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Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma.
Broit, Natasa; Johansson, Peter A; Rodgers, Chloe B; Walpole, Sebastian T; Newell, Felicity; Hayward, Nicholas K; Pritchard, Antonia L.
Afiliación
  • Broit N; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Johansson PA; Faculty of Medicine, University of Queensland, Queensland, Australia.
  • Rodgers CB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Walpole ST; Department of Genetics and Immunology, University of the Highlands and Islands, Inverness, Scotland.
  • Newell F; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Hayward NK; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Pritchard AL; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Mol Cancer Res ; 19(6): 991-1004, 2021 06.
Article en En | MEDLINE | ID: mdl-33707307
Mucosal melanoma is a rare subtype of melanoma. To date, there has been no comprehensive systematic collation and statistical analysis of the aberrations and aggregated frequency of driver events across multiple studies. Published studies using whole genome, whole exome, targeted gene panel, or individual gene sequencing were identified. Datasets from these studies were collated to summarize mutations, structural variants, and regions of copy-number alteration. Studies using next-generation sequencing were divided into the "main" cohort (n = 173; fresh-frozen samples), "validation" cohort (n = 48; formalin-fixed, paraffin-embedded samples) and a second "validation" cohort comprised 104 tumors sequenced using a targeted panel. Studies assessing mutations in BRAF, KIT, and NRAS were summarized to assess hotspot mutations. Statistical analysis of the main cohort variant data revealed KIT, NF1, BRAF, NRAS, SF3B1, and SPRED1 as significantly mutated genes. ATRX and SF3B1 mutations occurred more commonly in lower anatomy melanomas and CTNNB1 in the upper anatomy. NF1, PTEN, CDKN2A, SPRED1, ATM, CHEK2, and ARID1B were commonly affected by chromosomal copy loss, while TERT, KIT, BRAF, YAP1, CDK4, CCND1, GAB2, MDM2, SKP2, and MITF were commonly amplified. Further notable genomic alterations occurring at lower frequencies indicated commonality of signaling networks in tumorigenesis, including MAPK, PI3K, Notch, Wnt/ß-catenin, cell cycle, DNA repair, and telomere maintenance pathways. This analysis identified genomic aberrations that provide some insight to the way in which specific pathways may be disrupted. IMPLICATIONS: Our analysis has shown that mucosal melanomas have a diverse range of genomic alterations in several biological pathways. VISUAL OVERVIEW: http://mcr.aacrjournals.org/content/molcanres/19/6/991/F1.large.jpg.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Genómica / Variaciones en el Número de Copia de ADN / Melanoma / Mutación Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Mol Cancer Res Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Biomarcadores de Tumor / Genómica / Variaciones en el Número de Copia de ADN / Melanoma / Mutación Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Mol Cancer Res Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos