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

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A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; A clinical and molecular evaluation. / Menko, Fred H.; Johannesma, Paul C.; Van Moorselaar, R. Jeroen A. et al.
In: Familial Cancer, Vol. 12, No. 3, 01.09.2013, p. 373-379.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

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

APA

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

Vancouver

Menko FH, Johannesma PC, Van Moorselaar RJA, Reinhard R, Van Waesberghe JH, Thunnissen E et al. A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; A clinical and molecular evaluation. Familial Cancer. 2013 Sept 1;12(3):373-379. doi: 10.1007/s10689-012-9593-8

Author

Menko, Fred H. ; Johannesma, Paul C. ; Van Moorselaar, R. Jeroen A. et al. / A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; A clinical and molecular evaluation. In: Familial Cancer. 2013 ; Vol. 12, No. 3. pp. 373-379.

Bibtex

@article{94056ba07e404832ba9fb0f6ffffc80c,

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,

day = "1",

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

language = "English",

volume = "12",

pages = "373--379",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer Netherlands",

number = "3",

}

RIS

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 - 2013/9/1

Y1 - 2013/9/1

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

U2 - 10.1007/s10689-012-9593-8

DO - 10.1007/s10689-012-9593-8

M3 - Journal article

C2 - 23264078

AN - SCOPUS:84885949647

VL - 12

SP - 373

EP - 379

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 3

ER -

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