Medicine (Baltimore) 2016 May;95(22):e3695
From the Department of Thyroid and Neck Tumor, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, and Oncology Key Laboratory of Cancer Prevention and Therapy (LD, MG, W-JH, X-QZ, Y-GL, YY), Tianjin, China; and Department of Neuro-Oncology (X-LL), University of Texas MD Anderson Cancer Center, Houston, TX.
Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Read More