There is considerable potential in diagnosing and treating melanoma in the future using molecular analysis, which may allow for its genetic decoding and personalization of treatment.

During Friday’s plenary session, at the 2012 American Academy of Dermatology Summer Meeting, Hensin Tsao, MD, PhD, presented the “Role of Molecular Analysis in Melanoma.”

In addition to traditional methods of monitoring high-risk patients, “molecular analysis of blood or tissue can identify each patient’s individual risk for melanoma,” stated Dr. Tsao. Mutations present in the P16 protein, BRCA1-associated protein-1 (BAP1 gene mutation), red-hair gene melanocortin 1 receptor (MC1R), micropthalmia-associated transcription factor (MITF) gene, and changes in tyrosinase can all be detected– any of which can signal an increased risk for melanoma.

Molecular analysis has also uncovered molecular grades in melanoma from high to low, indicating actual changes in the tumor itself. This will take diagnoses of melanomas to the next level, beyond the Breslow scale on melanoma thickness. It will improve the understanding of the complexities that define an aggressive tumor vs. a non-aggressive tumor and how the host interacts with that tumor.

Furthermore, molecular analysis could also reveal the organ from which the cancer originated, how the host factor is playing out, and whether the melanoma contains an immune signature inviting a welcomed immune response.

The genetic decoding of melanoma has led to the discovery of the v-raf murine sarcoma viral oncogene homolog B1 (the BRAF gene) which has led to targeted treatments. Zelboraf (vemurafenib tablets; Genentech) is the first anti-BRAF treatment that has been successful in treating metastatic melanoma.

Dr. Tsao shared what he felt was the biggest challenge, “Because the cancer genome is so mutable, often cancer cells will escape treatment strategies through a series of novel resistance mechanisms that have come to light in melanoma.”

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