Association between malignancies and Marfan syndrome: a population-based, nested case-control study in Taiwan

Area of Science:

• Genetics and Molecular Biology
• Oncology
• Cardiovascular Medicine

Background:

• Marfan syndrome (MFS) is a genetic disorder affecting the extracellular matrix, linked to fibrillin-1 deficiency and TGF-β pathway overactivation.
• The TGF-β pathway is implicated in malignant transformation, with anecdotal evidence suggesting a link between MFS and various cancers.
• Previous studies have not comprehensively evaluated the association between MFS and malignancy risk.

Purpose of the Study:

• To investigate the potential increased risk of malignancy in patients diagnosed with Marfan syndrome.
• To analyze large-scale population data to confirm or refute associations between MFS and cancer development.

Main Methods:

• A nested case-control study was conducted using Taiwan's National Health Insurance Research Database.
• International Classification of Diseases, 9th Revision codes were used to categorize medical conditions.
• Conditional logistic regression was employed to estimate odds ratios (ORs) and 95% confidence intervals (CIs), adjusting for comorbidities.

Main Results:

• The study included over 1.15 million cancer cases and an equal number of matched controls.
• Patients with MFS showed a significantly higher risk of malignancy (adjusted OR 3.991) compared to controls.
• MFS patients had increased risks for head and neck, and urinary tract cancers, and were more likely to be male.

Conclusions:

• Individuals with Marfan syndrome face an elevated risk of developing diverse malignancies.
• Healthcare providers should exercise vigilance for cancer in MFS patients.
• Enhanced cancer surveillance protocols may be warranted for the Marfan syndrome population.