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.
Original languageEnglish
Article numbere0212952
JournalPLoS ONE
Volume14
Issue number3
DOIs
Publication statusPublished - 1 Mar 2019

Cite this

@article{421e9d519ec64bd7a678d2c53c1cc2d8,
title = "Renal imaging in 199 Dutch patients with Birt-Hogg-Dub{\'e} syndrome: Screening compliance and outcome",
abstract = "Birt-Hogg-Dub{\'e} 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-Dub{\'e} 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.",
author = "Johannesma, {Paul C.} and {van de Beek}, Irma and {van der Wel}, {Tijmen J. W. T.} and Rinze Reinhard and Lawrence Rozendaal and Starink, {Theo M.} and {van Waesberghe}, {Jan Hein T. M.} and Simon Horenblas and Gille, {Hans J. J. P.} and Jonker, {Marianne A.} and Meijers-Heijboer, {Hanne E. J.} and Postmus, {Pieter E.} and Houweling, {Arjan C.} and {van Moorselaar}, {Jeroen R. A.}",
year = "2019",
month = "3",
day = "1",
doi = "10.1371/journal.pone.0212952",
language = "English",
volume = "14",
journal = "PLoS ONE",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "3",

}

Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome. / Johannesma, Paul C.; van de Beek, Irma; van der Wel, Tijmen J. W. T.; Reinhard, Rinze; Rozendaal, Lawrence; Starink, Theo M.; van Waesberghe, Jan Hein T. M.; Horenblas, Simon; Gille, Hans J. J. P.; Jonker, Marianne A.; Meijers-Heijboer, Hanne E. J.; Postmus, Pieter E.; Houweling, Arjan C.; van Moorselaar, Jeroen R. A.

In: PLoS ONE, Vol. 14, No. 3, e0212952, 01.03.2019.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome

AU - Johannesma, Paul C.

AU - van de Beek, Irma

AU - van der Wel, Tijmen J. W. T.

AU - Reinhard, Rinze

AU - Rozendaal, Lawrence

AU - Starink, Theo M.

AU - van Waesberghe, Jan Hein T. M.

AU - Horenblas, Simon

AU - Gille, Hans J. J. P.

AU - Jonker, Marianne A.

AU - Meijers-Heijboer, Hanne E. J.

AU - Postmus, Pieter E.

AU - Houweling, Arjan C.

AU - van Moorselaar, Jeroen R. A.

PY - 2019/3/1

Y1 - 2019/3/1

N2 - 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.

AB - 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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UR - https://www.ncbi.nlm.nih.gov/pubmed/30845233

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