成年结节性硬化症相关的肾血管平滑肌脂肪瘤患者外周血DNA测序的价值

目的:评估成年结节性硬化症相关的肾血管平滑肌脂肪瘤患者外周血DNA测序的价值.方法:分析2015年09月至2019年09月因双肾多发血管平滑肌脂肪瘤就诊于我院的所有患者的病史、家族史及辅助检查,提取符合结节性硬化症诊断标准的患者外周血DNA,通过二代测序检测TSC1与TSC2基因.结果:纳入研究的患者共47例,检测出T...

Value of DNA sequencing in peripheral blood of adult patients with tuberous sclerosis complex-renal angiomyolipoma

Objective:To evaluate the value of DNA sequencing in peripheral blood of adult patients with tuberous sclerosis complex-renal angiomyolipoma.Methods:To analyze the history,family history and auxiliary examination of all patients who were hospitalized in our hospital from September 2015 to September 2019 due to multiple renal angiomyolipomas,extract the peripheral blood DNA of patients who meet the diagnostic criteria of tuberous sclerosis complex,and detect the TSC1 and TSC2 genes by next-generation Sequencing.Results:A total of 47 patients were included in the study,and 22 patients(46.8%)detected mutations in the TSC1/2 gene.Among patients with mutations detected,the proportion of the largest renal angiomyolipomas exceeding 8 cm in diameter was significantly higher than that of those not exceeding,and the difference was statistically significant(P<0.05).26 mutation sites were detected in the mutant patients,and the main mutation type was missense mutation,of which 13 were not reported.Conclusion:TSC1/2 gene mutation may not be detected in a large proportion of peripheral blood DNA sequencing of adult patients with tuberous sclerosis complex-renal angiomyolipoma,and it is easier to detect mutations in peripheral blood DNA of patients with severe renal angiomyolipoma.A large proportion of adult patients with tuberous sclerosis complex-renal angiomyolipoma may be chimeras with somatic mutations.Gene sequencing can not only extract DNA samples from their peripheral blood.