Prognostic Biomarker of Fertility‐Preserving Hormonal Therapy Based on Multigene Panel Testing for Endometrial Cancer
ABSTRACT
In this study, we identified prognostic biomarkers that predict treatment outcome in patients receiving fertility‐preserving high‐dose medroxyprogesterone acetate (MPA) therapy through comprehensive multigene panel testing. A total of 38 patients (20 atypical endometrial hyperplasia and 18 stage IA G1 without myometrial invasion) who received first‐line MPA therapy were enrolled. Genomic DNA was extracted from formalin‐fixed paraffin‐embedded samples, and PleSSision‐Rapid multigene panel testing was performed. Of the 38 patients, 31 (82%) achieved complete response (CR), 2 (5%) had stable disease (SD), and 5 (13%) had progressive disease (PD) following initial treatment. The median duration to achieve tumor disappearance was 7 months (range: 4–14 months). Following initial treatment, 25 of 32 patients (78%) experienced recurrence, with a median recurrence‐free survival (RFS) of 21 months (range: 2–84 months). The most frequently observed actionable gene mutations were
PTEN
(68.4%),
CTNNB1
(55.2%), and
PIK3CA
(33.3%). Patients harboring
PTEN
mutations in EMG1 required a significantly longer duration to achieve tumor disappearance (
p
= 0.011). In addition, the presence of
PIK3CA
mutations in AEH was significantly associated with shorter RFS (
p
= 0.048). Molecular classification identified 34 patients (89%) with no specific molecular profile (NSMP), 1 patient (3%) with POLE mutation, and 3 patients (8%) with deficient mismatch repair (d‐MMR). Most patients undergoing MPA therapy were classified as having NSMP. Genetic alterations, specifically mutations in
PTEN
and
PIK3CA
, were significantly associated with treatment outcomes, highlighting their potential as prognostic biomarkers.
