Birt-Hogg-Dube syndrome. Bilateral oncocytic kidney tumors in a patient

被引：1

作者：

Westermann, D. H. ^{[1
]}

Ruediger, T. ^{[2
]}

Lohe, B. ^{[2
]}

Frohneberg, D. ^{[1
]}

机构：

[1] Stadt Klinikum Karlsruhe, Urol Klin, D-76133 Karlsruhe, Germany

[2] Stadt Klinikum Karlsruhe, Inst Pathol, D-76133 Karlsruhe, Germany

来源：

UROLOGE | 2010年 / 49卷 / 12期

关键词：

Hybrid tumor; Kidney; Birt-Hogg-Dube syndrome; Kidney tumor; bilateral; RENAL TUMORS; SPONTANEOUS PNEUMOTHORAX; MUTATIONS; NEOPLASIA; FAMILIES; CYSTS;

D O I：

10.1007/s00120-010-2427-0

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

We report on a rare case of bilateral oncocytic kidney tumors in a patient with Birt-Hogg-Dube syndrome (BHD). BHD is an autosomal inherited cancer syndrome associated with multiple kidney tumors, benign cutaneous tumors, and pulmonary cysts with spontaneous pneumothorax. To date about 50 BHD families have been described. Patients are best treated with nephron-sparing surgery. Close follow-up is mandatory because recurrence in previously operated kidneys and metastatic tumor progression can occur. Family members at risk should also early be screened for BHD.

引用

页码：1527 / 1531

页数：5

共 11 条

[1] HEREDITARY MULTIPLE FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS
BIRT, AR
HOGG, GR
DUBE, WJ
[J]. ARCHIVES OF DERMATOLOGY, 1977, 113 (12) : 1674 - 1677
[2] Hereditary renal cancers
Choyke, PL
Glenn, GM
Walther, MM
Zbar, B
Linehan, WM
[J]. RADIOLOGY, 2003, 226 (01) : 33 - 46
[3] Radiological findings in Birt-Hogg-Dube syndrome: a rare differential for pulmonary cysts and renal tumors
Gupta, Pramod
Eshaghi, Nahid
Kamba, Thompson T.
Ghole, Vidisha
Garcia-Morales, Francisco
[J]. CLINICAL IMAGING, 2007, 31 (01) : 40 - 43
[4] Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
Nickerson, ML
Warren, MB
Toro, JR
Matrosova, V
Glenn, G
Turner, ML
Duray, P
Merino, M
Choyke, P
Pavlovich, CP
Sharma, N
Walther, M
Munroe, D
Hill, R
Maher, E
Greenberg, C
Lerman, MI
Linehan, WM
Zbar, B
Schmidt, LS
[J]. CANCER CELL, 2002, 2 (02) : 157 - 164
[5] Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome
Pavlovich, CP
Grubb, RL
Hurley, K
Glenn, GM
Toro, J
Schmidt, LS
Torres-Cabala, C
Merino, MJ
Zbar, B
Choyke, P
Walther, MM
Linehan, WM
[J]. JOURNAL OF UROLOGY, 2005, 173 (05) : 1482 - 1486
[6] Renal tumors in the Birt-Hogg-Dube syndrome
Pavlovich, CP
Walther, MA
Eyler, RA
Hewitt, SM
Zbar, B
Linehan, WM
Merino, MJ
[J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (12) : 1542 - 1552
[7] Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
Schmidt, LS
Warren, MB
Nickerson, ML
Weirich, G
Matrosova, V
Toro, JR
Turner, ML
Duray, P
Merino, M
Hewitt, S
Pavlovich, CP
Glenn, G
Greenberg, CR
Linehan, WM
Zbar, B
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 876 - 882
[8] BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome:: a new series of 50 families and a review of published reports
Toro, J. R.
Wei, M-H
Glenn, G. M.
Weinreich, M.
Toure, O.
Vocke, C.
Turner, M.
Choyke, P.
Merino, M. J.
Pinto, P. A.
Steinberg, S. M.
Schmidt, L. S.
Linehan, W. M.
[J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (06) : 321 - 331
[9] Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome
Toro, Jorge R.
Pautler, Stephen E.
Stewart, Laveta
Glenn, Gladys M.
Weinreich, Michael
Toure, Ousmane
Wei, Ming-Hui
Schmidt, Laura S.
Davis, Lewis
Zbar, Berton
Choyke, Peter
Steinberg, Seth M.
Nguyen, Dao M.
Linehan, W. Marston
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2007, 175 (10) : 1044 - 1053
[10] Birt-Hogg-Dube syndrome - A novel marker of kidney neoplasia
Toro, JR
Glenn, G
Duray, P
Darling, T
Weirich, G
Zbar, B
Linehan, M
Turner, ML
[J]. ARCHIVES OF DERMATOLOGY, 1999, 135 (10) : 1195 - 1202

← 1 2 →