Journal
PIGMENT CELL & MELANOMA RESEARCH
Volume 35, Issue 3, Pages 369-386Publisher
WILEY
DOI: 10.1111/pcmr.13034
Keywords
acral melanoma; genomics; meta-analysis; systematic review
Categories
Funding
- Australian Government Research Training Program (RTP) Fee-Offset Scholarship through the University of Queensland
- Lynette Wei Hung Wo PhD Top-Up Scholarship
- National Health and Medical Research Council of Australia
- European Social Fund
- Highlands Islands Enterprise [HMS9353763]
- American Association for Cancer Research
- QIMR Berghofer higher degree candidate scholarship
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The study conducted a comprehensive systematic meta-analysis of genomic aberrations in acral melanoma (AM). It identified significantly mutated genes and frequent copy-number aberrations, highlighting potential therapeutic targets.
Acral melanoma (AM) tumors arise on the palms, soles, fingers, toes, and nailbeds. A comprehensive systematic meta-analysis of AM genomic aberrations has not been conducted to date. A literature review was carried out to identify studies sequencing AM. Whole-genome/exome data from 181 samples were identified. Targeted panel sequencing data from MSK-IMPACT were included as a validation cohort (n = 92), and studies using targeted hot spot sequencing were also collated for BRAF (n = 26 studies), NRAS (n = 21), and KIT (n = 32). Statistical analysis indicated BRAF, NRAS, PTEN, TYRP1, and KIT as significantly mutated genes. Frequent copy-number aberrations were also found for important cancer genes, such as CDKN2A, KIT, MDM2, CCND1, CDK4, and PAK1, among others. Mapping genomic alterations within the context of the hallmarks of cancer identified four components frequently altered, including (i) sustained proliferative signaling and (ii) evading growth suppression, (iii) genome instability and mutation, and (iv) enabling replicative immortality. This analysis provides the largest analysis of genomic aberrations in AM in the literature to date and highlights pathways that may be therapeutically targetable.
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