No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dub\xe9 syndrome

Irma Van De Beek,R Jeroen A Van Moorselaar,Hanne E J Meijers-Heijboer,Rob M F Wolthuis,Arjan C Houweling,Paul C Johannesma,Iris E Glykofridis,Hans J J P Gille

doi:10.1038/s41416-019-0693-1

Irma Van De Beek, R Jeroen A Van Moorselaar + Show 6 more

Open Access

https://doi.org/10.1038/s41416-019-0693-1

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Abstract

BackgroundPreviously, it has been suggested that colorectal polyps and carcinomas might be associated with Birt-Hogg-Dubé syndrome. We aimed to compare the occurrence of colorectal neoplasms between Dutch patients with Birt-Hogg-Dubé syndrome and their relatives without Birt-Hogg-Dubé syndrome.MethodsIn all, 399 patients with a pathogenic FLCN mutation and 382 relatives without the familial FLCN mutation were included. Anonymous data on colon and rectum pathology was provided by PALGA: the Dutch Pathology Registry.ResultsNo significant difference in the percentage of individuals with a history of colorectal carcinoma was found between the two groups (3.6% vs 2.6%, p = 0.54). There was also no significant difference between the age at diagnosis, diameter, differentiation and location of the colorectal carcinomas. Significantly more individuals with Birt-Hogg-Dubé syndrome underwent removal of colorectal polyps (12.2% vs 6.3%, p = 0.005). However, there was no significant difference between the number of polyps per person, the histology, grade of dysplasia and location of the polyps.ConclusionOur data do not provide evidence for an increased risk for colorectal carcinoma in Birt-Hogg-Dubé syndrome, arguing against the need for colorectal surveillance. The difference in polyps might be due to a bias caused by a higher number of colonoscopies in patients with Birt-Hogg-Dubé syndrome.

Highlights

It has been suggested that colorectal polyps and carcinomas might be associated with Birt-Hogg-Dubé syndrome
Colorectal carcinoma Overall, 24 colorectal carcinomas had occurred in 22 individuals
There was no significant difference in the percentage of individuals with CRC in the FLCNMUT and FLCNWT group (3.3% vs 2.4%, p = 0.52)

Summary

Introduction

It has been suggested that colorectal polyps and carcinomas might be associated with Birt-Hogg-Dubé syndrome. CONCLUSION: Our data do not provide evidence for an increased risk for colorectal carcinoma in Birt-Hogg-Dubé syndrome, arguing against the need for colorectal surveillance. The difference in polyps might be due to a bias caused by a higher number of colonoscopies in patients with Birt-Hogg-Dubé syndrome. One of them had several colon polyps and an incipient carcinoma (currently considered a polyp with high-grade dysplasia) and an association between the skin phenotype and the colon neoplasms was suggested by the authors.[5] Since colon polyps and colorectal carcinoma (CRC) have been reported in multiple patients with BHD.[6,7,8,9,10] only limited data are available from larger cohorts and no study has confirmed the association between BHD and colon neoplasms with significant statistical power to date. One study evaluated the association in a structured manner by comparing a group of BHD patients with of their family members without BHD and found that

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