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Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes, paucity of somatic mutations, and extensive allelic imbalances shared across mature, immature, and disseminated components

Modern Pathology Jan 16, 2020

Heskett MB, Sanborn JZ, Boniface C, et al. - A multiregion whole-exome sequencing was conducted to interrogate the genetic zygosity, clonal relationship, DNA copy number, and mutational status of 52 pathologically distinct tumor components from ten females with ovarian immature teratomas, with bilateral tumors present in five cases and peritoneal dissemination in seven cases. By 2N near-diploid genomes, they detected that ovarian immature teratomas are genetically characterized with extensive loss of heterozygosity and an absence of genes harboring repeated somatic mutations or known oncogenic variants. The data showed that copy-neutral loss of heterozygosity happening from meiotic abnormalities may be sufficient to generate ovarian immature teratomas from germ cells.
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