Is Colorectal Neoplasia Part of the Birt-Hogg-Dubé Syndrome?

Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease originally characterized by the cutaneous triad of multiple fibrofolliculomas, trichodiscomas and acrochordons. Besides these benign skin tumours this cancer syndrome is characterized by pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma. It is controversial if an increased risk of other internal malignancies is part of the syndrome. We report a three generation family with BHD syndrome with a germline mutation in the FLCN gene. Two family members were diagnosed with colorectal cancer (CRC). We have been able to demonstrate LOH of the wildtype allele of the FLCN gene in the two family members indicating that this cancer type is part of the phenotypic presentation in this Danish BHD family.