Type | Histology | Precursor | Molecular features |
---|---|---|---|
I | Low-grade serous carcinoma | Cystadenoma–borderline tumour–carcinoma sequence | Mutations in KRAS and/or BRAF (≥ 60%) |
I | Low-grade endometrioid carcinoma | Endometriosis and endometrial cell-like hyperplasia* | Mutations in CTNNB1, PTEN and PIK3CA with microsatellite instability |
I | Mucinous carcinoma | Cystadenoma–borderline tumour–carcinoma sequence; metastases from bowel | Mutations in KRAS; TP53 mutation associated with transition from borderline tumour to carcinoma |
I | Clear cell carcinoma | Endometriosis | PTEN mutation or loss of heterozygosity; PIK3CA mutation‡ |
II | High-grade serous carcinoma | De novo in epithelial inclusion cysts; fallopian tube | TP53 mutation (up to 80%) and BRCA1 dysfunction |
II | High-grade endometrioid carcinoma |
Epithelial inclusion glands or cysts | TP53 mutation and BRCA1 dysfunction; PIK3CA mutation |
Endometriosis and adjacent low-grade endometrioid carcinoma share common genetic events such as loss of heterozygosity at the same loci involving the same allele (for example, PTEN). By contrast, high-grade and poorly differentiated endometrioid carcinomas are similar to high-grade serous carcinomas.
PIK3CA at 3q26 encodes the p110α catalytic subunit of PI3K19.