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. 2019 Mar 7;14(3):e0212952.
doi: 10.1371/journal.pone.0212952. eCollection 2019.

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

Paul C Johannesma  1   2 , Irma van de Beek  3 , Tijmen J W T van der Wel  1 , Rinze Reinhard  4 , Lawrence Rozendaal  5 , Theo M Starink  6 , Jan Hein T M van Waesberghe  7 , Simon Horenblas  8 , Hans J J P Gille  3 , Marianne A Jonker  9   10 , Hanne E J Meijers-Heijboer  3 , Pieter E Postmus  11 , Arjan C Houweling  3 , Jeroen R A van Moorselaar  12
Affiliations

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

Paul C Johannesma et al. PLoS One. .

Abstract

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.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Screening data of 199 BHD patients.
See this image and copyright information in PMC

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