Fetiform teratoma was a parthenogenetic tumour arising from a mature ovum
Fetiform teratoma was a parthenogenetic tumour arising from a mature ovum
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胎状畸胎瘤是一种由成熟卵子产生的孤雌生殖肿瘤
DOI：
10.1038/jhg.2017.45
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发表时间：
2017
影响因子：
3.5
通讯作者：
Yoshiura KI and Masuzaki H
中科院分区：
文献类型：
--
作者：
Miura K;Kurabayashi T;Satoh C;Sasaki K;Ishiguro T;Yoshiura KI and Masuzaki H
本研究的目的是通过分子遗传学研究和甲基化状态分析来探讨畸形畸胎瘤的孤雌生殖起源。从一名35岁无孕妇女身上切除了畸胎瘤。对IGF2-H19基因座进行了微卫星标记位点基因分型、单核苷酸多态性（SNP）位点微阵列分析和差异甲基化区（DMR）甲基化状态分析。宿主和畸胎瘤的核型分别为46、XX。该畸胎瘤的所有位点均为纯合子，并通过SNP微阵列分析证实了肿瘤的减数分裂重组。甲基化分析表明，宿主有甲基化和未甲基化的IGF2-H19 DMR等位基因，而畸胎瘤只有未甲基化的等位基因。遗传上，畸胎瘤具有纯合子基因型，具有减数分裂重组和复制的未甲基化宿主等位基因，表明它是在减数分裂II后由成熟卵子产生的孤雌生殖肿瘤。这是来自成熟的单倍体卵子的畸胎瘤的第一个证明。
The aim of this study was to investigate the parthenogenetic origin of fetiform teratoma by using molecular genetic studies and methylation status analyses. A fetiform teratoma was removed from a 35-year-old nulligravida woman. Genotyping of microsatellite marker loci, microarray analysis of single-nucleotide polymorphism (SNP) loci and methylation status analysis of the differentially methylated region (DMR) within the human IGF2-H19 locus were performed. Karyotypes of the host and the fetiform teratoma were 46, XX. The fetiform teratoma was homozygous at all loci and meiotic recombinations in the tumor were confirmed by SNP microarray analysis. Methylation analysis indicated that the host had both methylated and unmethylated IGF2-H19 DMR alleles, while the fetiform teratoma had unmethylated alleles only. Genetically, the fetiform teratoma had homozygous genotypes with meiotic recombination and a duplicated unmethylated host allele, indicating that it was a parthenogenetic tumor arising from a mature ovum after meiosis II. This is the first demonstration of a fetiform teratoma originating from a mature haploid ovum.