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Updated: Feb 8, 2026
11:18
Generation of Comprehensive Thoracic Oncology Database - Tool for Translational Research
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Comprehensive Genomic Profiling of Acral Melanoma: Insights From the AACR Project GENIE Database
Julia K Russolillo1, Alex Schaedler1, Beau Hsia2
1Creighton University School of Medicine, Omaha, NE.
The American Journal of Dermatopathology
|February 6, 2026
Summary
Acral melanoma (AM) genomics reveal common NRAS, BRAF, and KIT mutations. This study identifies key genomic alterations and demographic-specific patterns, guiding future targeted therapies for this aggressive skin cancer.
Area of Science:
- Oncology
- Genomics
- Dermatology
Background:
- Acral melanoma (AM) is a rare, aggressive skin cancer subtype.
- AM disproportionately affects individuals with darker skin tones and is often diagnosed at advanced stages.
- Limited genomic data exist for AM, hindering targeted therapy development.
Purpose of the Study:
- To conduct a comprehensive genomic analysis of acral melanoma.
- To identify common mutations, copy number alterations, and mutational patterns.
- To explore demographic and clinical correlations of genomic findings in AM.
Main Methods:
- Retrospective genomic analysis of 212 acral melanoma tumor samples.
- Evaluation of somatic mutations, copy number alterations, and mutational patterns.
- Analysis of co-occurrence, mutual exclusivity, and survival across demographic and clinical variables.
Main Results:
- NRAS, BRAF, and KIT were the most frequent mutations.
- CDKN2A/B deletions and CDK4/CCND1/TERT amplifications were recurrent.
- Demographic variations in mutation frequencies and exclusive NAB2 mutations in metastatic tumors were observed.
Conclusions:
- This study provides a comprehensive genomic landscape of acral melanoma.
- Recurrent alterations in MAPK and cell cycle pathways were identified.
- Findings support expanded molecular profiling for improved prognosis and targeted therapy in AM.
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