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Revista Mexicana de Urología

Organo Oficial de la Sociedad Mexicana de Urología
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2012, Number 6

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Rev Mex Urol 2012; 72 (6)

Renal tumor associated with Birt-Hogg-Dubé syndrome: presentation of a clinical case

Monges-Jones JE, González-Jáuregui DF, Sánchez-González JA, Meza-Díaz R, Carrera-Muńoz A, González-Acosta J
Full text How to cite this article

Language: Spanish
References: 13
Page: 293-296
PDF size: 305.17 Kb.


Key words:

Renal cancer, Birt-Hogg-Dubé syndrome, spontaneous pneumothorax, Mexico.

ABSTRACT

Renal cancer represents 3% of malignant tumors. Its presentation can be sporadic or hereditary. One of the hereditary presentations is renal oncocytoma, which is associated with Birt-Hogg-Dubé syndrome (BHDS). This syndrome presents with cutaneous lesions (fibrofolliculoma, trichodiscoma), renal tumors, and pulmonary alterations (cysts, spontaneous pneumothorax).
A 16-year-old female patient had disease onset in June 2010 with moderate pain in the right iliac fossa. Physical examination revealed fibrofollicular lesions on the cheeks and a tumor in the right renal fossa that was firm, mobile, and painless when palpated.
Computerized axial tomography (CAT) scan of the abdomen identified a renal tumor. Right radical nephrectomy was performed. The histopathologic diagnosis was renal cancer.
A control thoracic CAT scan was carried out when the patient presented with left hydropneumothorax, for which a pleural catheter was placed.


REFERENCES

  1. Linehan WM, Pinto PA, Bratslavsky G, et al. Hereditary Kidney Cancer: Unique Opportunity for Disease-Based Therapy. Cancer 2009;115(10 Suppl):2252-2261.

  2. Morrison PJ, Donnelly DE, Atkinson AB, et al. Advances In The Genetics Of Familial Renal Cancer. Oncologist 2010;15(6):532-538.

  3. Menko FH, van Steensel MAM, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009;10(12):1199-1206.

  4. Kunogi M, Kurihara M, Shigihara Ikegami T, et al. Clinical and genetic spectrum of Birt-Hogg-Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010;47(4):281-287.

  5. Frohlich BA, Zeitz C, Matyas G, et al. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J 2008;32(5):1316-1320.

  6. Misago N, Joh K, Yatsuki H, et al. A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome. Acta Derm Venereol 2008;88(4):423-425.

  7. Toro JR, Wei M-H, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008;45(6):321-331.

  8. Khoo SK, Bradley M, Wong FK, et al. Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 2001;20(37):5239-5242.

  9. Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11 2. Am J Hum Genet 2001;69(4):876-882.

  10. Nickerson ML, Warren MB, Toro JR, et al. 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-Dubé syndrome. Cancer Cell 2002;2(2):157-164.

  11. Pavlovich CP, Walther MM, Eyler RA, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol 2002;26(12):1542- 1552.

  12. Walther MM, Choyke PL, Glenn G, et al. Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery. J Urol 1999;161(5):1475-1479.

  13. Butnor KJ, Guinee DG. Pleuropulmonary pathology of Birt-Hogg- Dubé syndrome. Am J Surg Pathol 2006;30(3):395-399.




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Rev Mex Urol. 2012;72