HLRCC综合征合并Ⅳ级下腔静脉癌栓一例报告  

A case report of HLRCC syndrome combined Ⅳ inferior vena cava tumor thrombus

作　　者：李克好 杜元程 张学平 刘长青[2] 葛莉 李永响[2] 乔梁[2] Li Kehao;Du Yuancheng;Zhang Xueping;Liu Changqing;Ge Li;Li Yongxiang;Qiao Liang(Department of Clinic,Weifang Medical University,Weifang 261053,China;Department of Urology,Weifang People's Hospital,Weifang 261041,China)

机构地区：[1]潍坊医学院临床医学院,山东潍坊261053 [2]潍坊市人民医院泌尿外科,山东潍坊261041

出　　处：《中华泌尿外科杂志》2021年第10期782-783,共2页Chinese Journal of Urology

摘　　要：遗传性平滑肌瘤和肾细胞癌(HLRCC)综合征是一种罕见的遗传性疾病,其特征是皮肤平滑肌瘤、子宫平滑肌瘤和(或)肾细胞癌,合并腔静脉癌栓者罕见。我院2020年7月收治1例HLRCC综合征合并Ⅳ级下腔静脉癌栓的患者,基因检测明确诊断后,患者及家属拒绝进一步治疗,出院后2个月死亡。Hereditary leiomyomatosis and renal cell cancer(HLRCC)syndrome is a rare hereditary disease and characterized by cutaneous leiomyoma,uterine leiomyoma and/or renal cell carcinoma,but rarely associated with vena cava embolism.We treated 1 case of HLRCC syndrome patients with inferior vena cava tumor emboli(Mayo gradeⅣ),confirmed after genetic testing,the patient and her family refused further treatment.The patient died after two months of follow-up after discharge.

关 键 词：癌 肾细胞 遗传性平滑肌瘤 FH基因突变 

分 类 号：R737.11[医药卫生—肿瘤]