title: The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
abstract: Angiomyolipomas (AMLs) are relatively rare hamartomatous or benign tumors that occasionally occur as part of tuberous sclerosis complex (TSC). Mutations in either of the two genes, TSC1 and TSC2, have been attributed to the development of TSC. Between 1994 and January 2009, 83 patients were diagnosed with AML at the Samsung Medical Center. In that group of patients, 5 (6%) had AML with TSC (AML-TSC). Mutational analysis of the TSC2 gene was performed using 7 samples from the 5 AML-TSC patients and 14 samples from 14 patients with sporadic AML without TSC (AML-non-TSC). From this analysis, mutations in TSC genes were identified in 5 samples from the AML-TSC patients (mutation detection rate=71%) and 3 samples from AML-non-TSC patients (mutation detection rate=21%). In the case of AML-TSC, 6 mutations were found including 3 recurrent mutations and 3 novel mutations, while in the case of AML-non-TSC, 4 mutations were identified once, including 1 novel mutation. Also MLPA analysis of the TSC2 gene showed that TSC2 exon deletion is more frequently observed in AML-TSC patients than in AML-non-TSC patients. This is the first mutation and multiplex ligation-dependent probe amplification (MLPA) analyses of TSC2 in Korean AMLs that focus on TSC. This study provides data that are representative of the distribution of mutations and exon deletions at TSC genes in clinically diagnosed AML-TSC cases of the Korean population.
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Heung-Mo
authors.initials: HM
authors.lastname: Yang
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Hye-Jung
authors.initials: HJ
authors.lastname: Choi
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Doo-Pyo
authors.initials: DP
authors.lastname: Hong
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea; Samsung Advanced Institute for Health Sciences & Technology, Graduate School, Department of Health Sciences & Technology, Sungkyunkwan University, Republic of Korea.
authors.forename: Sung-Yeon
authors.initials: SY
authors.lastname: Joo
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea; Samsung Advanced Institute for Health Sciences & Technology, Graduate School, Department of Health Sciences & Technology, Sungkyunkwan University, Republic of Korea.
authors.forename: Na-Eun
authors.initials: NE
authors.lastname: Lee
authors.affiliation: Laboratory of Cancer Genomics and Molecular Pathology, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Song
authors.affiliation: Department of Pathology, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Sarcoma Research Center, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Yoon-La
authors.initials: YL
authors.lastname: Choi
authors.affiliation: Department of Hematological oncology, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Sarcoma Research Center, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Jeeyun
authors.initials: J
authors.lastname: Lee
authors.affiliation: Department of Radiology, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Sarcoma Research Center, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: Dongil
authors.initials: D
authors.lastname: Choi
authors.affiliation: Department of Radiation Oncology, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Sarcoma Research Center, Samsung Medical Center, Seoul, Republic of Korea.
authors.forename: BoKyung
authors.initials: B
authors.lastname: Kim
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea; Department of Surgery, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Hyo-Jun
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea; Department of Surgery, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: jaeberm.park@samsung.com.
authors.forename: Jae-Berm
authors.initials: JB
authors.lastname: Park
authors.affiliation: Transplantation Research Center, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Republic of Korea; Department of Surgery, Samsung Medical Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Sarcoma Research Center, Samsung Medical Center, Seoul, Republic of Korea. Electronic address: kmhyj.kim@samsung.com.
authors.forename: Sung Joo
authors.initials: SJ
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D018207:Angiomyolipoma / Q000235:genetics*; D000818:Animals; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D056910:Republic of Korea; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
keywords: Angiomyolipoma; Exon deletion; Mutation; TSC2 gene; Tuberous sclerosis complex