- Patients with malignant melanoma often experience recurrences which warrant change in treatment
- A simple blood test that detects mutations in a gene that encodes for the TERT protein can detect recurrences in those individuals that do not have the BRAF or NRAS genes
- The test is currently being used for research purposes, and is not yet available for patients
Researchers have found simple blood tests that can diagnose the recurrence of malignant melanoma in its early stages, even in those patients who do not have defects in the BRAF or NRAS genes. The new tests detect mutations in the circulating tumor DNA (ctDNA), the genetic material that has been released into the blood by the cancer cells. They specifically test for two mutations, C228T and C250T, in a gene that controls a protein called telomerase reverse transcriptase (TERT), which promotes the multiplication of the cancer cells. The researchers could detect even 1 percent of mutated ctDNA in a typical blood plasma sample of 5 milliliters, thus highlighting the sensitivity of the test.
The new tests have several advantages. The results of the tests can be made available as early as within 48 hours. They also avoid the need for repeated radiological tests like CT scans, which are not only expensive, but also expose the patient to radiation.
Currently, the tests are only available for research purposes. If approved for use in patients, they could save quite a few lives affected by malignant melanoma. They could help doctors understand when the treatment being administered stops working and needs to be changed. The test could also find application in the detection of other cancers that have TERT mutations including brain cancer.
Reference:
- Corless B et al. Detection of TERT C228T and C250T promoter mutations in melanoma tumor and plasma samples using novel mutation-specific droplet digital PCR assays. For presentation at the annual meeting of the American Association for Cancer Research (2017).