背景:具有横纹肌样特征的类似于卵巢性索肿瘤(UTROSCT)的子宫肿瘤是不常见的间充质肿瘤,表现出不同的组织学模式,包括显著的横纹肌形态。彻底了解其临床病理特征对于准确诊断和有效管理至关重要。
方法:本研究报告4例具有横纹肌样特征的UTROSCT,在31至58岁的患者中诊断。观察到不同的复发模式,包括与原发肿瘤相似的复发病变,随后死亡,初始浸润和淋巴结转移,只有原发性肿瘤的存在。
方法:组织病理学检查显示不同的形态学模式,突出的特征是横纹肌样分化。免疫组织化学分析显示激素受体表达,性索,平滑肌,和上皮标记,特别是WT1、CD56和CD99。分子分析确定ESR1-NCOA2融合和ESR1和NCOA2/3重排,表明这些遗传改变与广泛的横纹肌样分化之间存在潜在的关联。
方法:复发后给予各种治疗,包括化疗和靶向治疗。然而,所有病例的临床结局均较差.
结果:尽管积极治疗,包括化疗和靶向治疗,观察到不良的临床结果,突出了UTROSCT的侵袭性,并伴有明显的横纹肌样分化。
结论:本病例系列强调详细病理报告的重要性,全面的分子检测,在具有横纹肌样特征的UTROSCT病例中进行彻底的肿瘤分期。增强对具有横纹肌样分化的UTROSCT的临床病理特征的了解对于准确诊断至关重要。预测,和管理策略。
BACKGROUND: Uterine tumors resembling ovarian sex cord tumors (UTROSCT) with rhabdoid features are uncommon mesenchymal neoplasms exhibiting diverse histological patterns, including significant rhabdoid morphology. A thorough comprehension of their clinicopathologic features is crucial for precise diagnosis and effective management.
METHODS: This study presents 4 cases of UTROSCT with rhabdoid features, diagnosed in patients aged 31 to 58. Varied recurrence patterns were observed, including similar recurrent lesions to the primary tumors with subsequent mortality, initial invasion and lymph node metastasis, and presence of only primary tumor.
METHODS: Histopathological examination revealed diverse morphological patterns, prominently featuring rhabdoid differentiation. Immunohistochemical analysis showed expression of hormone receptors, sex cord, smooth muscle, and epithelial markers, notably WT1, CD56, and CD99. Molecular analysis identified ESR1-NCOA2 fusions and ESR1 and NCOA2/3 rearrangements, indicating a potential association between these genetic alterations and extensive rhabdoid differentiation.
METHODS: Various treatments were administered post-recurrence, including chemotherapy and targeted therapies. However, poor clinical outcomes were observed in all cases.
RESULTS: Despite aggressive treatments, including chemotherapy and targeted therapies, poor clinical outcomes were observed, highlighting the aggressive nature of UTROSCT with significant rhabdoid differentiation.
CONCLUSIONS: This case series emphasizes the importance of detailed pathological reporting, comprehensive molecular testing, and thorough tumor staging in UTROSCT cases with rhabdoid features. Enhanced understanding of the clinicopathologic characteristics of UTROSCT with rhabdoid differentiation is crucial for accurate diagnosis, prognostication, and management strategies.