Identification of vital genes and pathways associated with mucosal melanoma in Chinese

Ann Diagn Pathol. 2021 Feb:50:151648. doi: 10.1016/j.anndiagpath.2020.151648. Epub 2020 Nov 10.

Abstract

Mucosal melanoma is a rare malignant melanoma with more aggressive and poorer outcomes. The incidence of mucosal melanoma varies greatly among different ethnic groups. We herein sought to characterize the vital genes and pathways of Chinese mucosal melanoma patients. By whole-exome sequencing in six patients with mucosal melanoma, we detected a total of 21,733 CNVs and 2372 SNPs. The CNV/SNP burden varies greatly between individuals, including recurrent CNV targeting PIK3 family, KRAS, APC and BRCA1. Significantly mutated genes were NUDT5, ZBTB18, NEURL4, ZNF430, RBM44, GAK, PCDHA13, STK38 and UBR5. Besides, FAT1 gene was identified frequently mutated in anorectal melanoma patients (3/3, 100%). Moreover, our result showed that HPV infection may be associated with mucosal melanoma. In conclusion, this study indicated that mucosal melanomas have a low SNPs burden and a high number of CNVs and expand the spectrum of mucosal melanoma variants, also provided an insight for the pathological mechanism of mucosal melanoma.

Keywords: FAT1; HPV infection; Mucosal melanoma; Whole-exome sequencing.

MeSH terms

  • Asian People / genetics
  • Cadherins / genetics
  • DNA Copy Number Variations / genetics*
  • Exome Sequencing / methods
  • Female
  • Humans
  • Incidence
  • Male
  • Melanoma / diagnosis
  • Melanoma / epidemiology
  • Melanoma / genetics
  • Melanoma / pathology*
  • Melanoma, Cutaneous Malignant
  • Middle Aged
  • Mucous Membrane / pathology*
  • Mutation
  • Papillomaviridae / isolation & purification
  • Papillomavirus Infections / complications
  • Polymorphism, Single Nucleotide / genetics*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / genetics*

Substances

  • Cadherins
  • FAT1 protein, human