Department of Pathology, Foshan Hospital of Traditional Chinese Medicine, Guangzhou University of Chinese Medicine, Foshan, China.
Medicine (Baltimore). 2024 Aug 16;103(33):e39123. doi: 10.1097/MD.0000000000039123.
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.
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.
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.
Various treatments were administered post-recurrence, including chemotherapy and targeted therapies. However, poor clinical outcomes were observed in all cases.
Despite aggressive treatments, including chemotherapy and targeted therapies, poor clinical outcomes were observed, highlighting the aggressive nature of UTROSCT with significant rhabdoid differentiation.
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.
具有横纹肌样特征的类似于卵巢性索肿瘤的子宫肿瘤（UTROSCT）是一种罕见的间叶性肿瘤，具有多种组织学形态，包括显著的横纹肌样形态。全面了解其临床病理特征对于准确诊断和有效管理至关重要。
本研究报告了 4 例具有横纹肌样特征的 UTROSCT，患者年龄为 31 岁至 58 岁。观察到不同的复发模式，包括与原发性肿瘤相似的复发性病变，随后死亡，最初的侵袭和淋巴结转移，以及仅存在原发性肿瘤。
组织病理学检查显示出不同的形态学模式，突出表现为横纹肌样分化。免疫组织化学分析显示激素受体、性索、平滑肌和上皮标志物的表达，特别是 WT1、CD56 和 CD99。分子分析鉴定出 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关联。
在复发后给予了各种治疗，包括化疗和靶向治疗。然而，所有病例的临床结局均较差。
尽管进行了包括化疗和靶向治疗在内的积极治疗，但所有病例的临床结局均较差，突出了具有显著横纹肌样分化的 UTROSCT 的侵袭性本质。
本病例系列强调了在具有横纹肌样特征的 UTROSCT 病例中详细的病理报告、全面的分子检测和彻底的肿瘤分期的重要性。增强对具有横纹肌样分化的 UTROSCT 的临床病理特征的理解对于准确诊断、预后和管理策略至关重要。
