Improving care for Birt-Hogg-Dubé syndrome patients: clinical and genetic analysis of a unique cohort.
Myrovlytis Trust
Amsterdam UMC Location VUmc
We propose a clinical PhD project focusing on the risk of malignancies in Birt-Hogg-Dubé syndrome (BHD) and increasing awareness of BHD. Although the knowledge on the main features of BHD (skin, lungs, kidneys) has increased over the years, many unanswered questions remain that are highly relevant for diagnosis and management of BHD patients. Our large cohort of (>300) BHD patients allows us to study clinical aspects of BHD in detail. Furthermore, the size of our cohort and the frequency at which new families are diagnosed, indicates that BHD is an underdiagnosed disease. These issues form the basis of our two aims: 1. to evaluate the (individualized) risks for malignancies in patients with BHD, and 2. to increase awareness of BHD among other physicians. Our project is subdivided into four objectives. In the first objective, we will re-evaluate the lifetime risk for renal cell carcinoma (RCC) in patients with BHD along with possible additional risk factors for RCC, such as genotype, personal history of pneumothorax or fibrofolliculomas, renal cysts, family history of RCC, and lifestyle. In the second objective, we will focus on malignancies other than RCC, and compare their prevalence in patients with BHD, with their family members without BHD, and with general Dutch cancer statistics in a retrospective study. The results of these two objectives will provide important information for patients and physicians, and they will be used to re-evaluate the BHD guidelines. In the third and fourth objective, we aim to develop a website and an information leaflet for all Dutch pulmonologists, dermatologists and urologists to increase awareness of BHD among other physicians. The website will also provide patients with a source of information about BHD, and can be used to obtain informed consent for research.
2.1 Biological and endogenous factors