Department of Anatomic Pathology and Laboratory Medicine, Indiana University, 635 Barnhill Drive, Indianapolis, IN, 46202, USA.
Department of Pathology, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA; Department of Genomic Medicine, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, 77030, USA.
Hum Pathol. 2024 May;147:101-113. doi: 10.1016/j.humpath.2024.01.007. Epub 2024 Jan 26.
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.
世界卫生组织（WHO）软组织和骨肿瘤分类目前将未分化小圆细胞肉瘤分为四个类别：尤因肉瘤、EWSR1 非 ETS 融合基因阳性的小圆细胞肉瘤（包括 NFATc2 和 PATZ1）、CIC 重排肉瘤，以及伴有 BCOR 基因改变的肉瘤。由于这些肿瘤较为罕见，且形态学和免疫组织化学表现存在重叠，因此经常给诊断带来很大的挑战。此外，可能需要进行分子检测（伴随潜在的陷阱），以明确诊断。本文综述了这些肿瘤的临床、组织学、免疫组织化学和分子特征。此外，还讨论了鉴别诊断以及存在不确定性和正在研究的领域。
