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EVALUATION AND MANAGEMENT OF RENAL TUMORS IN THE BIRT-HOGG-DUBÉ SYNDROME

2005; Lippincott Williams & Wilkins; Volume: 173; Issue: 5 Linguagem: Inglês

10.1097/01.ju.0000154629.45832.30

1527-3792

Christian P. Pavlovich, Robert L. Grubb, Kathleen Hurley, G.M. Glenn, Jorge R. Toro, Laura S. Schmidt, Carlos A. Torres‐Cabala, Maria J. Merino, Berton Zbar, Peter L. Choyke, McClellan M. Walther, W. Marston Linehan,

Tuberous Sclerosis Complex Research

No AccessJournal of UrologyAdult Urology: Oncology: Renal/Upper Tract/Bladder1 May 2005EVALUATION AND MANAGEMENT OF RENAL TUMORS IN THE BIRT-HOGG-DUBÉ SYNDROMEis corrected byERRATA CHRISTIAN P. PAVLOVICH, ROBERT L. GRUBB, KATHLEEN HURLEY, GLADYS M. GLENN, JORGE TORO, LAURA S. SCHMIDT, CARLOS TORRES-CABALA, MARIA J. MERINO, BERTON ZBAR, PETER CHOYKE, McCLELLAN M. WALTHER, and W. MARSTON LINEHAN CHRISTIAN P. PAVLOVICHCHRISTIAN P. PAVLOVICH , ROBERT L. GRUBBROBERT L. GRUBB , KATHLEEN HURLEYKATHLEEN HURLEY , GLADYS M. GLENNGLADYS M. GLENN , JORGE TOROJORGE TORO , LAURA S. SCHMIDTLAURA S. SCHMIDT , CARLOS TORRES-CABALACARLOS TORRES-CABALA , MARIA J. MERINOMARIA J. MERINO , BERTON ZBARBERTON ZBAR , PETER CHOYKEPETER CHOYKE , McCLELLAN M. WALTHERMcCLELLAN M. WALTHER , and W. MARSTON LINEHANW. MARSTON LINEHAN View All Author Informationhttps://doi.org/10.1097/01.ju.0000154629.45832.30AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors. Materials and Methods: A total of 124 affected individuals underwent comprehensive clinical evaluation, including body computerized tomography, to determine cutaneous, pulmonary and renal manifestations of BHD. Of these individuals 14 had their renal tumors managed at our institution. Results: Of the 124 BHD affected individuals 34 (27%) had renal tumors of various histologies, most commonly hybrid oncocytic tumor and chromophobe renal carcinoma. Average age at renal tumor detection was 50.4 years and multiple tumors were found in a majority of patients. Some patients with renal tumors were identified that did not have the characteristic cutaneous hallmarks of BHD. In 4 of the 14 patients treated at our institution small (less than 3 cm) renal tumors were observed, while 10 others underwent a total of 12 renal procedures, including 4 radical and 8 partial nephrectomies. At a median of 38 months of followup 5 of these 10 patients remained free of disease, 3 had small renal tumors and 2 died of metastatic renal cancer. Conclusions: Patients with BHD are at risk for multiple renal tumors that are often malignant and can metastasize. Individuals at risk or affected by BHD should be radiographically screened for renal tumors at periodic intervals and they are best treated with nephron sparing surgical approaches. Genetic testing for this syndrome is now available. References 1 : Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol1977; 113: 1674. Google Scholar 2 : Bilateral renal cell carcinoma in the Birt-Hogg-Dube syndrome. J Am Acad Dermatol1993; 29: 1055. Google Scholar 3 : Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol1999; 135: 1195. Google Scholar 4 : Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet2001; 69: 876. Google Scholar 5 : 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. Cancer Cell2002; 2: 157. Google Scholar 6 : Editorial: kidney cancer—a unique opportunity for the development of disease specific therapy. J Urol2002; 168: 2411. Link, Google Scholar 7 : Renal tumors in the Birt-Hogg-Dube syndrome. Am J Surg Pathol2002; 26: 1542. Google Scholar 8 : Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol2001; 165: 777. Link, Google Scholar 9 : Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev2002; 11: 393. Google Scholar 10 : Intraoperative ultrasound during renal parenchymal sparing surgery for hereditary renal cancers: a 10-year experience. J Urol2001; 165: 397. Link, Google Scholar 11 : The Heidelberg classification of renal cell tumours. J Pathol1997; 183: 131. Crossref, Medline, Google Scholar 12 : Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer1997; 80: 987. Crossref, Medline, Google Scholar 13 : Renal oncocytosis: a morphologic study of fourteen cases. Am J Surg Pathol1999; 23: 1094. Google Scholar 14 : Enucleation procedures in patients with multiple hereditary renal tumors. World J Urol1995; 13: 248. Google Scholar 15 : Fibromes perifolliculaires, polypose coliqe familiale, pneumothorax spontanes familiaux. Ann Dermatol Venereol1986; 113: 928. Google Scholar 16 : Early detection of renal cell carcinoma by ultrasonographic screening—based on the results of 13 years screening in Japan. Ultrasound Med Biol1999; 25: 1033. Google Scholar 17 : Incidental detection of preclinical renal tumors with electron beam computed tomography: report of 26 consecutive operated patients. J Comput Assist Tomogr2000; 24: 843. Google Scholar 18 : Clinical and genetic studies of Birt-Hogg-Dube syndrome. J Med Genet2002; 39: 906. Google Scholar From the Urologic Oncology (CP, RLG III, KH, MMW, MWL) and Genetic Epidemiology (GMG, JT) Branches, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC-Frederick, Inc., National Cancer Institute Frederick (LSS), Frederick and Laboratories of Pathology (CT-C, MJM) and Immunobiology (BZ) and Molecular Imaging Program (PC), Center for Cancer Research, Bethesda, Maryland© 2005 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byLaguna M (2014) Re: Defining Early-Onset Kidney Cancer: Implications for Germline and Somatic Mutation Testing and Clinical ManagementJournal of Urology, VOL. 192, NO. 3, (721-722), Online publication date: 1-Sep-2014.Boris R, Benhammou J, Merino M, Pinto P, Linehan W and Bratslavsky G (2011) The Impact of Germline BHD Mutation on Histological Concordance and Clinical Treatment of Patients With Bilateral Renal Masses and Known Unilateral OncocytomaJournal of Urology, VOL. 185, NO. 6, (2050-2055), Online publication date: 1-Jun-2011.Adamy A, Lowrance W, Yee D, Chong K, Bernstein M, Tickoo S, Coleman J and Russo P (2011) Renal Oncocytosis: Management and Clinical OutcomesJournal of Urology, VOL. 185, NO. 3, (795-801), Online publication date: 1-Mar-2011.Grubb R, Franks M, Toro J, Middelton L, Choyke L, Fowler S, Torres-Cabala C, Glenn G, Choyke P, Merino M, Zbar B, Pinto P, Srinivasan R, Coleman J and Linehan W (2018) Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal CancerJournal of Urology, VOL. 177, NO. 6, (2074-2080), Online publication date: 1-Jun-2007.Related articlesJournal of Urology9 Nov 2018ERRATA Volume 173Issue 5May 2005Page: 1482-1486 Advertisement Copyright & Permissions© 2005 by American Urological Association, Inc.Keywordskidney neoplasmskidneypneumothoraxgene expressionMetricsAuthor Information CHRISTIAN P. PAVLOVICH Equal study contribution. More articles by this author ROBERT L. GRUBB Equal study contribution. More articles by this author KATHLEEN HURLEY More articles by this author GLADYS M. GLENN More articles by this author JORGE TORO More articles by this author LAURA S. SCHMIDT More articles by this author CARLOS TORRES-CABALA More articles by this author MARIA J. MERINO More articles by this author BERTON ZBAR More articles by this author PETER CHOYKE More articles by this author McCLELLAN M. WALTHER More articles by this author W. MARSTON LINEHAN More articles by this author Expand All Advertisement PDF downloadLoading ...