Croce Sabrina, Devouassoux-Shisheboran Mojgan, Pautier Patricia, Ray-Coquard Isabelle, Treilleux Isabelle, Neuville Agnès, Arnould Laurent, Just Pierre-Alexandre, Le Frere Belda Marie Aude, Averous Gerlinde, Leroux Agnès, Bataillon Guillaume, Mery Eliane, Loussouarn Delphine, Weinbreck Nicolas, Le Guellec Sophie, Mishellany Florence, Morice Philippe, Guyon Frédéric, Genestie Catherine
Anticancer Center, Institut Bergonié, Department of BioPathology, Bordeaux, France; Unité Inserm U1312, 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; CHU de Lyon, Department of Pathology, Lyon, France.
Bull Cancer. 2024 Jan;111(1):97-116. doi: 10.1016/j.bulcan.2023.08.002. Epub 2023 Oct 6.
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.
随着与复发性驱动分子改变相关的新实体的描述，子宫肉瘤的情况变得越来越复杂。与软组织肉瘤类似，子宫肉瘤可分为复杂基因组肉瘤和简单基因组肉瘤。平滑肌肉瘤和未分化子宫肉瘤属于复杂基因组肉瘤组。低级别和高级别子宫内膜间质肉瘤、其他与融合转录本相关的罕见肿瘤（如NTRK、PDGFB、ALK、RET ROS1）以及SMARCA4缺陷型子宫肉瘤被认为是简单基因组肉瘤。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。平滑肌肉瘤可分为三种不同的组织学亚型（梭形、黏液样、上皮样），黏液样和上皮样平滑肌肉瘤比梭形平滑肌肉瘤更具侵袭性。低级别和高级别子宫内膜间质肉瘤的区分主要基于形态学和免疫组化，融合转录本的检测有助于诊断。子宫PEComa是一种罕见肿瘤，根据风险评估算法可分为交界性和恶性。子宫颈胚胎性横纹肌肉瘤在儿童中更常见，但也可发生于成年女性。子宫颈胚胎性横纹肌肉瘤几乎总是DICER1突变，与野生型DICER1的阴道胚胎性横纹肌肉瘤不同，腺肉瘤也可发生DICER1突变，但频率较低。在新出现的实体中，与涉及NTRK、ALK、PDGFB基因的融合转录本相关的肉瘤可从靶向治疗中获益。将分子数据与组织学和临床数据相结合，有助于更好地识别子宫肉瘤，从而更好地进行治疗。
