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F1000Res. 2014 Jul 11;3:159. doi: 10.12688/f1000research.4205.1. eCollection 2014.

Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome.

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Centre Expert National Cancers Rares PREDIR, Hôpital Bicêtre, AP-HP, Le Kremlin Bicêtre, 94275, France.
Département de Médecine Oncologique, Gustave Roussy Cancer Campus, Villejuif, 94805, France.
Laboratoire de Génétique Oncologique EPHE, INSERM U753, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre et Gustave Roussy Cancer Campus, Villejuif, 94276, France.
Service d'Anatomie Pathologique, Hôpital Foch, Suresnes, 92151, France.
Département de Génétique Moléculaire, Hôpital Bichat - Claude Bernard, AP-HP, Paris, 75018, France.
Service d'Anatomie Pathologique, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre, 94275, France.
Contributed equally


Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention.

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