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Giornale Italiano di Dermatologia e Venereologia 2020 October;155(5):680-2

DOI: 10.23736/S0392-0488.16.05174-9

Copyright © 2015 EDIZIONI MINERVA MEDICA

language: English

Genetic mutations in primary malignant melanoma of the esophagus: case report and literature review

Martina SANLORENZO 1 , Simone RIBERO 1, Simona OSELLA ABATE 1,2, Sara MARIANI 2, Paolo STRIGNANO 3, Mauro SALIZZONI 3, Paola SAVOIA 1, Maria T. FIERRO 1, Pietro QUAGLINO 1

1 Section of Dermatology, Department of Medical Sciences, University of Turin, Turin, Italy; 2 Section of Surgical Pathology, Department of Medical Sciences, University of Turin, Turin, Italy; 3 General Surgery and Liver Transplant Center, Città della Salute e della Scienza, Turin, Italy



The most frequent genetic aberrations in mucosal melanoma are activating mutations of c-KIT. Primary malignant melanomas of esophagus (PMME) are uncommon entities, with aggressive biological behavior and poor prognosis. The better definition of their genotype could improve therapeutic options. We report a case of a 66 years old man with a PMME in the lower third of the esophagus. Analysis of c-kit, KRAS, NRAS and BRAF genes resulted negative for mutations. On the basis of a computerized (PuMed/Medline) bibliography search we retrieved a total of other 35 cases of PMME analyzed for genetic alterations in RAS, BRAF, and KIT. When we compared mutations frequency of PMME with those of other mucosal melanomas, it appeared that PMME are characterized by a relative higher percentage of NRAS mutations. PMME seem to show a specific pattern of genetic alterations suggesting that they could represent a distinct entity among mucosal melanomas.


KEY WORDS: Melanoma; Esophagus; Mutations

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