Renal tumors in the Birt-Hogg-Dubé syndrome

Christian Pavlovich, McClellan M. Walther, Robin A. Eyler, Stephen M. Hewitt, Berton Zbar, W. Marston Linehan, Maria J. Merino

Research output: Contribution to journalArticle

Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genodermatosis characterized by the development of small dome-shaped papules on the face, neck, and upper trunk (fibrofolliculomas). In addition to these benign hair follicle tumors, BHD confers an increased risk of renal neoplasia and spontaneous pneumothorax. To date, there has been no systematic pathologic analysis of the renal tumors associated with this syndrome. We reviewed 130 solid renal tumors resected from 30 patients with BHD in 19 different families. Preoperative computed tomography scans demonstrated a mean of 5.3 tumors per patient (range 1-28 tumors), the largest tumors averaging 5.7 cm in diameter (± 3.4 cm, range 1.2-15 cm). Multiple and bilateral tumors were noted at an early age (mean 50.7 years). The resected tumors consisted predominantly of chromophobe renal cell carcinomas (44 of 130, 34%) or of hybrid oncocytic neoplasms that had areas reminiscent of chromophobe renal cell carcinoma and oncocytoma (65 of 130, 50%). Twelve clear cell (conventional) renal carcinomas (12 of 130, 9%) were diagnosed in nine patients. These tumors were on average larger (4.7 ± 4.2 cm) than the chromophobe (3.0 ± 2.5 cm) and hybrid tumors (2.2 ± 2.4 cm). Microscopic oncocytosis was found in the renal parenchyma of most patients, including the parenchyma of five patients with evidence of clear cell renal cell carcinoma. Our findings suggest that microscopic oncocytic lesions may be precursors of hybrid oncocytic tumors, chromophobe renal cell carcinomas, and perhaps clear cell renal cell carcinomas in patients with BHD syndrome. Recognition by the pathologist of the unusual renal tumors associated with BHD may assist in the clinical diagnosis of the syndrome.

Original languageEnglish (US)
Pages (from-to)1542-1552
Number of pages11
JournalAmerican Journal of Surgical Pathology
Volume26
Issue number12
DOIs
StatePublished - Dec 2002
Externally publishedYes

Fingerprint

Kidney
Renal Cell Carcinoma
Neoplasms
Hair Follicle
Pneumothorax
Neck
Tomography

Keywords

  • Birt-Hogg-Dubé syndrome
  • Chromophobe renal cell carcinoma
  • Clear cell (conventional) renal cell carcinoma
  • Kidney cancer
  • Oncocytosis

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Pavlovich, C., Walther, M. M., Eyler, R. A., Hewitt, S. M., Zbar, B., Linehan, W. M., & Merino, M. J. (2002). Renal tumors in the Birt-Hogg-Dubé syndrome. American Journal of Surgical Pathology, 26(12), 1542-1552. https://doi.org/10.1097/00000478-200212000-00002

Renal tumors in the Birt-Hogg-Dubé syndrome. / Pavlovich, Christian; Walther, McClellan M.; Eyler, Robin A.; Hewitt, Stephen M.; Zbar, Berton; Linehan, W. Marston; Merino, Maria J.

In: American Journal of Surgical Pathology, Vol. 26, No. 12, 12.2002, p. 1542-1552.

Research output: Contribution to journalArticle

Pavlovich, C, Walther, MM, Eyler, RA, Hewitt, SM, Zbar, B, Linehan, WM & Merino, MJ 2002, 'Renal tumors in the Birt-Hogg-Dubé syndrome', American Journal of Surgical Pathology, vol. 26, no. 12, pp. 1542-1552. https://doi.org/10.1097/00000478-200212000-00002
Pavlovich, Christian ; Walther, McClellan M. ; Eyler, Robin A. ; Hewitt, Stephen M. ; Zbar, Berton ; Linehan, W. Marston ; Merino, Maria J. / Renal tumors in the Birt-Hogg-Dubé syndrome. In: American Journal of Surgical Pathology. 2002 ; Vol. 26, No. 12. pp. 1542-1552.
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abstract = "Birt-Hogg-Dub{\'e} (BHD) syndrome is an autosomal dominant genodermatosis characterized by the development of small dome-shaped papules on the face, neck, and upper trunk (fibrofolliculomas). In addition to these benign hair follicle tumors, BHD confers an increased risk of renal neoplasia and spontaneous pneumothorax. To date, there has been no systematic pathologic analysis of the renal tumors associated with this syndrome. We reviewed 130 solid renal tumors resected from 30 patients with BHD in 19 different families. Preoperative computed tomography scans demonstrated a mean of 5.3 tumors per patient (range 1-28 tumors), the largest tumors averaging 5.7 cm in diameter (± 3.4 cm, range 1.2-15 cm). Multiple and bilateral tumors were noted at an early age (mean 50.7 years). The resected tumors consisted predominantly of chromophobe renal cell carcinomas (44 of 130, 34{\%}) or of hybrid oncocytic neoplasms that had areas reminiscent of chromophobe renal cell carcinoma and oncocytoma (65 of 130, 50{\%}). Twelve clear cell (conventional) renal carcinomas (12 of 130, 9{\%}) were diagnosed in nine patients. These tumors were on average larger (4.7 ± 4.2 cm) than the chromophobe (3.0 ± 2.5 cm) and hybrid tumors (2.2 ± 2.4 cm). Microscopic oncocytosis was found in the renal parenchyma of most patients, including the parenchyma of five patients with evidence of clear cell renal cell carcinoma. Our findings suggest that microscopic oncocytic lesions may be precursors of hybrid oncocytic tumors, chromophobe renal cell carcinomas, and perhaps clear cell renal cell carcinomas in patients with BHD syndrome. Recognition by the pathologist of the unusual renal tumors associated with BHD may assist in the clinical diagnosis of the syndrome.",
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