Advertisement

Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report

Abstract

Objectives

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS.

Case presentation

Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons. Definitive histologic examination were as follows: multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. After about a year, the patient was again subjected to resection of multiple renal tumors left. Histological examination proved that it was multifocal renal cell carcinoma, clear cell varieties. The genome analysis highlighted positive for mutation c. 1379_1380 of FLCN gene, BHDS gene. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides. Instead, the abdominal CT was positive for a small round lesion 6 mm exophytic.

Conclusions

The BHDS is a rare syndrome whose management is extremely complex both in terms of oncological and functional. Kidney tumors associated with BHDS usually have a favorable clinical course. Present evidence suggests a close follow-up of the carriers of the genetic mutation patients whether or not they have expressed the lesions of disease given the high rate of recurrence of renal lesions.

Urologia 2017; 84(2): 116 - 120

Article Type: CASE REPORT

DOI:10.5301/uro.5000207

Authors

Roberto Castellucci, Michele Marchioni, Sergio Valenti, Giuseppe Sortino, Giulio Borgonovo, Nicola Pesenti, Alberto C.A. Vismara, Maria C. Circo, Barbara Sessa, Emanuele Micheli, Antonino Lembo

Article History

Disclosures

Financial support: The authors received no financial support for the research.
Conflict of interest: The authors declare that there are no conflicts of interest.

This article is available as full text PDF.

  • If you are a Subscriber, please log in now.

  • Article price: Eur 36,00
  • You will be granted access to the article for 72 hours and you will be able to download any format (PDF or ePUB). The article will be available in your login area under "My PayPerView". You will need to register a new account (unless you already own an account with this journal), and you will be guided through our online shop. Online purchases are paid by Credit Card through PayPal.
  • If you are not a Subscriber you may:
  • Subscribe to this journal
  • Unlimited access to all our archives, 24 hour a day, every day of the week.

Authors

Affiliations

  • Department of Urology, Humanitas Gavazzeni Hospital, Bergamo - Italy
  • Department of Urology, SS. Annunziata Hospital, “G. D’Annunzio” University of Chieti, Chieti - Italy
  • Azienda Ospedaliera per l’Emergenza “Cannizzaro”, Catania - Italy
  • Department of Radiology, “Papa Giovanni XXIII” Hospital, Bergamo - Italy

Article usage statistics

The blue line displays unique views in the time frame indicated.
The yellow line displays unique downloads.
Views and downloads are counted only once per session.

No supplementary material is available for this article.