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Definitive classification of ovarian mature cystic teratomas origin using B allele frequency plots with SNP array analysis

ABSTRACT: Ovarian mature cystic teratomas (MCTs) originate from postmeiotic germ cells, and some are thought to result from the fusion of two ova. The aim of this study was to determine whether this mechanism is in fact involved in MCT development. MCTs can be classified by the zygosity of the centromere and distal chromosome regions. We evaluated the zygosity of all chromosomes from 38 MCT specimens using B allele frequency (BAF) plots of single nucleotide polymorphism-array data. Theoretically, MCTs originated from the fusion of two ova should have a mixed pattern of centromeric zygosity, i.e., a combination of heterozygous and homozygous regions. However, no MCTs in this series met this criterion as evidenced by BAF plots, suggesting that the fusion of two ova is not mechanistically involved in the development of ovarian teratomas. Thus, MCTs were classified into three types originating from meiosis I and meiosis II errors, and endoduplication of a mature ovum. The numbers of recombination events occurring with type I and II MCTs were somewhat higher than in regular oogenesis. In addition, BAF plots could facilitate the construction of recombination maps at the whole-genome level for type I and II MCTs. In conclusion, our findings provide evidence against the hypothesis that MCTs originate from the fusion of two ova and indicate that BAF plots could serve as useful analytical tools for analyzing MCT cytogenetics and human oocyte meiosis.

ORGANISM(S): Homo sapiens

PROVIDER: GSE85424 | GEO | 2018/07/22

REPOSITORIES: GEO

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