Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype

Data on somatic heterogeneity and germline –somatic interaction in multiple primary melanoma (MPM) patients are limited. We investigated the mutational status of BRAF, NRAS, and TERT promoter genes, the most common genetic alterations in melanoma, in 97 melanomas of 44 MPM patients and compared molecular and immunohistochemical findings. W e further evaluated the association of somatic alterations with the germline MC1R genotype. Mutations in the BRAF gene were identified in 41.2% (40/97) of melanomas, in NRAS in 2.1% (2/97), and in TERT promoter in 19.6% (19/97).

Source: Journal of Molecular Diagnostics - October 20, 2017 Category: Pathology Authors: Cristina Pellegrini, Lucia Di Nardo, Gianluca Cipolloni, Claudia Martorelli, Marina De Padova, Ambra Antonini, Maria Giovanna Maturo, Laura Del Regno, Sara Strafella, Tamara Micantonio, Pietro Leocata, Ketty Peris, Maria Concetta Fargnoli Tags: Regular article Source Type: research