王正^1,,
宋波^2,,
1. 扬州大学附属医院 病理科，江苏 扬州 225009
2. 大连医科大学 病理学与法医学教研室，辽宁 大连 116044

基金项目: 辽宁省教育厅项目（LZ2019035）


详细信息 作者简介: 王 正（1981-），女，副主任医师。研究方向：肿瘤病理诊断。E-mail：464247838@qq.com


通讯作者: 宋 波，教授。研究方向：肿瘤病理学。E-mail：bosong@dmu.edu.cn 中图分类号: R737.33


摘要:子宫肉瘤是来源于子宫间叶组织的少见恶性肿瘤，分类较多。最常见的类型包括子宫平滑肌肉瘤、子宫内膜间质肉瘤和未分化子宫肉瘤。近年来随着分子病理学技术的应用，一些子宫肉瘤的新亚型被发现，如高级别子宫内膜间质肉瘤被分为YWHAE-NUTM2A/B融合、ZC3H7B-BCOR融合和BCOR内部串联重复三种分子亚型。同时也陆续发现了一些新的子宫肉瘤分类，包括SMARCA4缺失性子宫未分化肉瘤、NTRK基因重排的子宫肉瘤和COL1A1-PDGFB融合的子宫肉瘤。这些类型子宫肉瘤在临床病理诊断过程中容易误诊，需要掌握其组织学特点、免疫组化表型及分子病理学改变等特征进行诊断及鉴别诊断。子宫肉瘤的特定基因改变不仅为子宫肉瘤的精准分类提供依据，更为探索靶向治疗带来希望。
关键词: 子宫肉瘤/
病理诊断/
新亚型/
分子病理学


Abstract:Uterine sarcomas are a group of rare malignant tumors originating from mesenchymal tissue with many subtypes. The most common histopathological subtypes include uterine leiomyosarcoma, endometrial stromal sarcoma, and undifferentiated uterine sarcoma. In recent years, with the application of molecular pathology, some new subgroups of uterine sarcomas have been discovered. For example, high-grade endometrial stromal sarcoma (HGESS) can be divided into three subgroups: YWHAE-NUTM2A/B fusion-positive HGESS, ZC3H7B-BCOR fusion-positive HGESS and BCOR internal tandem duplication-positive HGESS. At the same time, some new types of uterine sarcomas have been reported, including SMARCA4-deficient undifferentiated, NTRK-rearranged, and COL1A1-PDGFB fusion uterine sarcoma. All these uterine sarcomas can be misdiagnosed easily in the course of clinicopathological diagnosis. Histological features, immunohistochemical phenotypes and molecular pathological alterations are required for diagnosis and differentiation. Specific genetic alterations in uterine sarcomas not only provide evidence for accurate subtype of uterine sarcomas, but also bring hope to explore targeted therapy.
Keywords:uterine sarcoma/
pathological diagnosis/
new subtype/
molecular pathology

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