Cutaneous MelanomaRSS

Last Updated: August 26, 2015

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What is melanoma?

Melanoma is a cancer in the type of skin cells called melanocytes.  Melanocyes are the cells that produce melanin, which colors the skin. When exposed to sun, these cells make more melanin which causes the skin to darken or tan. Melanoma can occur anywhere on the body and risk factors include fair complexion, family history of melanoma, and being exposed to natural or artificial sunlight over long periods of time. Melanoma is most often discovered because it has metastasized, or spread, to another organ, such as the lymph nodes. In many cases, the skin melanoma site is never found. Because of this challenge, TCGA is studying primarily metastatic cases. In other cancers selected for study by TCGA, metastatic cases are excluded. For 2011, it was estimated that there were 70,230 new cases of melanoma and 8,790 deaths from it1. View additional information on melanoma.

What have The Cancer Genome Atlas (TCGA) researchers learned about melanoma?

TCGA researchers have:

  • Established four subtypes of cutaneous melanoma, BRAF mutant, RAS mutant, NF1 mutant, and Triple Wild-Type
      • Mutations in each of the identified driver genes, BRAF, RAS, and NF1, contribute to deregulation of the MAPK/ERK pathway, leading to uncontrolled cell growth
      • The most common subtype found was the BRAF subtype with 52 percent of cutaneous melanoma tumors harboring BRAF somatic mutations
  • Identified distinct molecular profiles of cutaneous melanoma that may help clinicians improve diagnosis and treatment
      • Tumors of Triple Wild-Type patients often contained mutations in receptor tyrosine kinases that may be responsive to receptor tyrosine kinase inhibitors
      • RAS and NF1 mutant melanomas have deregulated MEK signaling, indicating that these subtypes may be responsive to MEK inhibitors
      • RAS, NF1, and Triple Wild-Type cancers all demonstrated overexpression of AKT3, a protein kinase that affects MEK and mTOR signaling pathways, suggesting that MEK and PI3K/AKT/mTOR pathway inhibitors could target this molecular alteration
  • Confirmed that the immune system plays a role in cutaneous melanoma
      • Patients with metastatic melanoma with greater numbers of immune cells infiltrating tumors in the lymph nodes and enhanced T-cell signaling experienced better outcomes

See more about TCGA's study on melanoma

Where can I find more information about the TCGA Research Network’s studies or studies using TCGA data?

View a list of TCGA scientific publications.

Where can I find clinical trials to treat melanoma that are supported by the National Cancer Institute (NCI)?

View a list of NCI-supported melanoma clinical trials that are now accepting patients.

Selected References

1 American Cancer Society: Cancer Facts and Figures 2011. Atlanta, GA: American Cancer Society, 2011.