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Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014
Online ISSN 1827-1820
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.