Genomic copy number burden distinguishes the diagnosis and prognosis of primary dermal melanoma
We found that CNVs were the strongest discriminative features between PDMs and non-epidermal cutaneous metastases, with large-scale and focal CNVs abundant in metastases but not in PDMs. Notably, integrating BRAF copy number analysis with standard clinical criteria for diagnosing PDMs improved risk stratification after surgery. These data highlight the ability of panel-based genomic sequencing that enables detection of CNVs to inform clinical management of melanoma.
Authors
- Farhad Goodarzy (ORCID: https://orcid.org/0000-0003-4845-459X)
- Nikki R. Adler (ORCID: https://orcid.org/0000-0002-7972-9050)
- Miles C. Andrews (ORCID: https://orcid.org/0000-0003-1231-8641)
- Christopher Chew (ORCID: https://orcid.org/0000-0002-2766-9607)
- Pacman Szeto (ORCID: https://orcid.org/0000-0002-6159-9913)
- William L. Berry (ORCID: https://orcid.org/0000-0002-1661-5443)
- Peinan Zhao (ORCID: https://orcid.org/0000-0002-9716-3441)
- Victoria Mar (ORCID: https://orcid.org/0000-0001-9423-3435)
- Catriona McLean (ORCID: https://orcid.org/0000-0002-0302-5727)
- Anthony T. Papenfuss (ORCID: https://orcid.org/0000-0002-1102-8506)
- Mark Shackleton (ORCID: https://orcid.org/0000-0002-7673-4655)
- Vikki M. Marshall (ORCID: https://orcid.org/0000-0001-8508-0043)
- Jen G. Cheung
- Nicholas C. Wong (ORCID: https://orcid.org/0000-0003-4393-7541)
- Andrew Dinan
- Louise Photiou (ORCID: https://orcid.org/0000-0002-9441-3943)
Institutions
- The University of Melbourne (AU)
- Walter and Eliza Hall Institute of Medical Research (AU)
- The Alfred Hospital (AU)
- Melbourne Bioinformatics (AU)
- Monash Alfred Psychiatry Research centre (AU)
- Alfred Health (AU)
- Monash University (AU)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1093/bjd/ljaf507
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Melanoma Research Alliance
- Australian Government
- Monash University
- Medical Research Council
- National Health and Medical Research Council