POLE-mutated endometrial carcinoma with extreme morphological and molecular heterogeneity: spatial clonal divergence in a multiple-classifier tumor - PubMed
6 hours ago
- #multiple-classifier
- #POLE-mutated
- #spatial heterogeneity
- A unique triphasic endometrial carcinoma with endometrioid, dedifferentiated-like, and sarcomatoid-like components exhibited extreme morphological and molecular heterogeneity.
- All components shared a pathogenic POLE V411L mutation, confirming a common clonal origin, but showed progressive molecular divergence, including subclonal MSH6 alterations and TP53/ARID1A mutations in specific regions.
- The case demonstrates spatial clonal evolution in a multiple-classifier endometrial carcinoma, with maintained microsatellite stability supporting a POLE-driven hypermutator phenotype, though clinical implications of this heterogeneity require further investigation.