Wang Wenda, Zhao Yang, Wang Xu, Wang Zhan, Cai Yi, Li Hanzhong, Zhang Yushi
Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Department of Urology, Beijing, China.
Central South University, Xiangya Hospital, Department of Urology, Changsha City, China.
Genet Mol Biol. 2022 May 27;45(2):e20200387. doi: 10.1590/1678-4685-GMB-2020-0387. eCollection 2022.
We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Seventy-three probands among TSC patients with renal lesions were included. Twenty affected relatives were also included. In total, 93 patients were included. Eighty patients (86.0%) had bilateral renal angiomyolipomas (AMLs), and one had epithelioid AML. Two patients had polycystic kidney disease, one had renal cell carcinoma, and one had Wilms tumor. Among the 73 probands, four had TSC1 mutations, 53 had TSC2 mutations, and 16 had no mutations identified (NMI). There was no statistically significant difference between TSC1 mutation, TSC2 mutation and NMI group (P= 0.309), or between familial and sporadic groups (P= 0.775) when considering AML size. There was no statistically significant difference between pathogenic/likely pathogenic and benign/likely benign/NMI groups (P= 0.363) or among patients with different mutation types of TSC2 (P= 0.906). The relationship between the conditions of TSC gene mutations and the severity of renal lesions still needs more analysis. Patients with NMI, particularly those with familial disease, need more attention because the pathogenesis remains unknown.
我们试图探究结节性硬化症（TSC）患者的肾脏病变特征与基因突变之间的关系。对患有肾脏病变的TSC患者进行TSC1/2基因二代测序（NGS）。筛选TSC1/2突变类型及影像学检查结果，以综合分析基因与临床特征。纳入了73例患有肾脏病变的TSC先证者。还纳入了20例受影响的亲属。总共纳入93例患者。80例患者（86.0%）患有双侧肾血管平滑肌脂肪瘤（AML），1例患有上皮样AML。2例患者患有多囊肾病，1例患有肾细胞癌，1例患有肾母细胞瘤。在73例先证者中，4例有TSC1突变，53例有TSC2突变，16例未检测到突变（NMI）。考虑AML大小时，TSC1突变组、TSC2突变组与NMI组之间无统计学显著差异（P = 0.309），家族性组与散发性组之间也无统计学显著差异（P = 0.775）。致病/可能致病组与良性/可能良性/NMI组之间无统计学显著差异（P = 0.363），TSC2不同突变类型的患者之间也无统计学显著差异（P = 0.906）。TSC基因突变情况与肾脏病变严重程度之间的关系仍需更多分析。NMI患者，尤其是家族性疾病患者，需要更多关注，因为其发病机制尚不清楚。
