Uterine mesenchymal tumors encompass a diverse and diagnostically challenging group of neoplasms, including smooth muscle tumors, endometrial stromal tumors (ESS), perivascular epithelioid cell tumors (PEComas), inflammatory myofibroblastic tumors (IMTs), uterine tumor resembling ovarian sex cord tumor (UTROSCT), along with many other relatively rare entities. Traditionally classified by histomorphology and immunophenotype, these tumors are now increasingly defined by recurrent genetic alterations that refine diagnosis and elucidate tumorigenesis. For example, leiomyosarcomas display complex genomic instability with frequentTP53,RB1, andATRXmutations. Low grade-ESS are characterized byJAZF1::SUZ12and other related fusions, whereas high-grade tumors harborYWHAE::NUTM2orZC3H7B::BCORfusions, andBCORinternal tandem duplication (ITD) alterations. PEComas frequently containTSC1orTSC2mutations, leading to aberrant activation of the mTOR pathway. Beyond their diagnostic utility, these molecular signatures increasingly inform prognosis and highlight potential therapeutic targets, including CDK4/6 inhibition, PI3K/AKT/mTOR blockade, and immunotherapy. This review summarizes the evolving molecular landscape of uterine mesenchymal tumors, underscoring the value of integrating molecular testing into clinical practice to enhance diagnostic precision and enable personalized management of these rare yet clinically significant neoplasms.
子宫间叶性肿瘤是一组形态多样且诊断具有挑战性的肿瘤，包括平滑肌肿瘤、子宫内膜间质肿瘤（ESS）、血管周上皮样细胞肿瘤（PEComa）、炎性肌纤维母细胞肿瘤（IMT）、类似卵巢性索肿瘤的子宫肿瘤（UTROSCT）以及许多其他相对罕见的类型。传统上依据组织形态学和免疫表型进行分类，如今这些肿瘤越来越多地通过复发性遗传学改变来界定，这些改变不仅优化了诊断，也阐明了肿瘤发生机制。例如，平滑肌肉瘤表现出复杂的基因组不稳定性，常伴有TP53、RB1和ATRX基因突变。低级别ESS以JAZF1::SUZ12及其他相关融合为特征，而高级别肿瘤则存在YWHAE::NUTM2或ZC3H7B::BCOR融合以及BCOR内部串联重复（ITD）改变。PEComa常包含TSC1或TSC2突变，导致mTOR通路异常激活。除了诊断价值外，这些分子特征越来越多地为预后判断提供依据，并揭示潜在的治疗靶点，包括CDK4/6抑制剂、PI3K/AKT/mTOR通路阻断剂以及免疫疗法。本综述总结了子宫间叶性肿瘤不断演变的分子学特征，强调将分子检测整合到临床实践中的价值，以提高这些罕见但具有重要临床意义的肿瘤的诊断精确性，并实现个体化治疗。
肿瘤(癌症)患者之家