Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas.

Journal Article (Journal Article)

BACKGROUND: The prognostic value of commonly recurrent mutations remains unclear in mucosal melanomas. METHODS: Clinicopathologic parameters of 214 cases of mucosal melanomas diagnosed in 1989-2020 in several clinical institutions were analyzed. NRAS, KIT, BRAF, IGF2R and SF3B1 mutational analyses by Sanger sequencing and next generation sequencing-based assay were performed in a subset of cases. RESULTS: Of the triple (BRAF, NRAS, NF1)-negative cases, APC, KIT and KRAS are detected mainly in sinonasal, vulvovaginal and anorectal melanomas, respectively. NRAS, KIT, BRAF, IGF2R and SF3B1 mutations are detected in 19% (37/198), 22% (44/197), 12% (25/201), 16% (22/138) and 15% (20/133) of cases, respectively. In univariate analyses, advanced stage (p = 0.016), 65 years or older (p = 0.048) and presence of ulceration (p = 0.027) are significantly correlated with worse overall survival (OS), respectively. NRAS mutation significantly correlates with worse OS (p = 0.028) and worse melanoma-specific survival (MSS) (p = 0.03) for all cases of mucosal melanomas. In multivariate analyses, NRAS mutation remains as an independent predictor of worse OS (p = 0.036) and worse MSS (p = 0.024). CONCLUSION: NRAS mutation is a predictor of worse survival, independent of stage in mucosal melanomas. The significance of frequently mutated IGF2R in mucosal melanomas remains unclear.

Full Text

Duke Authors

Cited Authors

  • Wróblewska, JP; Dias-Santagata, D; Ustaszewski, A; Wu, C-L; Fujimoto, M; Selim, MA; Biernat, W; Ryś, J; Marszalek, A; Hoang, MP

Published Date

  • August 27, 2021

Published In

Volume / Issue

  • 10 / 9

PubMed ID

  • 34571863

Pubmed Central ID

  • PMC8468625

Electronic International Standard Serial Number (EISSN)

  • 2073-4409

Digital Object Identifier (DOI)

  • 10.3390/cells10092216


  • eng

Conference Location

  • Switzerland