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New Blood Test Could Help Diagnose Recurrent Malignant Melanoma

New Blood Test Could Help Diagnose Recurrent Malignant Melanoma

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  • 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 from the NYU Langone Medical Center and its Perlmutter Cancer Center, along with Bio-Rad Laboratories, have come up with simple blood tests to diagnose recurrences of malignant melanoma (a dangerous skin cancer) early. Their research is being presented at the annual meeting of the American Association for Cancer Research in April 2017.

Malignant melanoma is a very aggressive form of skin cancer that arises from the melanocytes or the pigment-producing cells of the skin. Unlike other skin cancers that usually spread only locally, malignant melanoma quickly spreads to internal organs and can even cause death. Therefore, it is extremely important to diagnose the cancer at an early stage. An asymmetrical mole with irregular margins that is more than 6mm in diameter and increasing in size, and varies in color, should be tested for malignant melanoma.


Mutations in the BRAF or NRAS genes have been associated with malignant melanoma. They promote the growth of the cancer. Medications are available that specifically target cancers with the BRAF mutation.

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 :
  1. 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).

Source: Medindia

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