Abstract：Objective: To evaluate the value of the single strand conformation polymorphism (PCR-SSCP) and targeted second-generation sequencing (NGS) in genetic diagnosis of tuberous sclerosis complex (TSC) associated with renal angiomyolipoma (AML). Methods: From Jan. 2015 to June 2017, 47 TSC-AML patients and 32 sporadic AML patients from the PLA General Hospital were enrolled in this study, including 19 females and 60 males. The average age was 32.8 years old (ranging from 18 to 53). All patients were diagnosed as multiple bilateral renal AML and malignant epitheloid angiomyolipoma was found in two cases. TSC 1/2 gene was detected by PCR-SSCP and NGS. Results: The TSC 1/2 mutation rate was 83.5% (66/79) in PCR-SSCP, included 19 TSC1 mutations, 29 TSC2 mutations and 18 both TSC1 and TSC2 mutations. The mutation rate was 85.1% (40/47) in TSC-AML group and 81.3% (26/32) in sporadic AML group. There was no significant difference between two groups. The TSC 1/2 mutation rate was 49.4% (39/79) in NGS, including 16 TSC1 mutations. 31 TSC2 mutations and two both TSC1 and TSC2 mutations. The mutation rate was 72.3% (34/47) in TSC-AML and 15.6%(5/32) in sporadic AML group, and there was significant difference between two groups. Conclusions: Compared with PCR-SSCP, NGS had a higher accuracy for TSC 1/2 gene detection. The TSC1/2 gene mutation analysis was very important for the diagnosis and researches of TSC-AML.
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