Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome – a matched cohort study
Menée à partir de données d'un registre suédois portant sur 353 personnes atteintes du syndrome de Birt-Hogg-Dubé, cette étude analyse le risque de cancer (autre que les tumeurs rénales) lié à ce syndrome
Background: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant cancer predisposition syndrome, caused by pathogenic variants in FLCN, characterized by benign fibrofolliculomas, pulmonary cysts, pneumothorax, and increased risk for kidney tumors. To date, the risk of other solid tumors in individuals with BHDS remains unclear.
Methods: We performed a register-based matched cohort study of 353 Swedish born individuals with verified pathogenic variants in FLCN to study the association between BHDS and other cancer types than kidney tumors. Each patient was matched to 50 comparisons, matched by birth year, birth county and sex. Associations were estimated using Cox Proportional Hazard models, expressed as Hazard Ratios with 95% Confidence Intervals.
Results: Patients with BHDS exhibited a significantly elevated risk of adult cancer (adjusted HR 2.25, 95% CI 1.76-2.87), primarily driven by kidney tumors. Colorectal cancer and malignant melanoma were more prevalent in the BHDS cohort, reflected by a fivefold increase in risk of colorectal cancer (adjusted HR 5.44, 95% CI 2.74-10.81) and an almost threefold risk of malignant melanoma (adjusted HR 2.67, 95% CI 1.17-6.07).
Conclusion: This study confirms the high risk of kidney tumors in BHDS and identifies increased risks for colorectal cancer and malignant melanoma, though the absolute risks remain low. Further research is needed to validate the colorectal cancer association and assess its implications for screening and management.
British Journal of Cancer , article en libre accès, 2025