129例肾上皮样血管平滑肌脂肪瘤的临床特征和预后分析

Clinical characteristics and prognosis of renal epithelioid angiomyolipoma in 129 patients

摘要

目的 探讨上皮样血管平滑肌脂肪瘤（eAML）的临床特征及预后影响因素，提高临床诊治水平。方法 回顾性分析2000年1月至2025年5月期间南京大学医学院附属金陵医院等四家诊疗中心收治的129例eAML患者的临床特征，并通过Cox回归分析确定预后因素。结果 129例eAML患者男女比例约1∶1，发病年龄（45.0±12.9）岁。85例（65.9%）患者无症状起病，108例（83.7%）患者表现为单发病灶，肿瘤最大径5.5（3.5，9.0）cm，102例（79.1%）患者确诊时为早期局限性病变。免疫组化结果显示，在可评估病例中，HMB-45、MELAN-A与SMA阳性率均高于85%；与之相反，CK、CK7及PAX8等上皮标志物绝大多数呈阴性反应。术后随访时间为5～154个月，中位随访52个月。随访期间共29例患者发生疾病进展，其中14例为局部复发（4例单纯局部复发，10例合并远处转移），另有15例出现单纯远处转移。转移部位以肝脏（11/25，44%）和肺部（10/25，40%）频次最高。在进展患者中，共13例患者死亡。患者无病生存期（DFS）和癌症特异性生存期（CSS）中位生存时间均未达到，5年DFS率与CSS率分别为74.31%（95%CI：66.27%～83.31%）和90.75%（95%CI：85.42%～96.42%）。在12例接受依维莫司作为一线治疗的晚期eAML患者中，10例实现疾病控制，其中最佳疗效为部分缓解（PR）5例。多因素Cox回归分析确定，年龄＞60岁（CSS）、存在临床症状（DFS）、肿瘤坏死（CSS与DFS）以及TNM分期较高（CSS与DFS）是影响预后的独立危险因素。结论 eAML患者多无症状起病，总体预后较好，但晚期患者预后仍不乐观，依维莫司在晚期患者中显示出确切的疗效。年龄＞60岁、存在症状、肿瘤坏死及TNM分期较高是影响eAML预后的独立危险因素，高危人群应行更密切的随访。

Abstract

Objective To investigate the clinical characteristics and prognostic factors of epithelioid angiomyolipoma (eAML), aiming to improve the clinical diagnosis and treatment of this disease. Methods The clinical features of 129 eAML patients treated during Jan. 2000 and May 2025 were retrospectively analyzed. Prognostic factors were identified using Cox regression analysis. Results Among the 129 patients, the male-to-female ratio was approximately 1∶1, and the mean age at onset was (45.0±12.9) years. A total of 85 patients (65.9%) were asymptomatic at presentation, and 108 patients (83.7%) had solitary lesions. The maximum tumor diameter was 5.5 (3.5, 9.0) cm. Early-stage localized disease was identified in 102 patients (79.1%) at diagnosis. Immunohistochemistry showed that the positivity rates for HMB-45, MELAN-A, and SMA all exceeded 85% in evaluable cases. In contrast, most epithelial markers, including CK, CK7, and PAX8, were negative. During the follow-up of 5 to 154 months (median 52 months), disease progression occurred in 29 patients, including 14 with local recurrence (4 with isolated recurrence and 10 with concurrent distant metastasis) and 15 with distant metastasis alone. The liver (11/25, 44%) and lungs (10/25, 40%) were the most common metastatic sites. Among patients with disease progression, 13 deaths were recorded. Median disease-free survival (DFS) and cancer-specific survival (CSS) were not reached. The 5-year DFS and CSS rates were 74.31% (95%CI: 66.27%-83.31%) and 90.75% (95%CI: 85.42%-96.42%), respectively. Among the 12 patients with advanced eAML receiving everolimus as first-line therapy, 10 achieved disease control, with the best response being partial remission (PR) in 5 patients. Multivariate Cox regression analysis identified age >60 years (CSS), presence of clinical symptoms (DFS), tumor necrosis (CSS and DFS), and higher TNM stage (CSS and DFS) as independent prognostic risk factors. Conclusion Most eAML patients are asymptomatic at onset and have an overall favorable prognosis; however, outcomes remain poor in advanced cases. Everolimus demonstrates clear efficacy in advanced eAML. Age >60 years, presence of symptoms, tumor necrosis, and higher TNM stage are independent prognostic factors. Patients at high risk require closer follow-up.

关键词

肾脏 / 上皮样血管平滑肌脂肪瘤 / 临床特征 / 预后分析 / 疗效

Key words

kidney / epithelioid angiomyolipoma / clinical characteristics / prognostic analysis / therapeutic efficacy

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基金资助

国家自然科学基金项目(82173345)

国家自然科学基金项目(82373154)

江苏省自然科学基金项目(BK20252093)