title: Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome.
abstract: 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.
authors.affiliation: 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.
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Benusiglio
authors.affiliation: Laboratoire de Génétique Oncologique EPHE, INSERM U753, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre et Gustave Roussy Cancer Campus, Villejuif, 94276, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Gad
authors.affiliation: Département de Médecine Oncologique, Gustave Roussy Cancer Campus, Villejuif, 94805, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Massard
authors.affiliation: Département de Médecine Oncologique, Gustave Roussy Cancer Campus, Villejuif, 94805, France.
authors.forename: Edith
authors.initials: E
authors.lastname: Carton
authors.affiliation: Service d'Anatomie Pathologique, Hôpital Foch, Suresnes, 92151, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Longchampt
authors.affiliation: Laboratoire de Génétique Oncologique EPHE, INSERM U753, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre et Gustave Roussy Cancer Campus, Villejuif, 94276, France.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Faudot
authors.affiliation: Département de Génétique Moléculaire, Hôpital Bichat - Claude Bernard, AP-HP, Paris, 75018, France.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Lamoril
authors.affiliation: Centre Expert National Cancers Rares PREDIR, Hôpital Bicêtre, AP-HP, Le Kremlin Bicêtre, 94275, France.|Service d'Anatomie Pathologique, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre, 94275, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Ferlicot