Intra-patient heterogeneity of BRAF and NRAS molecular alterations in primary melanoma and metastases

Lucia Di Nardo, Cristina Pellegrini, Ludovica Cardelli, Marina De Padova, Valeria Ciciarell, Tea Rocco, Gianluca Cipolloni, Marco Clementi, Alessio Cortellini, Alessandra Ventura, Pietro Leocata, Maria Concetta Fargnoli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

5 Citazioni (Scopus)

Abstract

Mutations in MAPK signalling genes are driver events in melanoma, and have therapeutic relevance in the metastatic and adjuvant setting. This study evaluated the intra-patient heterogeneity of BRAF, NRAS and c-KIT mutational status between 30 primary melanomas and 39 related metastases, using molecular analysis and immunohistochemistry. BRAF mutations were identified in 46.7% of primary melanomas and 48.7% of metastases and NRAS mutations in 20% and 25.6%, respectively. Intra-patient heterogeneity was detected in 13.3% of patients for both BRAF and NRAS genes and was not associated with clinico-pathological characteristics of melanomas or metastases. High consistency was observed between immunostaining and molecular methods for BRAFV600E (k = 0.90; p < 0.001) and NRASQ61R (k = 0.87; p < 0.001). These findings demonstrate a relevant intra-patient heterogeneity between primary and metastatic lesions that is independent of clinical variables and methodological approach.
Lingua originaleEnglish
pagine (da-a)adv00040-8
RivistaActa Dermato-Venereologica
Volume100
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Adult
  • Aged
  • Aged, 80 and over
  • BRAF
  • Biomarkers, Tumor
  • C-KIT
  • DNA Mutational Analysis
  • Female
  • GTP Phosphohydrolases
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease
  • Heterogeneity
  • Humans
  • Male
  • Melanoma
  • Membrane Proteins
  • Metastases
  • Middle Aged
  • Mutation
  • NRAS
  • Phenotype
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins c-kit
  • Skin Neoplasms

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