A Case of Primary Gastric Melanoma Exhibiting a Rare BRAF V600R Mutation

Callaghan, Grainne and Kelleher, Fergal and Ridgway, Paul and Crowther, Stephen and Alakkari, Alaa and Ryan, Barbara (2017) A Case of Primary Gastric Melanoma Exhibiting a Rare BRAF V600R Mutation. European Journal of Case Reports in Internal Medicine, 5 (1). ISSN 2284-2594

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Introduction: Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at time of diagnosis and is associated with a dismal outcome.Background: A 76 year old gentleman presenteded with a one month history of fatigue and exertional dyspnoea. Laboratory investigations indicated an anaemia, with a haemoglobin level of 11.0g/dl. Subsequent gastroscopy visualised a large, atypical, crater-like ulcerated lesion distal to the cardia in the proximal stomach.Provisional histology was suggestive of a poorly differentiated adenocarcinoma but subsequent cyto-morphology and immunophenotyping were consistent with melanoma, with positive S100 protein, HMB45 and Melan A. Further molecular genetic testing revealed a V600R mutation in the BRAF gene, which is the first primary gastric melanoma with this mutation to be reported in the literature. Given the rarity of the findings, an extensive secondary work-up was undertaken, which concluded the diagnosis primary gastric melanoma.Discussion: Primary gastric melanoma is a rare disease that can present similarly to other upper gastrointesinal lesions, with weight loss, abdominal pain, malena, and anaemia. Given its rarity, the pathogenesis is poorly understood. Lesions are often endoscopically atypical. Important points to note would include the absence of a primary lesion, as supported by a full skin examination and PET-CT findings, which can help to delineate the limitation to the stomach, thus helping to inform subsequent management.

Item Type: Article
Uncontrolled Keywords: Gastric melanoma, malignant melanoma, BRAF
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User: Chiara D'Arpa
Date Deposited: 18 May 2018 14:23
Last Modified: 18 May 2018 14:23
URI: http://eprints.bice.rm.cnr.it/id/eprint/17774

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