Single-nucleus RNA sequencing identifies a novel tenogenic heterologous differentiation in endometrial carcinosarcomas: implications for diagnosis and tumor classification.

ABSTRACT: Carcinosarcomas (CSs) are aggressive biphasic tumors characterized by epithelial and mesenchymal components, whose histogenesis and differentiation dynamics remain poorly understood. We present single-nucleus RNA sequencing (snRNA-seq) analysis of six CSs (five endometrial and one ovarian) and two normal endometrial samples, profiling over 96,298 cells. By integrating transcriptomic data with inferred copy number variations (CNVs), immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and in situ hybridization (ISH) validation, we resolved the complex cellular architecture of these tumors, identified lineage-specific programs, and revealed unexpected differentiation trajectories. snRNA-seq was used to further refine the histopathological classification of three cases by un

SUBMITTER: Gonzalez-Martinez S 

PROVIDER: S-EPMC12805614 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature