Malignant Melanoma

Synonyms: -

Material:

FFPE tissue sections

TAT:

varies depending on the analysis

Method:

NGS

Overview

Melanoma is a malignant tumour arising from melanocytes. Cutaneous melanomas arising in skin with some degree of cumulative sun damage typically harbour a high number of mutations and those tumours rank among the most highly mutated cancers overall. Melanoma of the skin accounted for an estimated 337,969 new cases and 58,398 deaths worldwide in 2024 and ranked seventeenth for incidence in the GLOBOCAN cancer site ranking.

Clinical background and relevance

Molecular characterisation of melanoma is performed on tumour tissue and is clinically relevant because it identifies actionable genomic alterations that may guide adjuvant, neoadjuvant or systemic treatment. Testing is routinely recommended when treatment decisions may depend on molecular findings. Consequently, testing is routinely performed in patients with stage III or stage IV melanoma and should be considered in stage IIB-IIC disease, whereas routine testing is generally not recommended in stage I or most stage IIA melanomas unless required for treatment selection or clinical trial participation. BRAF V600 mutation testing is considered the essential and highest-priority predictive biomarker assessment in advanced or high-risk melanoma, whereas other BRAF mutations may be included optionally. Additional testing for NRAS and KIT mutations may be considered, particularly when the results could inform clinical trial enrolment or targeted treatment strategies in selected patients. Rearrangements or fusions of NTRK1/2/3, ALK, ROS1 or BRAF are uncommon in melanomas, but gene fusion-directed therapies exist. BRAF V600, NRAS and KIT mutations as well as gene fusions are determined by sequencing of the tumour material. Both analyses may be carried out by next-generation sequencing from DNA, gene fusions however are most sensitively detected using RNA-based NGS assays. Mutational landscapes differ between the main melanoma subtypes.

Table 1: Molecular characterisation of malignant melanoma

Molecular finding	Status in the molecular characterisation of melanoma	Contributing analysis
BRAF V600 mutation	Testing is mandatory	Sequencing
Other BRAF mutations	Testing is optional	Sequencing
NRAS mutation	Testing can be offered	Sequencing
KIT mutation	Testing can be offered	Sequencing
NTRK1, NTRK2 or NTRK3 rearrangement	Testing is recommended in the absence of a BRAF or RAS mutation	Fusion gene analysis
ALK, BRAF or ROS1 rearrangement	Testing can be useful in certain circumstances	Fusion gene analysis

Available tests

The analyses listed below can be requested individually or as a combined molecular analysis. The selected test should be based on histotype, disease setting, previous biomarker results, available tissue, and the clinical question. The assays described here represent a focused set of biomarkers and do not replace comprehensive biomarker profiling when broader testing is clinically indicated.

Single-method analysis	Panel	Gene scope	Purpose
Sequencing	Panel00713	BRAF, KIT, NRAS	BRAF V600 status and KIT and NRAS mutation status of the tumour
Fusion gene analysis	Panel00711	ALK, BRAF, NTRK1, NTRK2, NTRK3, ROS1	Identification of a gene fusion in the tumour, including NTRK gene fusions and BRAF rearrangements

Combined analysis	Panel	Gene scope
Targeted analysis	Panel00537	BRAF, KIT, NRAS, ALK, NTRK1, NTRK2, NTRK3, ROS1

Depending on the clinical setting, additional biomarkers not included in the focused panels may be required. These additional analyses on tumour tissue are also available (see Panel 00617 – ).

Therapy

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

Get in touch with us

Our team of experts is here to support you at every stage.

Your role *

Please select the option that best describes you.

FIRST NAME *

Please enter your first name.

LAST NAME *

Please enter your last name.

PHONE

Providing your phone number is optional and helps us contact you more quickly if needed.

EMAIL ADDRESS *

Please enter a valid email address

Country *

Please provide your country of residence. This information is required to route your request to the appropriate sales representative based on your location.

ORGANISATION / INSTITUTION

Please enter your organisation / institution

MESSAGE / ADDITIONAL NOTES

Please do not enter sensitive health data or special categories of personal data here. If you need to share such information, please use a secure, separate communication channel, such as encrypted email, a protected patient portal or a confidential phone call.

Your data will be used solely for processing your inquiry. For more information on how we handle your personal data and your rights, please refer to our .