A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Fred H. Menko; Paul C. Johannesma; R. Jeroen A van Moorselaar; Rinze Reinhard; Jan Hein van Waesberghe; Erik Thunnissen; Arjan C. Houweling; Edward M. Leter; Quinten Waisfisz; Martijn B. van Doorn; Theo M. Starink; Pieter E. Postmus; Barry J. Coull; Maurice A. M. van Steensel; Johan J. P. Gille

doi:10.1007/s10689-012-9593-8

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Fred H. Menko (Lead / Corresponding author), Paul C. Johannesma, R. Jeroen A van Moorselaar, Rinze Reinhard, Jan Hein van Waesberghe, Erik Thunnissen, Arjan C. Houweling, Edward M. Leter, Quinten Waisfisz, Martijn B. van Doorn, Theo M. Starink, Pieter E. Postmus, Barry J. Coull, Maurice A. M. van Steensel, Johan J. P. Gille

Biological Chemistry and Drug Discovery

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

17 Citations (Scopus)

Abstract

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.

Original language	English
Pages (from-to)	373-379
Number of pages	7
Journal	Familial Cancer
Volume	12
Issue number	3
Early online date	22 Dec 2012
DOIs	https://doi.org/10.1007/s10689-012-9593-8
Publication status	Published - Sept 2013

Keywords

Birt-Hogg-Dubé syndrome
De novo mutation
Folliculin
Pneumothorax
Renal cancer

ASJC Scopus subject areas

Cancer Research
Genetics
Oncology
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s10689-012-9593-8

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Menko, F. H., Johannesma, P. C., van Moorselaar, R. J. A., Reinhard, R., van Waesberghe, J. H., Thunnissen, E., Houweling, A. C., Leter, E. M., Waisfisz, Q., van Doorn, M. B., Starink, T. M., Postmus, P. E., Coull, B. J., van Steensel, M. A. M., & Gille, J. J. P. (2013). A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Familial Cancer, 12(3), 373-379. https://doi.org/10.1007/s10689-012-9593-8

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title = "A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation",

abstract = "Birt-Hogg-Dub{\'e} syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.",

keywords = "Birt-Hogg-Dub{\'e} syndrome, De novo mutation, Folliculin, Pneumothorax, Renal cancer",

author = "Menko, {Fred H.} and Johannesma, {Paul C.} and {van Moorselaar}, {R. Jeroen A} and Rinze Reinhard and {van Waesberghe}, {Jan Hein} and Erik Thunnissen and Houweling, {Arjan C.} and Leter, {Edward M.} and Quinten Waisfisz and {van Doorn}, {Martijn B.} and Starink, {Theo M.} and Postmus, {Pieter E.} and Coull, {Barry J.} and {van Steensel}, {Maurice A. M.} and Gille, {Johan J. P.}",

year = "2013",

month = sep,

doi = "10.1007/s10689-012-9593-8",

language = "English",

volume = "12",

pages = "373--379",

journal = "Familial Cancer",

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Menko, FH, Johannesma, PC, van Moorselaar, RJA, Reinhard, R, van Waesberghe, JH, Thunnissen, E, Houweling, AC, Leter, EM, Waisfisz, Q, van Doorn, MB, Starink, TM, Postmus, PE, Coull, BJ, van Steensel, MAM & Gille, JJP 2013, 'A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation', Familial Cancer, vol. 12, no. 3, pp. 373-379. https://doi.org/10.1007/s10689-012-9593-8

TY - JOUR

T1 - A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

AU - Menko, Fred H.

AU - Johannesma, Paul C.

AU - van Moorselaar, R. Jeroen A

AU - Reinhard, Rinze

AU - van Waesberghe, Jan Hein

AU - Thunnissen, Erik

AU - Houweling, Arjan C.

AU - Leter, Edward M.

AU - Waisfisz, Quinten

AU - van Doorn, Martijn B.

AU - Starink, Theo M.

AU - Postmus, Pieter E.

AU - Coull, Barry J.

AU - van Steensel, Maurice A. M.

AU - Gille, Johan J. P.

PY - 2013/9

Y1 - 2013/9

N2 - Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.

AB - Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novo FLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.

KW - Birt-Hogg-Dubé syndrome

KW - De novo mutation

KW - Folliculin

KW - Pneumothorax

KW - Renal cancer

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AN - SCOPUS:84885949647

SN - 1389-9600

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JF - Familial Cancer

IS - 3

ER -

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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