New BHD case reports and FLCN mutations

Demir et al. (2016) report the case of an 18-year-old male in Turkey with a history of recurrent pneumothorax, the first one occurring at age 10 years. The patient also had in his family history episodes of spontaneous pneumothorax. Chest CT scans detected several pulmonary cysts that, together with the family history, led to the diagnosis of Birt-Hogg-Dubé syndrome (BHD) which was confirmed by genetic testing.

Dong et al. (2016) report the case of two ~40-year-old male patients with skin lesions, renal cell carcinoma (RCC) and papillary thyroid cancer (PTC). Genetic analysis was performed to both patients to confirm BHD diagnosis. Sanger sequencing was performed and 8 mutations were detected in the FLCN gene of the two patients. The missense mutations (c.1481A>G and c.1645C>G) were not reported previously. The mutations were predicted to be disease-causing or affect protein function by MutationTaster and SIFT.  Even though there is not enough information about the association between BHD and thyroid cancer the group suggests that total thyroidectomy and central compartment neck dissection may be suitable for thyroid cancer patients with BHD and recommend neck ultrasound for BHD patients and their families. This report is freely available to download in the BHD Article Library: Clinical section.

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