Mutational profiling in melanocytic tumors: multiple somatic mutations and clinical implications.
In this study, we analyzed multiple somatic mutations in 10 genes relevant in melanoma tumorigenesis and targeted therapies. Overall, 45% of the tumors showed mutations and, in particular, 33% had multiple mutations. Based on our results, we conclude that the assessment of mutation status of multiple genes, including CDKN2A, could provide a genetic profile that can be useful as a prognostic and therapeutic marker in melanocytic tumors.
Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'Sapienza' University of Rome, Rome, Italy.
Antonio Giovanni
AG
Richetta
Valentina
V
Silvestri
Simona
S
Giancristoforo
Piera
P
Rizzolo
Sara
S
D'Epiro
Veronica
V
Graziano
Carlo
C
Mattozzi
Anna Sara
AS
Navazio
Mario
M
Falchetti
Stefano
S
Calvieri
Laura
L
Ottini
D000091162:AMP-Activated Protein Kinase Kinases; D014408:Biomarkers, Tumor / Q000235:genetics; D004252:DNA Mutational Analysis; D020558:GTP Phosphohydrolases / Q000235:genetics; D019942:Genes, p16; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*
D014408:Biomarkers, Tumor; D008565:Membrane Proteins; D019009:Proto-Oncogene Proteins c-kit; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)