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The Genetics of Melanoma: Diagnosis, Prognosis and Therapy


The mRNA vaccines developed expediently during the onset of the COVID-19 Pandemic exemplified the arrival of applied genetics to medicine and its endless possibilities.


Applied genetics were revolutionizing the approach to melanoma for sometime prior to the COVID years.


In recognition of May as Skin Cancer Awareness month, I would like to review melanoma diagnosis, prognosis and treatment in the construct of applied genetics.


According to the American Cancer Society, just under 100,000 new diagnoses of melanoma will be diagnosed this year. Melanoma is the deadliest form of skin cancer resulting in an estimated 7,650 deaths predicted this year.


Diagnosis: A non invasive tape test, called a pigmented lesion assay (PLA), collects mRNA and DNA markers present in 97% of all melanomas. It adds genetic insight to our clinical eyes when it comes to the necessity of a surgical biopsy.


In the common place scenario, where surgical biopsy is not ideal, the PLA helps refine the “when in doubt, cut it out” adage.


And because it just needs genetic changes in skin and not drastic clinical changes, melanomas diagnosed from a positive PLA, tend to be earlier stage disease, such as “in situ” AKA stage 0 which approaches 100% cure rates.


Prognosis: For those patients who do receive a melanoma stage 1 or up on biopsy, we can send their specimens for a genetic expression profile (GEP) that predicts aggressiveness and/or prognosis of an individual’s tumor.


A cancer diagnosis always brings trepidation and uncertainty. The GEP analysis test 31 genes in the tissue specimen that has already been collected. It provides risk stratification to low, intermediate and high.


The results can inform medical decision making for the patients when it comes to intensity of follow up, surveillance and referrals to specialists. While it does not replace conventional staging means such as lymph node biopsies, it does improve our prognostic abilities and gives patients some peace of mind when managing their melanoma follow up over the years to come.


Therapy: Melanoma was the first cancer to have the class of drugs known as the immuno oncology molecules developed. Prior to 2010, patient’s with advanced melanoma had limited options and prognosis.


And then in 2011, a couple of checkpoint inhibitors and targeted therapies were approved, paving the way for a revolution in advanced melanoma management.


Now a patient’s tumor can be typed for BRAF, MEK or c-kit mutations. Based on those findings, a combination of several medications are indicated. Upwards of 50%of patients with metastatic disease find durable disease clearance with these targeted regimens.


The bench scientists have your back when developing tools to diagnose, prognosticate and treat cancer.

May is Skin Cancer Awareness Month, the perfect time to schedule a skin check with a board certified dermatologist to get your back checked!

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