Genetic Link to Melanoma and Renal Cell Cancer Identified

Susana Puig MD PhD Chief Dermatology Service Research Director "Melanoma: Imaging, genetics and immunology" at IDIBAPS Consultant & Assistant Professor Melanoma Unit, Dermatology Department Hospital Clinic, University of Barcelona Barcelona Spain

Dr. Susana Puig

MedicalResearch.com Interview with:
Susana Puig MD PhD
Chief Dermatology Service
Research Director
“Melanoma: Imaging, genetics and immunology” at IDIBAPS
Consultant & Assistant Professor
Melanoma Unit, Dermatology Department
Hospital Clinic, University of Barcelona
Barcelona Spain

Medical Research: What is the background for this study? What are the main findings?

Dr. Puig: CDKN2A is the main high-penetrance melanoma susceptibility gene. A rare functional variant in MITF, p.E318K (rs149617956), has been identified as a moderate risk allele in melanoma susceptibility and also predisposes to renal cell carcinoma.

In this study MITF p.E318K was associated with an increased melanoma risk (OR=3.3, p<0.01), especially in patients with multiple primary melanoma (OR=4.5, p<0.01) and high nevi count (>200 nevi) (OR=8.4, p<0.01). Interestingly, two fast growing melanomas were detected among two MITF p.E318K carriers during dermatologic digital follow-up. Furthermore, we have detected a similar prevalence of MITF p.E318K in CDKN2A wild-type and mutated individuals.

Medical Research: What should clinicians and patients take away from your report?

Dr. Puig: MITF p.E318K, besides increasing melanoma and renal cell carcinoma risk, could play a role in fast growing melanoma. MITF p.E318K genetic testing, should not exclude patients with known mutations in CDKN2A. Strict dermatological surveillance, periodical self examination and renal cell carcinoma surveillance should be encouraged in this context.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Puig: Future studies should be conducted to assess the specific role that this variant could have in the development of fast growing melanomas.

Citation:

Potrony M, Puig-Butille J, Aguilera P, et al. Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. JAMA Dermatol. Published online December 09, 2015. doi:10.1001/jamadermatol.2015.4356.

Susana Puig MD PhD (2015). Genetic Link to Melanoma and Renal Cell Cancer Identified