Department of Pathology, Oregon Health & Science University, Portland, OR, 97239, USA.
Department of Laboratories, Seattle Children's Hospital, Seattle, WA, 98105, USA.
Curr Treat Options Oncol. 2020 Sep 1;21(11):90. doi: 10.1007/s11864-020-00785-1.
The diagnosis of round cell sarcomas has changed rapidly over the last decade, causing much diagnostic confusion for pathologists and oncologists. The advances in diagnosis are largely due to the advent of next-generation sequencing techniques, which allowed the recognition of novel gene fusions in round cell sarcomas. The new 5th edition of the WHO Classification of Tumors of Soft Tissue and Bone recognizes four subgroups of undifferentiated round cell sarcomas: Ewing sarcoma, CIC-rearranged sarcomas, BCOR-altered sarcomas, and sarcomas with EWSR1-non-ETS fusions, in addition to desmoplastic small round cell tumor. This classification is based on a variety of publications showing that each of these molecular subtypes has unique clinical and prognostic characteristics distinct from Ewing sarcoma, therefore supporting the validity of recognizing these as discrete diagnostic entities. Despite our improved ability to diagnose these new round cell sarcomas, there remains confusion on how best to identify and treat these tumors. However, several key clinicopathologic features can point the physician toward the correct diagnosis. The goal of the following article is to emphasize the key clinical, pathologic, molecular, and prognostic differences between Ewing sarcoma and these non-Ewing round cell malignancies to improve recognition of these rare diseases.
过去十年间，小圆细胞肉瘤的诊断发生了迅速变化，导致病理学家和肿瘤学家感到困惑。诊断方面的进步主要归因于下一代测序技术的出现，该技术使小圆细胞肉瘤中新的基因融合得到了识别。软组织和骨肿瘤第五版世界卫生组织分类除了识别黏液性小圆细胞肿瘤外，还将未分化小圆细胞肉瘤分为四个亚组：尤文肉瘤、CIC 重排肉瘤、BCOR 改变的肉瘤和具有 EWSR1-非 ETS 融合的肉瘤。该分类基于多种出版物，这些出版物表明这些分子亚型中的每一种都具有独特的临床和预后特征，与尤文肉瘤不同，因此支持将其作为独立的诊断实体来识别的有效性。尽管我们提高了诊断这些新型小圆细胞肉瘤的能力，但如何最好地识别和治疗这些肿瘤仍存在混淆。然而，一些关键的临床病理特征可以帮助医生确定正确的诊断。以下文章的目的是强调尤文肉瘤与这些非尤文小圆细胞恶性肿瘤之间在临床、病理、分子和预后方面的关键差异，以提高对这些罕见疾病的认识。
