Department of Pathology, University of Chicago, Chicago, IL.
Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL.
Adv Anat Pathol. 2024 Nov 1;31(6):380-396. doi: 10.1097/PAP.0000000000000440. Epub 2024 Apr 16.
Uterine mesenchymal neoplasms are a challenging group of tumors that often show overlapping morphologic features and immunohistochemical profiles. The increasing use of molecular testing in these tumors has enabled a better appreciation of their pathobiology, resulting in a wave of emerging neoplasms and improved characterization of ones previously considered exceptionally rare. Identification of specific molecular alterations has permitted targeted therapy options in tumors that were typically unresponsive to conventional therapies, as well as recognition that a subset can have a hereditary basis. This review will discuss the more "common" of the uncommon uterine mesenchymal neoplasms, including inflammatory myofibroblastic tumor, perivascular epithelioid cell tumor, uterine tumor resembling ovarian sex cord tumor, and embryonal rhabdomyosarcoma. This will be followed by an overview of emerging entities, including NTRK -rearranged uterine sarcoma, SMARCA4 -deficient uterine sarcoma, KAT6B/A::KANSL1 fusion uterine sarcoma, and MEIS1::NCOA2/1 fusion sarcoma.
子宫间质肿瘤是一组具有挑战性的肿瘤，它们通常表现出重叠的形态特征和免疫组织化学特征。这些肿瘤中越来越多地使用分子检测，使人们更好地了解其病理生物学，从而出现了一波新的肿瘤，并改善了以前被认为非常罕见的肿瘤的特征。特定分子改变的识别使靶向治疗成为可能，这些肿瘤通常对传统治疗反应不佳，并且认识到其中一部分可能具有遗传性基础。这篇综述将讨论更常见的罕见子宫间叶性肿瘤，包括炎性肌纤维母细胞瘤、血管周上皮样细胞肿瘤、类似于卵巢性索肿瘤的子宫肿瘤和胚胎横纹肌肉瘤。然后将概述新出现的实体瘤，包括 NTRK 重排的子宫肉瘤、SMARCA4 缺陷的子宫肉瘤、KAT6B/A::KANSL1 融合的子宫肉瘤和 MEIS1::NCOA2/1 融合肉瘤。
