TCGA molecular subtypes in endometriosis-associated ovarian cancer: a systematic review and meta-analysis

Endometriosis-associated ovarian cancer (EAOC) mainly includes endometrioid ovarian cancer (ENOC) and clear cell ovarian cancer (CCOC). The Cancer Genome Atlas (TCGA) revealed four molecular subtypes of endometrial cancer (EC) in 2013, which have been proven pivotal in the diagnostic, prognostic and therapeutic domains of EC. Existing evidence indicates that EC and EAOC molecular analysis have similar significance. This review aims to investigate the distribution, staging and prognostic characteristics of molecular subtypes in EAOC.

PubMed, Embase and Web of Science were systematically searched from January 2013 to December 2023 using predefined keywords. Patient characteristics, including stage and prognostic characteristics, were extracted from the selected studies. Data analysis was carried out using Stata 14MP.

A total of 6 studies involving 1,133 patients with ENOC and 4 studies comprising 377 patients with CCOC were included. ENOC had a higher frequency of the POLE mutation (POLEmut) subtype (odds ratio (OR) = 2.29, 95% CI: 1.03-5.11, p = 0.043) and the mismatch repair deficient (MMRd) subtype (OR = 3.54, 95% CI: 2.05-6.11, p = 0.000) than CCOC; ENOC had a lower frequency of the no specific molecular profile (NSMP) subtype (OR = 0.55, 95% CI: 0.41-0.73, p = 0.000) and the p53 abnormal (p53abn) subtype (OR = 0.97, 95% CI: 0.67-1.42, p = 0.893). The hazard ratios (HR) of the p53abn subtype in ENOC were disease-free survival (DFS) (HR = 3.25, 95% CI: 1.46-7.21, p = 0.004) and progression-free survival (PFS) (HR = 4.11, 95% CI: 2.86-5.92, p = 0.000). The DFS of the p53abn subtype in CCOC was calculated (HR = 5.52, 95% CI: 3.43-8.90, p = 0.000).

The TCGA subtypes of EC may exhibit similarities in prognosis between ENOC and CCOC.