Genomic profiling of meiotic errors and early malignant transformation events in ovarian mature teratoma - PubMed
6 hours ago
- #APOBEC
- #OMT
- #CN-LOH
- Ovarian mature teratoma (OMT) exhibits copy-neutral loss of heterozygosity (CN-LOH) derived from meiotic errors.
- OMT is classified into five types based on CN-LOH patterns, but tumor purity issues complicate accurate classification.
- Laser microdissection and whole-exome sequencing were used on 29 epithelial regions from 22 OMT cases and 1 carcinoma in situ (CIS) region.
- CN-LOH patterns were identical within the same tumor but distinct in bilateral tumors, indicating independent origins.
- Type II OMTs showed chromosomal gains, suggesting meiosis I error before meiosis II error.
- Somatic mutation analysis revealed a low mutation burden, with one case having a PIK3CA mutation.
- CIS region had additional copy number alterations, TP53 mutations, and a tumor mutation burden of 6.2 mutations per megabase.
- Mutational signature analysis showed enrichment of APOBEC-associated signatures.
- The study provides new insights into OMT tumor development and malignant transformation mechanisms.