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Rivista di Dermatologia e Malattie Sessualmente Trasmesse

Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
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Giornale Italiano di Dermatologia e Venereologia 2015 Oct 20

lingua: Inglese

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

Sanlorenzo M. 1, Ribero S. 1, Osella Abate S. 1, 2, Mariani S. 2, Strignano P. 3, Salizzoni M. 3, Savoia P. 1, Fierro M. T. 1, Quaglino P. 1

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


INTRODUCTION: 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.
CASE REPORT: 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.
DISCUSSION: 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.
CONCLUSIONS: PMME seem to show a specific pattern of genetic alterations suggesting that they could represent a distinct entity among mucosal melanomas.

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