An update in pathologic diagnosis of uterine mesenchymal tumours. Issue 12 (December 2021)

• Record Type: Journal Article
• Authors: Chapel, David B.; Nucci, Marisa R.
• Is Part Of: Diagnostic histopathology. Volume 27:Issue 12(2021)
• Page Start: 506
• Page End: 518
• Publication Date: 2021-12
• Subjects: endometrial stromal tumors -- molecular targeted therapy -- oncogene fusion proteins -- perivascular epithelioid cell neoplasms -- sarcoma -- uterine neoplasms; Histology, Pathological -- Periodicals; Cytodiagnosis -- Periodicals; Diagnosis, Laboratory -- Periodicals; Pathology -- Periodicals; Histopathologie -- Périodiques; Pathologie -- Périodiques; Cytodiagnostics -- Périodiques; Diagnostics biologiques -- Périodiques; Histologie -- Technique -- Périodiques; Electronic journals; 616.07582
• DOI: 10.1016/j.mpdhp.2021.09.005
• Languages: English
• ISSNs: 1756-2317

Abstract

Abstract: Recent discovery of new disease-defining molecular alterations and development of novel targeted therapies has dramatically changed the classification and management of uterine mesenchymal neoplasms. This review discusses diagnostic updates in endometrial stromal sarcoma, PEComa, uterine tumor resembling ovarian sex cord tumor (UTROSCT), inflammatory myofibroblastic tumor, NTRK fusion uterine sarcoma, COL1A1-PDGFB fusion sarcoma, and SMARC-deficient uterine sarcoma. Key clinical, morphologic, immunophenotypic, and molecular features are reviewed, with emphasis on common differential diagnoses and pitfalls, and their impact on prognosis or management. Where applicable, the role of novel targeted therapies is discussed. A stepwise approach to uterine mesenchymal neoplasms can achieve a proper diagnosis and guide appropriate clinical management in most cases. Nonetheless, given the rarity of these tumors, their overlapping pathologic features, and rapid evolution in their classification and management, we advocate a low threshold for diagnostic consultation.