Mesh ： Biomarkers, Tumor / analysis genetics Biopsy Cell Differentiation Co-Repressor Proteins DNA-Binding Proteins Diagnosis, Differential Endometrial Neoplasms / chemistry classification genetics pathology Endometrial Stromal Tumors / chemistry classification genetics pathology Female Gene Fusion Genetic Predisposition to Disease Humans Immunohistochemistry In Situ Hybridization, Fluorescence Neoplasm Grading Neoplasm Proteins / genetics Oncogene Proteins, Fusion / genetics Phenotype Polycomb Repressive Complex 2 / genetics Predictive Value of Tests Sarcoma, Endometrial Stromal / chemistry classification genetics pathology Terminology as Topic Transcription Factors Translocation, Genetic

来  源：   DOI：10.1097/PAP.0000000000000046   PDF(Sci-hub)

Abstract：
Endometrial stromal tumors are rare uterine mesenchymal neoplasms that have intrigued pathologists for years, not only because they commonly pose diagnostic dilemmas, but also because the classification and pathogenesis of these tumors has been widely debated. The current World Health Organization recognizes 4 categories of endometrial stromal tumor: endometrial stromal nodule (ESN), low-grade endometrial stromal sarcoma (LG-ESS), high-grade endometrial stromal sarcoma (HG-ESS), and undifferentiated uterine sarcoma (UUS). uterine sarcoma. These categories are defined by the presence of distinct translocations as well as tumor morphology and prognosis. Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs. The latter tumors appear to have a prognosis intermediate between LG-ESS and UUS, which exhibits no specific translocation pattern. This review (1) presents the clinicopathologic features of endometrial stromal tumors; (2) discusses their immunophenotype; and (3) highlights the recent advances in molecular genetics which explain their pathogenesis and lend support for a new classification system.
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