• Patrick R Benusiglio, Sophie Giraud, Sophie Deveaux, Arnaud Méjean, Jean-Michel Correas, Dominique Joly, Marc-Olivier Timsit, Sophie Ferlicot, Virginie Verkarre, Caroline Abadie, Dominique Chauveau, Dominique Leroux, Marie-Françoise Avril, Jean-François Cordier, Stéphane Richard, and French National Cancer Institute Inherited Predisposition to Kidney Cancer Network.
• Centre Expert National Cancers Rares PREDIR, Hôpital Bicêtre, AP-HP, Batiment Lasjaunias, 78 rue du Général Leclerc, Le Kremlin Bicêtre, 94275, France. pbenusiglio.wk@gmail.com.
• Orphanet J Rare Dis. 2014 Jan 1; 9: 163.

BackgroundThe Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. Our objective was to report renal tumour characteristics in a large series of patients with the Birt-Hogg-Dubé syndrome.MethodsWe studied French Birt-Hogg-Dubé patients with a history of renal tumour.ResultsWe included 33 patients with 21 distinct germline FLCN mutations. Median age at diagnosis of first renal tumour was 46, and age varied from 20 to 83. Twenty cases had one renal tumour, the remainder had two or more tumours. Most cases (23/33, 70%) had oncocytoma or renal cell carcinoma of the chromophobe or hybrid chromophobe-oncocytoma type, three had clear cell carcinoma (9%), and the other seven had carcinoma of papillary, undifferentiated or undetermined histology. Four cases had metastatic disease, although none died of it.ConclusionsAge at renal tumour diagnosis was highly variable, highlighting the need for regular surveillance from young adulthood to old age. Most cases had tumour types classically associated with Birt-Hogg-Dubé, i.e. oncocytoma or renal cell carcinoma of the chromophobe or hybrid type. Nevertheless, 9% had clear cell renal cell carcinoma. Geneticists, urologists and oncologists should therefore be alert to the possibility of Birt-Hogg-Dubé in patients with renal cell carcinoma of clear cell histology, especially if there are associated manifestations. Finally, the behaviour of metastatic carcinoma seemed more indolent than in sporadic renal cancers.

27 keywords...

hide…