title: Absence ofDICER1, CTCF, RPL22, DNMT3A, TRRAP, IDH1andIDH2hotspot mutations in patients with various subtypes of ovarian carcinomas.
abstract: Cancer is caused by multiple genetic alterations within cells. Recently, large-scale sequencing has identified frequent ribonuclease type III (DICER1), CCCTC-binding factor (CTCF), ribosomal protein L22 (RPL22), DNA (cytosine-5-)-methyltransferase 3α (DNMT3A), transformation/transcription domain-associated protein (TRRAP), isocitrate dehydrogenase (IDH)1 andIDH2hotspot mutations in diverse types of cancer. However, it remains largely unknown whether these mutations also exist in ovarian carcinomas. In the present study, a collection of 251 patients with distinct subtypes of ovarian carcinomas were recruited and sequenced for the presence of these hotspot mutations. However, no mutations in the seven genes were detected in the samples. These negative results, together with certain recent reports, indicate that the hotspot mutations in theCTCF, RPL22, DNMT3A, TRRAP, IDH1andIDH2genes may not be actively involved in the carcinogenesis of ovarian carcinoma. Of note, theDICER1mutation frequency in Sertoli-Leydig cell tumor in the present study was significantly lower compared to prior observation, and therefore, it is speculated that this discrepancy may be mainly due to the small sample size analyzed in the study. In addition, among these samples, frequent polymerase (DNA directed) ε, catalytic subunit (POLE1) and ring finger protein 43 (RNF43) mutations were identified in endometrioid and mucinous ovarian carcinomas, respectively; thusDICER1, CTCF, RPL22, DNMT3A, TRRAP, IDH1andIDH2hotspot mutations may not play synergistic roles withPOLE1orRNF43mutations in the carcinogenesis of endometrioid or mucinous ovarian carcinomas.
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Zou
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China ; Graduate School of Nanchang University, Nanchang, Jiangxi 330031, P.R. China.
authors.forename: Mei-Zhen
authors.initials: MZ
authors.lastname: Huang
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China.
authors.forename: Fa-Ying
authors.initials: FY
authors.lastname: Liu
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China.
authors.forename: Bi-Cheng
authors.initials: BC
authors.lastname: Yang
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China.
authors.forename: Li-Qun
authors.initials: LQ
authors.lastname: Wang
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China.
authors.forename: Feng
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Pathology, Jiangxi Provincial Maternal and Child Health Hospital, P.R. China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Yu
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wan
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China.
authors.forename: Xi-DI
authors.initials: XD
authors.lastname: Wan
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China ; Graduate School of Nanchang University, Nanchang, Jiangxi 330031, P.R. China.
authors.forename: Xiao-Yun
authors.initials: XY
authors.lastname: Xu
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China ; Graduate School of Nanchang University, Nanchang, Jiangxi 330031, P.R. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.affiliation: Key Laboratory of Women's Reproductive Health of Jiangxi Province, P.R. China ; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China.
authors.forename: Ou-Ping
authors.initials: OP
authors.lastname: Huang
authors.affiliation: Department of Pharmacology and Molecular Therapeutics, Nanchang University School of Pharmaceutical Science, Nanchang, Jiangxi 330006, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: He
keywords: absence; hotspot mutations; ovarian carcinoma