Are TERT mutations associated with survival in melanoma?

The authors aimed to find out if the treatment outcome in melanoma patients is linked with presence and extent of mutations in a gene called TERT.

Melanoma is a type of cancer that starts in color-producing cells of the skin. Mutations (permanent change) in several genes are reported to be associated with melanoma; TERT gene is one of them. This gene is responsible for providing instructions to another protein called telomerase that protects aging cells from degrading/’breaking’.

In normal cells, the level of telomerase is very low. However, it is abnormally active in cancer cells, which divide and grow without control. Mutations in TERT gene could lead to overactive telomerase and rapid growth of cancer cells. Recent studies have identified frequent mutations in the TERT gene in melanoma. In one study of 70 melanoma patients, 51 (71%) patients were identified with TERT mutations. 

Tumor tissue from 410 melanoma patients was taken to identify TERT mutation status and whether it is associated with outcome in melanoma.

Of 410 patients, samples from 362 patients could  be tested successfully, out of which, 154 (43%) were identified to have TERT mutations.

The frequency of mutations was 48% in nonacral skin (parts other than acral skin: limbs, ears, fingers or nails), 50% in occult melanoma (unknown location of primary tumor), 19% in mucosal melanoma (melanoma occurring in respiratory, genital or other body passages) and 23% in acral skin. In nonacral melanoma, overall survival was 80 months in patients with TERT mutations compared to 291 months in patients without the mutations.

The authors concluded that TERT mutations were frequent in melanoma patients and the extent of frequency varied with the specific type of melanoma. Poor overall survival was found in nonacral melanoma with TERT mutations.