Faculty, Staff and Student Publications

Publication Date

5-1-2024

Journal

Human Pathology

DOI

10.1016/j.humpath.2024.01.007

PMID

38280658

Abstract

The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic and immunohistochemical findings. Further, molecular testing, with accompanying pitfalls, may be needed to establish a definitive diagnosis. This review summarizes the clinical, histologic, immunohistochemical, and molecular features of these neoplasms. In addition, differential diagnosis and areas of uncertainty and ongoing investigation are discussed.

Keywords

Humans, Sarcoma, Ewing, Bone Neoplasms, Sarcoma, Small Cell, Biomarkers, Tumor, World Health Organization, Diagnosis, Differential, Immunohistochemistry, Soft Tissue Neoplasms, RNA-Binding Protein EWS, Repressor Proteins, Gene Rearrangement, Proto-Oncogene Proteins, Predictive Value of Tests, Phenotype, Genetic Predisposition to Disease, Oncogene Proteins, Fusion, BCOR, CIC, Ewing sarcoma, Ewing-like, NFATc2, PATZ1, Review, Round cell

Published Open-Access

yes

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