Abstract：
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant tumor syndrome caused by Folliculin (FLCN) gene mutation. The clinical manifestations are diverse, and the renal tumor is the most serious.
METHODS: We report the case of a 51-year-old female with multiple space-occupying lesions in both kidneys, as well as bilateral renal cysts and multiple lung cysts. The resected tumors were finally diagnosed as bilateral renal hybrid oncocytic/chromophobe tumor (HOCT) and unilateral chromophobe cell carcinoma. A history of pneumothorax surgery 4 years ago was convinced. All of these strongly suggested the possibility of BHD syndrome. Gene test confirmed a heterozygous germline FLCN nonsense mutation (c.1429C > T, p.Arg477Ter). The patient is still doing well after 20 months of follow-up (cut-off date July 2022).
CONCLUSIONS: This is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple lung cysts, and confirmed by gene testing. Patients with any combination of one or more of the manifestations should remain alert to the BHD syndrome. Our report will help to deepen the understanding of the clinicopathological features and molecular changes of BHD syndrome.
METHODS: We report the case of a 51-year-old female with multiple space-occupying lesions in both kidneys, as well as bilateral renal cysts and multiple lung cysts. The resected tumors were finally diagnosed as bilateral renal hybrid oncocytic/chromophobe tumor (HOCT) and unilateral chromophobe cell carcinoma. A history of pneumothorax surgery 4 years ago was convinced. All of these strongly suggested the possibility of BHD syndrome. Gene test confirmed a heterozygous germline FLCN nonsense mutation (c.1429C > T, p.Arg477Ter). The patient is still doing well after 20 months of follow-up (cut-off date July 2022).
CONCLUSIONS: This is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple lung cysts, and confirmed by gene testing. Patients with any combination of one or more of the manifestations should remain alert to the BHD syndrome. Our report will help to deepen the understanding of the clinicopathological features and molecular changes of BHD syndrome.
摘要：
背景：Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体显性遗传肿瘤综合征，由Folliculin（FLCN）基因突变引起。临床表现多样,肾肿瘤是最严重的.
方法：我们报告一例51岁女性，双肾有多个占位性病变，以及双侧肾囊肿和多发性肺囊肿。切除的肿瘤最终诊断为双侧肾杂合嗜酸细胞/嫌色细胞肿瘤（HOCT）和单侧嫌色细胞癌。4年前气胸手术史被证实。所有这些都强烈暗示了BHD综合征的可能性。基因测试证实了杂合种系FLCN无义突变（c.1429C>T，p.Arg477Ter)。经过20个月的随访（截止日期为2022年7月），患者仍表现良好。
结论：这是一例BHD综合征伴双侧肾肿瘤，肾囊肿,和多个肺囊肿,并通过基因检测证实。具有一种或多种表现的任何组合的患者应保持对BHD综合征的警惕。我们的报告将有助于加深对BHD综合征临床病理特征和分子改变的认识。
方法：我们报告一例51岁女性，双肾有多个占位性病变，以及双侧肾囊肿和多发性肺囊肿。切除的肿瘤最终诊断为双侧肾杂合嗜酸细胞/嫌色细胞肿瘤（HOCT）和单侧嫌色细胞癌。4年前气胸手术史被证实。所有这些都强烈暗示了BHD综合征的可能性。基因测试证实了杂合种系FLCN无义突变（c.1429C>T，p.Arg477Ter)。经过20个月的随访（截止日期为2022年7月），患者仍表现良好。
结论：这是一例BHD综合征伴双侧肾肿瘤，肾囊肿,和多个肺囊肿,并通过基因检测证实。具有一种或多种表现的任何组合的患者应保持对BHD综合征的警惕。我们的报告将有助于加深对BHD综合征临床病理特征和分子改变的认识。
