Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

A. C. Houweling; L. M. Gijezen; M. A. Jonker; M. B. A. van Doorn; R. A. Oldenburg; K. Y. van Spaendonck-Zwarts; E. M. Leter; T. A. van Os; N. C. T. van Grieken; E. H. Jaspars; M. M. de Jong; P. C. Johannesma; P. E. Postmus; R. J. A. van Moorselaar; J-H T. M. van Waesberghe; T. M. Starink; M. A. M. van Steensel; J. J. P. Gille; F. H. Menko; Ernie M. H. F. Bongers

doi:10.1038/bjc.2011.463

Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

A. C. Houweling
, L. M. Gijezen
, M. A. Jonker
, M. B. A. van Doorn
, R. A. Oldenburg
, K. Y. van Spaendonck-Zwarts
, E. M. Leter
, T. A. van Os
, N. C. T. van Grieken
, E. H. Jaspars
, M. M. de Jong
, P. C. Johannesma
, P. E. Postmus
, R. J. A. van Moorselaar
, J-H T. M. van Waesberghe
, T. M. Starink
, M. A. M. van Steensel
, J. J. P. Gille
, F. H. Menko^*
, Ernie M. H. F. Bongers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

147 Citations (Scopus)

328 Downloads (Pure)

Abstract

BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD.

METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families.

RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were

CONCLUSION: We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29%. We discuss the implications of our findings for diagnosis and management of BHD. British Journal of Cancer (2011) 105, 1912-1919. doi: 10.1038/bjc.2011.463 www.bjcancer.com (C) 2011 Cancer Research UK

Original language	English
Pages (from-to)	1912-1919
Number of pages	8
Journal	British Jounal of Cancer
Volume	105
Issue number	12
DOIs	https://doi.org/10.1038/bjc.2011.463
Publication status	Published - 6-Dec-2011

Keywords

Birt-Hogg-Dube syndrome
folliculin
fibrofolliculoma
renal cancer
discoid fibroma
pneumothorax
CELL CARCINOMA
LUNG CYSTS
GENE FLCN
TUMORS
TRICHODISCOMAS
MANAGEMENT
SPECTRUM
ADULTS

Access to Document

10.1038/bjc.2011.463Licence: CC BY-NC-SA

Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndromeFinal publisher's version, 492 KBLicence: CC BY-NC-SA

Handle.net

Persistent link

Cite this

Houweling, A. C., Gijezen, L. M., Jonker, M. A., van Doorn, M. B. A., Oldenburg, R. A., van Spaendonck-Zwarts, K. Y., Leter, E. M., van Os, T. A., van Grieken, N. C. T., Jaspars, E. H., de Jong, M. M., Johannesma, P. C., Postmus, P. E., van Moorselaar, R. J. A., van Waesberghe, J.-H. T. M., Starink, T. M., van Steensel, M. A. M., Gille, J. J. P., Menko, F. H., & Bongers, E. M. H. F. (2011). Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British Jounal of Cancer, 105(12), 1912-1919. https://doi.org/10.1038/bjc.2011.463

@article{ab03bff245054416a4f79f94cb0e55cd,

title = "Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families",

abstract = "BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD.METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families.RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 wereCONCLUSION: We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16\% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29\%. We discuss the implications of our findings for diagnosis and management of BHD. British Journal of Cancer (2011) 105, 1912-1919. doi: 10.1038/bjc.2011.463 www.bjcancer.com (C) 2011 Cancer Research UK",

keywords = "Birt-Hogg-Dube syndrome, folliculin, fibrofolliculoma, renal cancer, discoid fibroma, pneumothorax, CELL CARCINOMA, LUNG CYSTS, GENE FLCN, TUMORS, TRICHODISCOMAS, MANAGEMENT, SPECTRUM, ADULTS",

author = "Houweling, \{A. C.\} and Gijezen, \{L. M.\} and Jonker, \{M. A.\} and \{van Doorn\}, \{M. B. A.\} and Oldenburg, \{R. A.\} and \{van Spaendonck-Zwarts\}, \{K. Y.\} and Leter, \{E. M.\} and \{van Os\}, \{T. A.\} and \{van Grieken\}, \{N. C. T.\} and Jaspars, \{E. H.\} and \{de Jong\}, \{M. M.\} and Johannesma, \{P. C.\} and Postmus, \{P. E.\} and \{van Moorselaar\}, \{R. J. A.\} and \{van Waesberghe\}, \{J-H T. M.\} and Starink, \{T. M.\} and \{van Steensel\}, \{M. A. M.\} and Gille, \{J. J. P.\} and Menko, \{F. H.\} and Bongers, \{Ernie M. H. F.\}",

year = "2011",

month = dec,

day = "6",

doi = "10.1038/bjc.2011.463",

language = "English",

volume = "105",

pages = "1912--1919",

journal = "British Jounal of Cancer",

issn = "0007-0920",

publisher = "Nature Publishing Group",

number = "12",

}

Houweling, AC, Gijezen, LM, Jonker, MA, van Doorn, MBA, Oldenburg, RA, van Spaendonck-Zwarts, KY, Leter, EM, van Os, TA, van Grieken, NCT, Jaspars, EH, de Jong, MM, Johannesma, PC, Postmus, PE, van Moorselaar, RJA, van Waesberghe, J-HTM, Starink, TM, van Steensel, MAM, Gille, JJP, Menko, FH & Bongers, EMHF 2011, 'Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families', British Jounal of Cancer, vol. 105, no. 12, pp. 1912-1919. https://doi.org/10.1038/bjc.2011.463

TY - JOUR

T1 - Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

AU - Houweling, A. C.

AU - Gijezen, L. M.

AU - Jonker, M. A.

AU - van Doorn, M. B. A.

AU - Oldenburg, R. A.

AU - van Spaendonck-Zwarts, K. Y.

AU - Leter, E. M.

AU - van Os, T. A.

AU - van Grieken, N. C. T.

AU - Jaspars, E. H.

AU - de Jong, M. M.

AU - Johannesma, P. C.

AU - Postmus, P. E.

AU - van Moorselaar, R. J. A.

AU - van Waesberghe, J-H T. M.

AU - Starink, T. M.

AU - van Steensel, M. A. M.

AU - Gille, J. J. P.

AU - Menko, F. H.

AU - Bongers, Ernie M. H. F.

PY - 2011/12/6

Y1 - 2011/12/6

N2 - BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD.METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families.RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 wereCONCLUSION: We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29%. We discuss the implications of our findings for diagnosis and management of BHD. British Journal of Cancer (2011) 105, 1912-1919. doi: 10.1038/bjc.2011.463 www.bjcancer.com (C) 2011 Cancer Research UK

AB - BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD.METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families.RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 wereCONCLUSION: We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29%. We discuss the implications of our findings for diagnosis and management of BHD. British Journal of Cancer (2011) 105, 1912-1919. doi: 10.1038/bjc.2011.463 www.bjcancer.com (C) 2011 Cancer Research UK

KW - Birt-Hogg-Dube syndrome

KW - folliculin

KW - fibrofolliculoma

KW - renal cancer

KW - discoid fibroma

KW - pneumothorax

KW - CELL CARCINOMA

KW - LUNG CYSTS

KW - GENE FLCN

KW - TUMORS

KW - TRICHODISCOMAS

KW - MANAGEMENT

KW - SPECTRUM

KW - ADULTS

U2 - 10.1038/bjc.2011.463

DO - 10.1038/bjc.2011.463

M3 - Article

C2 - 22146830

SN - 0007-0920

VL - 105

SP - 1912

EP - 1919

JO - British Jounal of Cancer

JF - British Jounal of Cancer

IS - 12

ER -

Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Abstract

Keywords

Access to Document

Handle.net

Fingerprint

Cite this