Abstract：
The landscape of uterine sarcomas is becoming more complex with the description of new entities associated with recurrent driver molecular alterations. Uterine sarcomas, in analogy with soft tissue sarcomas, are distinguished into complex genomic and simple genomic sarcomas. Leiomyosarcomas and undifferentiated uterine sarcomas belong to complex genomic sarcomas group. Low-grade and high-grade endometrial stromal sarcomas, other rare tumors associated with fusion transcripts (such as NTRK, PDGFB, ALK, RET ROS1) and SMARCA4-deficient uterine sarcoma are considered simple genomic sarcomas. The most common uterine sarcoma are first leiomyosarcoma and secondly endometrial stromal sarcomas. Three different histological subtypes of leiomyosarcoma (fusiform, myxoid, epithelioid) are identified, myxoid and epithelioid leiomyosarcoma being more aggressive than fusiform leiomyosarcoma. The distinction between low-grade and high-grade endometrial stromal sarcoma is primarily morphological and immunohistochemical and the detection of fusion transcripts can help the diagnosis. Uterine PEComa is a rare tumor, which is distinguished into borderline and malignant, according to a risk assessment algorithm. Embryonal rhabdomyosarcoma of the uterine cervix is more common in children but can also occur in adult women. Embryonal rhabdomyosarcoma of the uterine cervix is almost always DICER1 mutated, unlike that of the vagina which is wild-type DICER1, and adenosarcoma which can be DICER1 mutated but with less frequency. Among the emerging entities, sarcomas associated with fusion transcripts involving the NTRK, ALK, PDGFB genes benefit from targeted therapy. The integration of molecular data with histology and clinical data allows better identification of uterine sarcomas in order to better treat them.
摘要：
随着与复发性驱动分子改变相关的新实体的描述，子宫肉瘤的景观变得越来越复杂。子宫肉瘤,类似于软组织肉瘤，分为复杂基因组肉瘤和简单基因组肉瘤。平滑肌肉瘤和未分化子宫肉瘤属于复杂基因组肉瘤组。低级和高级子宫内膜间质肉瘤，其他与融合转录本相关的罕见肿瘤(如NTRK，PDGFB,ALK,RETROS1）和SMARCA4缺陷型子宫肉瘤被认为是简单的基因组肉瘤。最常见的子宫肉瘤首先是平滑肌肉瘤，其次是子宫内膜间质肉瘤。平滑肌肉瘤的三种不同组织学亚型（梭形，粘液样，上皮样)被识别，粘液样和上皮样平滑肌肉瘤比梭形平滑肌肉瘤更具侵袭性。低级和高级子宫内膜间质肉瘤之间的区别主要是形态学和免疫组织化学，融合转录本的检测可以帮助诊断。子宫PEComa是一种罕见的肿瘤，分为边缘和恶性，根据风险评估算法。子宫颈的胚胎性横纹肌肉瘤在儿童中更常见，但也可发生在成年女性中。子宫颈的胚胎性横纹肌肉瘤几乎总是DICER1突变，与野生型DICER1的阴道和DICER1突变但频率较低的腺肉瘤不同。在新兴实体中，与涉及NTRK的融合转录本相关的肉瘤，ALK,PDGFB基因受益于靶向治疗。分子数据与组织学和临床数据的整合可以更好地鉴定子宫肉瘤，以便更好地治疗它们。
