Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype
| Autor: | Ketty Peris, Laura Del Regno, Gianluca Cipolloni, Maria Giovanna Maturo, Maria Concetta Fargnoli, Lucia Di Nardo, Claudia Martorelli, Cristina Pellegrini, Sara Strafella, Ambra Antonini, Tamara Micantonio, Marina De Padova, Pietro Leocata |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Neuroblastoma RAS viral oncogene homolog Genetic heterogeneity Melanoma Biology medicine.disease Germline Pathology and Forensic Medicine 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis DNA Mutational Analysis Genotype Cancer research medicine Molecular Medicine Immunohistochemistry neoplasms Gene |
| Zdroj: | The Journal of Molecular Diagnostics. 20:110-122 |
| ISSN: | 1525-1578 |
| Popis: | 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 in 97 melanomas of 44 MPM patients and compared molecular and immunohistochemical findings. We further evaluated the association of somatic alterations with the germline MC1R genotype. Mutations in 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). Distribution of BRAF mutations did not differ across multiple melanomas (P = 0.85), whereas TERT promoter changes decreased from first to subsequent melanomas (P = 0.04). Intrapatient discrepancy of BRAF mutations among multiple tumors was detected in 14 of 44 MPM patients (32%) and of BRAF/NRAS/TERT promoter genes in 20 of 44 (45%). We observed a high rate of agreement between allele-specific TaqMan assay and immunohistochemistry in BRAFV600E detection (κ = 0.83, P |
| Databáze: | OpenAIRE |
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