title: Perianal melanoma with a BRAF gene mutation in a young Portuguese Roma native.
abstract: A case of a young man diagnosed with perianal nodular melanoma with a gene mutation, accompanied by regional and pulmonary metastases on initial presentation, and later on with hepatic and bone involvement, is presented. The patient underwent wide local excision but was unresponsive to dacarbazine. Targeted therapy with vemurafenib had shown clinical improvement for a 5-month duration until he showed signs of disease progression. Just after the shift of adjuvant therapy to ipilimumab, he was diagnosed with multiple cerebral metastases that eventually led to his demise 6 months after initiation of vemurafenib, having had a 12-month survival period from the time of initial melanoma diagnosis.
authors.affiliation: Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: Jennifer
authors.identifier: http://orcid.org/0000-0003-0696-6423
authors.initials: J
authors.lastname: Tan
mesh_terms: D000328:Adult; D000694:Anal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D001932:Brain Neoplasms / Q000556:secondary; D017809:Fatal Outcome; D006801:Humans; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011174:Portugal / Q000208:ethnology; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D006178:Romani People
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf