Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Histopathology. 2020 Jan;76(1):64-75. doi: 10.1111/his.14008.
Almost all uterine mesenchymal tumours have been historically classified as either smooth muscle or endometrial stromal neoplasms. Recent application of molecular techniques has identified numerous lesions with distinctive genetic abnormalities and clinicopathological characteristics. Newly discovered uterine sarcoma subtypes include high-grade endometrial stromal sarcomas with BCOR genetic abnormalities, fibrosarcoma-like uterine sarcomas with NTRK rearrangements and COL1A-PDGFRB fusions, as well as undifferentiated uterine sarcomas with SMARCA4 mutations. Novel PLAG1 and PGR fusions have been identified in subsets of myxoid and epithelioid leiomyosarcomas. Some uterine tumours resembling ovarian sex-cord tumour harbour GREB1 and ESR1 rearrangements. Histological and immunophenotypical features as well as underlying genetic abnormalities defining these lesions are discussed.
几乎所有的子宫间质肿瘤在历史上都被分类为平滑肌瘤或子宫内膜基质肿瘤。最近应用分子技术已经确定了许多具有独特遗传异常和临床病理特征的病变。新发现的子宫肉瘤亚型包括具有 BCOR 遗传异常的高级别子宫内膜间质肉瘤、具有 NTRK 重排和 COL1A-PDGFRB 融合的纤维肉瘤样子宫肉瘤，以及具有 SMARCA4 突变的未分化子宫肉瘤。在粘液样和上皮样平滑肌肉瘤亚组中已经发现了新的 PLAG1 和 PGR 融合。一些类似于卵巢性索肿瘤的子宫肿瘤存在 GREB1 和 ESR1 重排。讨论了这些病变的组织学和免疫表型特征以及潜在的遗传异常。
