Identification of vital genes and pathways associated with mucosal melanoma in Chinese.
Ann Diagn Pathol
; 50: 151648, 2021 Feb.
Article
en En
| MEDLINE
| ID: mdl-33189033
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
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Polimorfismo de Nucleótido Simple
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Variaciones en el Número de Copia de ADN
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Melanoma
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Membrana Mucosa
Tipo de estudio:
Diagnostic_studies
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Incidence_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Diagn Pathol
Asunto de la revista:
PATOLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China