Posted: Monday, August 8, 2022
Patients with tuberous sclerosis may develop benign tumors in various organs and can often present with skin concerns. In a research letter published in the Journal of the American Academy of Dermatology, researchers investigated the skin cancer risk in patients with this rare genetic condition, since this association is not well quantified within the patient population. Kavita Y. Sarin, MD, PhD, of the Stanford University School of Medicine, California, and colleagues performed a retrospective cohort study to examine skin cancer risk and found that overall, patients with tuberous sclerosis have increased odds of developing melanoma.
“Tuberous sclerosis…is an autosomal-dominant genetic syndrome…caused by loss of function mutations in the tumor suppressor genes TSC1 or TSC2…. Patients often present to dermatology clinics for skin concerns, [therefore] quantifying melanoma risk will inform dermatologic screening and earlier cancer detection in this population,” stated Dr. Sarin and colleagues.
A total of 1,917 patients with tuberous sclerosis were included in this retrospective study. Each patient was matched 1:10 to controls without tuberous sclerosis in terms of age, sex, race, region, and length of enrollment. The primary outcomes were melanoma, basal cell carcinoma, and squamous cell carcinoma. Chi-squared testing was used to assess differences between groups, and conditional logistic regressions were used to calculate the odds ratios for associations between tuberous sclerosis and skin cancer.
Findings revealed that patients with tuberous sclerosis displayed increased odds of melanoma (odds ratio [OR] = 2.10; P < .001) and had a younger median age of melanoma diagnosis compared with controls. However, there was no significant increase in the odds of non-melanoma skin cancers (OR = 1.10; P =.373). Overall, these findings highlight the need to quantify melanoma risk in this population as a means of early cancer detection.
Disclosure: The study authors reported no conflicts of interest.
Journal of the American Academy of Dermatology