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子宫肉瘤和罕见的具有恶性潜能的子宫间叶性肿瘤。法国肉瘤集团和罕见妇科肿瘤集团的诊断指南。

Uterine sarcomas and rare uterine mesenchymal tumors with malignant potential. Diagnostic guidelines of the French Sarcoma Group and the Rare Gynecological Tumors Group.

机构信息

Department of BioPathology, Anticancer Center, Institut Bergonié, Bordeaux, France; Unité INSERM U1218, Bordeaux, France; Gynecological Pathology Group of RRePS (Réseau de Référence en Pathologie des Sarcomes) Network, France.

Gynecological Pathology Group of RRePS (Réseau de Référence en Pathologie des Sarcomes) Network, France; Department of Pathology, CHU, Lyon, France.

出版信息

Gynecol Oncol. 2022 Nov;167(2):373-389. doi: 10.1016/j.ygyno.2022.07.031. Epub 2022 Sep 14.

Abstract

The landscape of uterine sarcomas is becoming increasingly complex with the description of new entities associated with recurrent molecular alterations. Uterine sarcomas, as well as soft tissue sarcomas, can be distinguished into complex genomic sarcomas and simple genomic sarcomas. Leiomyosarcoma and pleomorphic type undifferentiated uterine sarcoma belong to the first group. Low-grade and high-grade endometrial stromal sarcomas, NTRK, COL1A1::PDGFB, ALK, RET, ROS1 associated sarcomas, and SMARCA4 deficient uterine sarcoma belong to the second group. Leiomyosarcoma is the most common uterine sarcoma followed by endometrial stromal sarcomas. Three different histologic subtypes of leiomyosarcomas are recognized with distinct diagnostic criteria and different clinical outcomes, the myxoid and epithelioid leiomyosarcomas being even more aggressive than the fusiform type. The distinction between low-grade and high-grade endometrial stromal sarcoma is based first on morphology and immunohistochemistry. The detection of fusion transcripts helps in the diagnosis. Definitely recognized as a separate entity, uterine PEComa is a rare tumor whose diagnostic criteria are being recently defined. Uterine PEComa has a specific algorithm stratifying the tumors into uncertain malignant potential and malignant tumors. Embryonal rhabdomyosarcomas of the uterine cervix are not restricted to children but can also be observed in adult women and are almost always DICER1 mutated, unlike embryonal rhabdomyosarcoma of the vagina which are DICER1wild-type, and adenosarcoma which can be DICER1 mutated but with less frequency. As sarcomas associated with fusion transcripts involving the NTRK, ALK, COL1A1::PDGFB genes can benefit from targeted therapy, systematic detection are now relevant especially for patients with high risk of relapse or in recurrent setting. The integration of molecular data with dedicated expert pathology review for histology and clinical data allows better identification of uterine sarcomas in order to better treat them.

摘要

随着与复发性分子改变相关的新实体的描述,子宫肉瘤的图谱变得越来越复杂。子宫肉瘤以及软组织肉瘤可分为复杂基因组肉瘤和简单基因组肉瘤。平滑肌肉瘤和多形性未分化的子宫肉瘤属于第一组。低级别和高级别子宫内膜间质肉瘤、NTRK、COL1A1::PDGFB、ALK、RET、ROS1 相关肉瘤和 SMARCA4 缺失的子宫肉瘤属于第二组。平滑肌肉瘤是最常见的子宫肉瘤,其次是子宫内膜间质肉瘤。三种不同组织学亚型的平滑肌肉瘤具有不同的诊断标准和不同的临床结局,黏液样和上皮样平滑肌肉瘤甚至比梭形型更具侵袭性。低级别和高级别子宫内膜间质肉瘤的区分首先基于形态学和免疫组织化学。融合转录本的检测有助于诊断。肯定被认为是一种单独的实体,子宫的 PEComa 是一种罕见的肿瘤,其诊断标准最近正在定义中。子宫的 PEComa 有一个特定的算法,将肿瘤分为不确定恶性潜能和恶性肿瘤。子宫颈的胚胎性横纹肌肉瘤不仅限于儿童,也可见于成年女性,几乎总是 DICER1 突变,与阴道的胚胎性横纹肌肉瘤不同,后者是 DICER1 野生型,而腺肉瘤可以是 DICER1 突变型,但频率较低。由于与涉及 NTRK、ALK、COL1A1::PDGFB 基因的融合转录本相关的肉瘤可以受益于靶向治疗,因此现在系统性检测对于高复发风险或复发患者尤其相关。将分子数据与专门的专家病理学审查整合在一起,用于组织学和临床数据,可以更好地识别子宫肉瘤,以便更好地治疗它们。

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