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The Key to Diagnosing Melanoma May Be Hidden in Your Genes

Determining if a mole is cancerous can be a challenge, even for seasoned pathologists. This new gene expression profiling test can tell if a spot is cancerous with over 90% accuracy!”
— Aaron S. Farberg, MD
DALLAS, TEXAS, USA, November 17, 2020 / -- Melanoma, a potentially lethal type of skin cancer where the cells that give color to your skin grow out of control, affects nearly 200,000 Americans every year and over 7,000 lives are lost to it annually. However, if it is detected and detected early, melanomas can be easily cut out and the spot can be monitored closely without need for further invasive medical treatments or procedures. A new study published in SKIN, the Journal of Cutaneous Medicine has found a way to use the samples taken from suspicious skin spots to determine if they are melanoma or not using genetics to find the answer.

Aaron S. Farberg, MD, faculty at Baylor University Section of Dermatology and lead author on the study explained that this test analyzes 35 different genes in skin samples and, depending on activity level of these genes, can assist pathologists that specialize in skin diseases and Dermatologists in determining if the spot is a melanoma.

Dr. Farberg and colleagues obtained 1600 samples for pathology experts to independently look at under a microscope and selected 60 cases that were “difficult-to-diagnose”. These 60 cases were analyzed with the new 35-gene expression profile (35-GEP) test to determine which of these spots may or may not potentially be a melanoma. These 60 difficult-to-diagnose cases were then reviewed by 20 experts in the field of Dermatopathology and Dermatology. These expert participants were then asked how they would treat this hypothetical patient with and without the 35-GEP result.

The study found that using the 35-GEP test, experts were almost 4 times more likely to agree on a diagnosis and either say the sample was indeed melanoma or it was not, and confidence in diagnostic accuracy increased by over 51%. More importantly, these results helped Dermatologists formulate their treatments. Dermatologists were up to 76% more selective with their decision to not perform surgery if the tests results did not suggest a melanoma was present. On the other hand, if the test classified the spot as being concerning for melanoma, Dermatologists were more likely to surgically intervene to make sure the entirety of the potential melanoma is removed. Additionally, Dermatologists noted if the test came back concerning for melanoma, they would increase the frequency of follow up visits and be more likely to biopsy future suspicious spots.

According to the authors, adding this new test to the diagnostic armamentarium for melanoma could potentially streamline the healthcare system by more appropriately allocating services where they are needed, increasing diagnostic confidence and reducing patient anxiety. For these reasons, this breakthrough test has the potential to benefit patients and physicians alike.

SKIN: The Journal of Cutaneous Medicine® is a peer-reviewed online medical journal that is the official journal of The National Society for Cutaneous Medicine. The mission of SKIN is to provide an enhanced and accelerated route to disseminate new dermatologic knowledge for all aspects of cutaneous disease.

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(DOI: 10.25251/skin.4.6.4)

Aaron S. Farberg, MD
Section of Dermatology, Baylor University Medical Center
+1 214-820-2233