Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

Paul C Johannesma,Erik Thunnissen,Rinze Reinhard,R Jeroen A Van Moorselaar,Janhein T M Van Waesberghe,Arjan C Houweling,Fred H Menko,I Van De Beek,Theo M Starink,Pieter E Postmus,Johan J P Gille

doi:10.1007/s10689-015-9853-5

Abstract

Renal cell cancer (RCC) represents 2–3 % of all cancers and is the most lethal of the urologic malignancies, in a minority of cases caused by a genetic predisposition. Birt–Hogg–Dubé syndrome (BHD) is one of the hereditary renal cancer syndromes. As the histological subtype and clinical presentation in BHD are highly variable, this syndrome is easily missed. Lung cysts—mainly under the main carina—are reported to be present in over 90 % of all BHD patients and might be an important clue in differentiating between sporadic RCC and BHD associated RCC. We conducted a retrospective study among patients diagnosed with sporadic RCC, wherein we retrospectively scored for the presence of lung cysts on thoracic CT. We performed FLCN mutation analysis in 8 RCC patients with at least one lung cysts under the carina. No mutations were identified. We compared the radiological findings in the FLCN negative patients to those in 4 known BHD patients and found multiple basal lung cysts were present significantly more frequent in FLCN mutation carriers and may be an indication for BHD syndrome in apparent sporadic RCC patients.

Highlights

Renal cell carcinoma (RCC) represents 2–3 % of all cancers and is the most lethal of the urologic malignancies
Based on the reported increased presence of multiple lung cysts under the carina in BHD patients we performed FLCN mutation analysis in a pilot study setting among 8 patients with a history of Renal cell cancer (RCC) and one or more lung cysts in the basal parts of the lung on thoracic CT
We found that multiple basal lung cysts were present significantly more frequent in FLCN mutation carriers and may be an indication for further evaluation of BHD syndrome in apparently sporadic RCC patients

Summary

Introduction

Renal cell carcinoma (RCC) represents 2–3 % of all cancers and is the most lethal of the urologic malignancies. There has been an annual increase about 2 % in the incidence, with 88,400 new cases of RCC worldwide in 2008 [1]. Over 50 % of RCC are detected incidentally, as only a minority (6–10 %) of patients present with the classic triad; flank pain, gross haematuria and palpable abdominal mass [3]. These data underline the value of pre symptomatic identification and screening of patients with an increased risk for RCC.

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Results

Conclusion