title: Genetic analysis results of mature cystic teratomas of the ovary in Taiwan disagree with the previous origin theory of this tumor.
abstract: The most accepted theory regarding mature cystic teratomas of the ovary is that they are of parthenogenetic origin from oocyte after the completion of first division. Our previous study demonstrated that the origin of mature cystic teratoma of the uterus is not related to the parthenogenetic process, but is most likely pluripotential stem cell or primordial germ cell before meiosis I. Further studies are needed to clarify the origin of benign mature cystic teratomas of the ovary in Taiwan. In the present study, we investigated the DNA profiles of 9 mature cystic teratomas of the ovary using short tandem repeat analysis with AmpFLSTR SGM Plus, Profiler PCR amplification kits. The methylation statuses of the HhaI sites in the SNRPN, H19DMR, and KvDMR regions were determined on methylation-sensitive multiplex ligation-dependent probe amplification analysis. DNA profiling data from the 9 mature cystic teratomas of the ovary excluded parthenogenetic origin, as most of the 15 short tandem repeat loci were heterozygous on genotyping. There were varying degrees of hypermethylation of SNRPN gene and KvDMR locus in the presence of maternal uniparental disomy in all 9 mature cystic teratomas of the ovary. In light of these results, we further postulated that the origin of these mature cystic teratomas of the ovary is oogonia or primary oocyte before germinal vesicle stage failure of meiosis I.
authors.affiliation: Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung 402, Taiwan.
authors.forename: Wen-Chung
authors.initials: WC
authors.lastname: Wang
authors.affiliation: Department of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung 402, Taiwan. Electronic address: yenchein@csmu.edu.tw.
authors.forename: Yen-Chein
authors.initials: YC
authors.lastname: Lai
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics* / Q000473:pathology; D019175:DNA Methylation; D005260:Female; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D008540:Meiosis; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D018297:Neoplasms, Cystic, Mucinous, and Serous / Q000235:genetics* / Q000473:pathology; D009865:Oocytes / Q000473:pathology; D009867:Oogonia / Q000473:pathology; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D010312:Parthenogenesis; D010641:Phenotype; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D013624:Taiwan; D013724:Teratoma / Q000235:genetics* / Q000473:pathology; D024182:Uniparental Disomy; D055815:Young Adult; D055517:snRNP Core Proteins / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated; C526417:SNRPN protein, human; D055517:snRNP Core Proteins
keywords: Mature cystic teratoma; Meiosis; Multiplex ligation-dependent probe amplification analysis; Parthenogenesis; Short tandem repeat analysis