/i> V600E, <i>NOTCH1<\/i>, <i>ERBB3<\/i>, and <i>PTEN<\/i> 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