关键词: BCOR CIC Desmoplastic small round cell tumor EWSR1 Ewing sarcoma FUS Rhabdomyosarcoma Sarcoma

Mesh : Humans Sarcoma / genetics Sarcoma, Ewing / diagnosis genetics pathology Sarcoma, Small Cell / diagnosis genetics pathology Soft Tissue Neoplasms Biomarkers, Tumor / genetics analysis Abdomen / pathology Gastrointestinal Tract / pathology

来  源:   DOI:10.1016/j.path.2023.05.012

Abstract:
Small round cell neoplasms are diagnostically challenging owing to their clinical and pathologic overlap, necessitating use of large immunopanels and molecular analysis. Ewing sarcomas (ES) are the most common, but EWSR1 is translocated in several diverse neoplasms, some with round cell morphology. Molecular advances enable classification of many tumors previously termed \'atypical ES\'. The current WHO Classification includes two new undifferentiated round cell sarcomas (with CIC or BCOR alterations), and a group of sarcomas in which EWSR1 partners with non-Ewing family transcription factor genes. This article reviews the spectrum of small round cell sarcomas within the gastrointestinal tract and abdomen.
摘要:
小圆细胞肿瘤由于其临床和病理重叠而在诊断上具有挑战性,需要使用大型免疫分析和分子分析。尤因肉瘤(ES)是最常见的,但是EWSR1在几种不同的肿瘤中易位,一些具有圆形细胞形态。分子进展使许多以前称为“非典型ES”的肿瘤能够分类。目前的WHO分类包括两个新的未分化圆形细胞肉瘤(有CIC或BCOR改变),和一组肉瘤,其中EWSR1与非尤因家族转录因子基因配对。本文综述了胃肠道和腹部小圆细胞肉瘤的频谱。
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