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Prognostic biomarkers for survival in mucosal melanoma
Authors:Julia C. Thierauf  Stefan T. Kaluziak  Elizabeth Codd  Stacy N. Dybel  Soma Jobbagy  Rashi Purohit  Alex A. Farahani  Aikaterini Dedeilia  Vivek Naranbhai  Mai P. Hoang  Adam S. Fisch  Lauren Ritterhouse  Genevieve M. Boland  Jochen K. Lennerz  A. John Iafrate
Affiliation:1. Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA;2. Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA

Marine Science Center, Northeastern University, Nahant, Massachusetts, USA;3. Department of Pathology, Center for Integrated Diagnostics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA;4. Massachusetts General Hospital Cancer Center, Boston, Massachusetts, USA;5. Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA

Center for the AIDS Programme of Research in South Africa, Durban, South Africa

Massachusetts General Hospital Cancer Center, Boston, Massachusetts, USA

Dana-Farber Cancer Institute, Boston, Massachusetts, USA

Abstract:Mucosal melanoma (MM) is a rare subtype of melanoma with an aggressive clinical course. In cutaneous melanoma (CM), the absence of pigmentation and presence of NRAS/KRAS mutations are biomarkers indicating an aggressive clinical course with shorter overall survival. Similar data for MM are missing. We present the real-world outcome data in a cohort of genotyped MM patients and assessed the prognostic relevance of pigmentation- and NRAS/KRAS mutation status. We correlated pathological reports and clinical data with overall survival of patients with MM. Furthermore, we performed clinically integrated molecular genotyping and analyzed real world treatment regimens for covariates associated with clinical outcome. We identified 39 patients with available clinical and molecular data. Patients with amelanotic MM had a significantly shorter overall survival (p = .003). In addition, the presence of a NRAS or KRAS mutation was significantly associated with poor overall survival (NRAS or KRAS p = .024). Currently, it is unknown if the same prognostic relevance for the lack of pigmentation and RAS mutations in CM, exists in MM. Here we analyzed a cohort of MM for outcome measures and determined that two known prognostic biomarkers for CM are in fact novel prognosticators for MM.
Keywords:genotyping  mucosal melanoma  pigmentation  prognostic biomarkers
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