Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy

• Published in: Scientific reports Vol. 9; no. 1; pp. 14337 - 11
• Main Authors: Ni, Jianxin, Yan, Fengqi, Qin, Weijun, Yu, Lei, Zhang, Geng, Liu, Fei, Yang, Xiaojian, Yang, Bo, Hao, Chunlin, Wang, Teng, Liu, Pengfei, Yuan, Jianlin, Wu, Guojun
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 04.10.2019; Nature Publishing Group
• Subjects: 45/23; 59/57; 59/78; 692/4022/1585; 692/4025/2021; Adolescent; Adult; Aged; Angiomyolipoma; Angiomyolipoma - drug therapy; Angiomyolipoma - genetics; Antineoplastic Agents - administration & dosage; Antineoplastic Agents - adverse effects; China; DNA Mutational Analysis; Dose-Response Relationship, Drug; Drug Administration Schedule; Everolimus - administration & dosage; Everolimus - adverse effects; Female; Frequency distribution; Genetic screening; Humanities and Social Sciences; Humans; Inhibitor drugs; Kidney Neoplasms - drug therapy; Kidney Neoplasms - genetics; Kidneys; Male; Middle Aged; multidisciplinary; Mutation; Mutation Rate; Mutation rates; Patients; Science; Science (multidisciplinary); Short term; Statistical analysis; Targeted cancer therapy; Treatment Outcome; TSC1 gene; TSC2 gene; Tuberous sclerosis; Tuberous Sclerosis - complications; Tuberous Sclerosis - genetics; Tumor Burden - drug effects; Young Adult; China

To identify clinical characteristics and mutation spectra in Chinese patients with renal angiomyolipoma (AML) associated with the tuberous sclerosis complex (TSC, TSC-AML), examined the efficacy and safety of short-term everolimus therapy (12 weeks). We analyzed the frequency distribution of each TS...