Data from: Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: screening compliance and outcome

Birt-Hogg-Dubé syndrome is associated with an increased risk for renal
cell carcinoma. Surveillance is recommended, but the optimal imaging
method and screening interval remain to be defined. The main aim of our
study was to evaluate the outcomes of RCC surveillance to get insight in
the safety of annual US in these patients. Surveillance data and medical
records of 199 patients with Birt-Hogg-Dubé syndrome were collected
retrospectively using medical files and a questionnaire. These patients
were diagnosed in two Dutch hospitals and data were collected until June
2014. A first screening for renal cell carcinoma was performed in 172/199
patients (86%). Follow-up data were available from 121 patients. The mean
follow-up period per patient was 4.2 years. Of the patients known to be
under surveillance, 83% was screened at least annually and 94% at least
every two years. Thirty-eight renal cell carcinomas had occurred in 23
patients. The mean age at diagnosis of the first tumour was 51. Eighteen
tumours were visualized by ultrasound. Nine small tumours (7-27 mm) were
visible on MRI or CT and not detected using ultrasound. Our data indicate
that compliance to renal screening is relatively high. Furthermore,
ultrasound might be a sensitive, cheap and widely available alternative
for MRI or part of the MRIs for detecting clinically relevant renal
tumours in BHD patients,but the limitations should be considered
carefully. . Data from larger cohorts are necessary to confirm these
observations.