This article is more than 5 years old. Information may no longer be current.

Genetic screening encouraged for high-risk melanoma patients

MIAMI BEACH, Fla. — Genetic counseling to detect a specific gene mutation that increases the risk for developing melanoma would benefit patients with a family history of the disease or who have more melanomas than would be expected, according to research presented at the American Academy of Dermatology Annual Meeting.

“There is a small subset of patients — about 10% of the melanoma population — that could benefit from genetic counseling and testing,” Sancy A. Leachman, MD, PhD, director of the melanoma and cutaneous oncology program at Huntsman Cancer Institute at the University of Utah, told Healio.com.

 

Sancy A. Leachman

“If a genetic test reveals that the patients carry a mutation in the CDKN2A/p16 gene, their risk may be as high as 76% of developing a melanoma in their lifetime,” Leachman said. “The level of prevention and screening in these patients needs to be increased for them and their family members because of their exceptionally high risk.”

Leachman said these CDKN2A/p16 mutation carriers also have a greater lifetime risk for pancreatic cancer (11%-17%).

Leachman and colleagues created recommendations — “the rule of threes” — for referring at-risk patients to genetic counseling. This would include at least three melanomas in one family, three or more melanomas in a single patient in a family, or at least three “cancer events” of melanomas or pancreatic cancers in one family. Leachman added that sending these patients to counseling doesn’t necessarily mean they will choose to undergo genetic testing.

For the patients who test positive for the genetic mutation, a dermatologist would initiate self- and physician-screening at puberty, which is earlier than routine for patients in the general population. Dermatologists should add pancreatic screening to those patients’ treatments, in addition to testing their first-degree relatives. Appropriate screening for patients who have had a melanoma should follow the National Comprehensive Cancer Network guidelines.

By detecting the p16 mutation, Leachman said, it could improve survival rates for patients who develop pancreatic cancer.

“We as dermatologists can really save somebody’s life by picking this up,” Leachman said.

— Bruce Thiel

For more information:

Leachman SA. S040: Is It Time for Genetic Testing in Melanoma — Why, When and Who? Presented at: American Academy of Dermatology 2013 Annual Meeting; March 1-5, Miami Beach, Fla.

Disclosure: Leachman serves on a medical and scientific advisory board for Myriad Genetics.