Molecular analysis has classified endometrial carcinoma into four clinically significant molecular subgroups with varying prognoses: POLE mutations, MSI-H, CN low, and CN high.
Patients with POLE mutational status have a favorable prognosis. POLE-mutant tumors are defined by hot spot mutations in the exonuclease domain of DNA POLE. They have significantly improved progression-free survival, regardless of histotype and grade.
CN-low tumors are typically low-grade endometrioid carcinomas. They frequently harbor mutations in PTEN, PIK3CA, ARID1A, CTNNB1, and KRAS. On the other hand, CN-high tumors are associated with the poorest outcome of endometrial cancers, consisting of serous carcinomas and some high-grade endometrioid carcinomas. These tumors have extensive CN alterations, frequent mutations in TP53, few DNA methylation changes, and low estrogen receptor (ER)/progesterone (PR) receptor levels.
Finally, MSI-high tumors can be either low-grade or high-grade endometrioid carcinomas.
In terms of risk factors of developing uterine neoplasms, these features include early age at menarche, nulliparity, late age at menopause, Lynch syndrome, being ≥ 55 years of age, and tamoxifen use. Increased levels of estrogen, which may be caused by obesity, diabetes, and a high-fat diet, is another risk factor.
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Cite this: Pamela Soliman. Skill Checkup: A Woman With Increasing Abdominal Pain, Nausea, Vomiting, and Ascites - Medscape - Apr 21, 2022.