title: Endometrial stromal sarcoma--the new genetic paradigm.
abstract: Endometrial stromal sarcoma (ESS) is a gynaecological sarcoma that is composed of cells that resemble those of proliferative-phase endometrial stroma. The 2014 World Health Organization tumour classification system separates ESS into low-grade and high-grade types, which are histologically, genetically and clinically distinct from undifferentiated uterine sarcoma (UUS). Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions. Although most low-grade ESSs show classic histological features that closely resemble those of proliferative-phase endometrial stroma, there are several histological variants that are associated with the same genetic fusions as seen in the classic type. High-grade ESS is defined by the presence of YWHAE-NUTM2A/B (YWHAE-FAM22A/B) fusions. High-grade ESSs are clinically more aggressive than low-grade ESSs, but are associated with a lower mortality rate than UUSs. The histological and immunophenotypic features of these different types of ESS, and their diagnostic considerations, are the subjects of this review.
authors.affiliation: Department of Laboratory Medicine and Pathology, Royal Alexandra Hospital, University of Alberta, Edmonton, AB, Canada.
authors.forename: Cheng-Han
authors.initials: CH
authors.lastname: Lee
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
authors.forename: Marisa R
authors.initials: MR
authors.lastname: Nucci
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D063151:Polycomb Repressive Complex 2 / Q000235:genetics; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors
chemical_list: D048948:14-3-3 Proteins; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; C000630260:NUTM1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D015514:Oncogene Proteins, Fusion; C430461:SUZ12 protein, human; D014157:Transcription Factors; C482983:YWHAE protein, human; D063151:Polycomb Repressive Complex 2
keywords: NUTM2; YWHAE; endometrial stromal sarcoma; uterine sarcoma