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Cutaneous melanoma in sun-exposed skin carries a high mutation burden and frequent BRAF V600 alterations. Acral, mucosal and uveal melanomas are biologically different, with lower mutation burdens and different driver alterations. In Indian populations acral melanoma is proportionally more common, so assumptions drawn from cutaneous melanoma literature do not transfer directly.
Also called Cutaneous melanoma, Acral melanoma, Mucosal melanoma, Uveal melanoma.
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Melanoma subtype is decided by where the melanoma arose, and that determines which alterations are likely, which matters especially in India where acral and mucosal melanoma are proportionally more common.
Cutaneous melanoma in sun-exposed skin carries a high mutation burden and frequent BRAF V600 alterations. Acral, mucosal and uveal melanomas are biologically different, with lower mutation burdens and different driver alterations. In Indian populations acral melanoma is proportionally more common, so assumptions drawn from cutaneous melanoma literature do not transfer directly.
01Before any molecular question
Usually established first: the anatomical site and subtype, Breslow thickness, ulceration, and stage including sentinel node status. Site is not a cosmetic detail: it predicts which molecular alterations are likely.
Usually already established
02
The divisions below are not labels. Each one changes what the treatment discussion is actually about.
Cutaneous melanoma in sun-exposed skin
High mutation burden, frequent BRAF V600 and NRAS alterations, and generally the most immunologically responsive.
Acral melanoma
Arising on palms, soles and nail beds. Lower mutation burden, less frequent BRAF V600, and more frequent KIT alterations and structural changes. Proportionally more common in Indian and other non-white populations.
Mucosal melanoma
Arising in mucosal surfaces. Distinct biology again, with KIT and NRAS alterations and a generally less favourable outlook.
Uveal melanoma
Arising in the eye. Entirely distinct, with GNAQ and GNA11 alterations, and with BAP1 status carrying strong prognostic weight.
Melanoma of unknown primary
Where nodal or visceral disease is found without an identified skin lesion.
03What is discussed
BRAF V600E and V600K are the most consequential alterations in cutaneous melanoma. NRAS alterations are the next most common. KIT alterations are enriched in acral and mucosal melanoma. NF1 loss defines a further group. Tumour mutational burden is typically very high in sun-exposed cutaneous melanoma and much lower in acral, mucosal and uveal disease. Uveal melanoma is driven by GNAQ and GNA11 alterations, with BAP1 loss strongly associated with metastatic risk, and it responds differently to the treatments used in cutaneous melanoma.
BRAF
V600E and V600K specifically. Tested in all advanced melanoma.
NRAS
The next most common driver in cutaneous melanoma.
KIT
Enriched in acral and mucosal melanoma. Exon-level detail matters.
NF1
Loss defines a distinct group.
TMB
Very high in sun-exposed cutaneous melanoma, much lower in acral and mucosal subtypes.
GNAQ and GNA11
Drivers in uveal melanoma. Not found in cutaneous disease.
BAP1
In uveal melanoma, strongly prognostic. Also raises a germline question.
This is not an exhaustive list, and which markers are relevant depends on the individual case. Not every marker listed is assessed in every patient.
04What is tested, and from what
BRAF testing is standard in advanced melanoma. Where BRAF V600 is absent, broader profiling including KIT and NRAS is discussed, particularly in acral and mucosal disease where KIT is more likely. Uveal melanoma has its own testing pathway focused on prognostic classification. Plasma testing is used in advanced disease, and melanoma generally sheds ctDNA well.
CDKN2A is the most established melanoma predisposition gene, and CDK4, BAP1, MITF and POT1 are also recognised. Multiple primary melanomas, young age, or a family history of melanoma with pancreatic cancer or mesothelioma are prompts. Germline BAP1 alteration links uveal melanoma, mesothelioma and renal cell carcinoma into a single recognisable pattern.
Cancer genetics and hereditary riskMelanoma sheds ctDNA relatively well, and plasma BRAF testing is used where tissue is unavailable. Serial ctDNA is under study for monitoring response and detecting relapse, and melanoma is one of the diseases where this application is best developed.
More on ctDNA monitoring05The timing question
Testing that arrives after the decision it was meant to inform has already been made is a common and avoidable problem. This is the sequence in which molecular information tends to become relevant.
06Take these to your team
When a decision is being made
Questions worth raising with a treating team.
At progression, recurrence or resistance
The molecular picture at diagnosis is not always the molecular picture later.
07What shapes eligibility
Eligibility is usually written around BRAF status, subtype and prior therapy. Acral, mucosal and uveal melanoma each have distinct trial landscapes, so naming the subtype precisely matters for matching.
| Term | What it means |
|---|---|
| Breslow thickness | How deep a melanoma has grown into the skin, measured in millimetres. A central prognostic measure. |
| Acral melanoma | Melanoma on palms, soles or under nails. Different biology from sun-exposed skin melanoma. |
| Uveal melanoma | Melanoma arising in the eye. A distinct disease with distinct drivers and treatments. |
| Sentinel node | The first lymph node a cancer would drain to. Sampling it helps establish stage. |
These are the services most often relevant to this cancer. Which of them applies is a clinical question, not an automatic one.
This entry is educational. It describes what is commonly discussed in this cancer, not what should happen for any individual. Which of it applies depends on the specific diagnosis, stage, prior treatment and the person themselves. Nothing here is a recommendation, and no list of biomarkers here is exhaustive. Decisions belong with a treating team who know the whole case.
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