国庆中秋软组织肿瘤病理学新进展大集合

Undifferentiated Small Round Cell Sarcomas of Bone and Soft Tissue	骨和软组织 未分化小圆细胞肉瘤
Ewing sarcoma, and the growing family of undifferentiated, predominantly round cell sarcomas that lack EWSR1 (or FUS) rearrangements (formerly designated “Ewing-like” sarcomas), are aggressive sarcomas that predominantly affect children and young adults but may also occur in older adults.	尤文肉瘤，以及未分化的、主要为圆形细胞的肉瘤家族，缺乏EWSR1(或FUS)重排(以前称为“尤文样”肉瘤)，是侵袭性肉瘤，主要发生于儿童和年轻人，但也可能发生于老年人。
Recent molecular genetic discoveries and clinicopathologic studies have allowed subclassification of tumors within the former wastebasket of undifferentiated/ unclassified round cell sarcomas into new distinct entities in the 2020 WHO: round cell sarcomas with EWSR1-non-erythroblast transformation specific (ETS) fusions, CIC-rearranged sarcomas, and sarcomas with BCOR genetic alterations.	最近的分子遗传学发现和临床病理学研究已经允许2020年世界卫生组织将以前未分化/未分类的圆细胞肉瘤这个废纸篓分类为新的不同实体:具有EWSR1-non-ETS融合的圆细胞肉瘤、CIC-重排肉瘤和具有BCOR遗传改变的肉瘤。
In addition, the Ewing sarcoma section has been pulled out from the bone tumor chapter of the fourth edition of the WHO Classification, and grouped with the other aforementioned sarcomas in a new chapter “undifferentiated small round cell sarcomas of bone and soft tissue” in the 2020 WHO Classification, to reflect a more accurate biological understanding of the complex genomic landscape of this updated category.	此外，尤文肉瘤章节已从WHO分类第四版骨肿瘤章节中抽出，并在2020年WHO分类的新章节“骨和软组织未分化小圆细胞肉瘤”中与上述其他肉瘤分开，以反映对这一更新类别的复杂基因组的更准确的生物学理解。
Finally, there remains a small subset of round cell sarcomas that are as yet unclassifiable.	最后，还有一小部分圆形细胞肉瘤尚未分类。
The substantial overlap in morphology and clinical features, but divergent biological behavior and very low incidence, present unique diagnostic problems for these sarcoma types, and mandate ancillary IHC and/or molecular testing and a multimodal approach that is challenging outside of specialized referral centers.	形态学和临床特征的大量重叠，但不同的生物学行为和非常低的发病率，为这些肉瘤类型提出了独特的诊断问题，并要求辅助IHC和/或分子检测以及在专业转诊中心之外具有挑战性的多模式方法。
The broad morphologic differential diagnosis for this group of tumors also includes rhabdomyosarcomas (especially embryonal and alveolar), as well as poorly differentiated (round cell) synovial sarcoma, small cell osteosarcoma, mesenchymal chondrosarcoma, schwannian stroma-poor or undifferentiated neuroblastomas, Wilms tumor, and desmoplastic small round cell tumor.	这类肿瘤的广泛形态学鉴别诊断还包括横纹肌肉瘤(尤其是胚胎性和腺泡性状)，以及差分化(圆形细胞)滑膜肉瘤、小细胞骨肉瘤、间叶性软骨肉瘤、施万基质贫乏或未分化的神经母细胞瘤、肾母细胞瘤和促结缔组织增生性小圆细胞肿瘤。
Here we will discuss the main subcategories of undifferentiated small round cell sarcomas, with a focus on novel genetic alterations and their histologic/ immunophenotypic differences, as well as clinical implications.	在这里，我们将讨论未分化小圆细胞肉瘤的主要亚型，重点是新的遗传改变和其组织学/免疫表型差异，以及临床意义。