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

Publication ,  Journal Article
Wróblewska, JP; Dias-Santagata, D; Ustaszewski, A; Wu, C-L; Fujimoto, M; Selim, MA; Biernat, W; Ryś, J; Marszalek, A; Hoang, MP
Published in: Cells
August 27, 2021

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.

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Published In

Cells

DOI

EISSN

2073-4409

Publication Date

August 27, 2021

Volume

10

Issue

9

Location

Switzerland

Related Subject Headings

  • Receptor, IGF Type 2
  • RNA Splicing Factors
  • Proto-Oncogene Proteins c-kit
  • Proto-Oncogene Proteins B-raf
  • Prognosis
  • Mutation
  • Membrane Proteins
  • Melanoma
  • Humans
  • High-Throughput Nucleotide Sequencing
 

Citation

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Wróblewska, J. P., Dias-Santagata, D., Ustaszewski, A., Wu, C.-L., Fujimoto, M., Selim, M. A., … Hoang, M. P. (2021). Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas. Cells, 10(9). https://doi.org/10.3390/cells10092216
Wróblewska, Joanna P., Dora Dias-Santagata, Adam Ustaszewski, Cheng-Lin Wu, Masakazu Fujimoto, M Angelica Selim, Wojciech Biernat, Janusz Ryś, Andrzej Marszalek, and Mai P. Hoang. “Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas.Cells 10, no. 9 (August 27, 2021). https://doi.org/10.3390/cells10092216.
Wróblewska JP, Dias-Santagata D, Ustaszewski A, Wu C-L, Fujimoto M, Selim MA, et al. Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas. Cells. 2021 Aug 27;10(9).
Wróblewska, Joanna P., et al. “Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas.Cells, vol. 10, no. 9, Aug. 2021. Pubmed, doi:10.3390/cells10092216.
Wróblewska JP, Dias-Santagata D, Ustaszewski A, Wu C-L, Fujimoto M, Selim MA, Biernat W, Ryś J, Marszalek A, Hoang MP. Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas. Cells. 2021 Aug 27;10(9).

Published In

Cells

DOI

EISSN

2073-4409

Publication Date

August 27, 2021

Volume

10

Issue

9

Location

Switzerland

Related Subject Headings

  • Receptor, IGF Type 2
  • RNA Splicing Factors
  • Proto-Oncogene Proteins c-kit
  • Proto-Oncogene Proteins B-raf
  • Prognosis
  • Mutation
  • Membrane Proteins
  • Melanoma
  • Humans
  • High-Throughput Nucleotide Sequencing