Background/Objectives: The prognostic associations of tumor genomics and metastatic patterns remain incompletely defined in leiomyosarcoma (LMS). We investigated the association between tumor mutations, sites of metastasis, and survival in patients with LMS. Methods: This single-center retrospective cohort study evaluated 110 patients with biopsy-proven LMS who underwent genomic testing between January 2009 and May 2023. Associations between tumor mutations, metastatic sites, and uterine vs. non-uterine LMS were assessed using χ2or Fisher’s exact test. Progression-free survival/recurrence-free survival (PFS/RFS) and overall survival (OS) were estimated with the Kaplan–Meier method and compared using the log-rank test, and subsequent Cox proportional hazards regression examined associations of OS and PFS/RFS with tumor mutations and metastatic sites. Results: The study included 110 subjects (F/M: 81/29; median age, 57 years; 25/110 with metastatic disease). Overall, the most common mutations were inTP53(74/110, 67%) andRB1(24/110, 22%), and the most common metastatic sites were the lungs (79/99, 80%) and liver (37/99, 37%). In terms of metastatic patterns, peritoneal (24/50, 48%), pelvic (23/50, 46%), and pleural (9/50, 18%) metastases were more common in the uLMS group (p= 0.001, 0.01, and 0.04, respectively), whereas liver (27/60, 45%) and retroperitoneal (15/60, 25%) metastases were more common in the nuLMS group (p= 0.03 and 0.04, respectively).ATRXmutations (17/110, 15%) and pleural metastases (11/99, 11%) were independently associated with lower OS. Predictive survival models were generated, demonstrating variable interdependent associations between genomic alterations, metastatic sites, and outcomes (OS and PFS/RFS). Post hoc analysis of an independent cohort (N = 2606) demonstrated thatATRXmutations were similarly associated with lower OS (28.95 vs. 33.86 months;p= 0.006). Conclusions: Our study identifies differences in metastatic patterns between uterine and non-uterine LMS and highlights the adverse prognostic association ofATRXmutations and pleural metastases in a leiomyosarcoma-specific cohort.
背景/目的：平滑肌肉瘤（LMS）中肿瘤基因组学与转移模式的预后关联尚未完全明确。本研究旨在探讨LMS患者肿瘤突变、转移部位与生存期之间的关联。方法：这项单中心回顾性队列研究纳入了2009年1月至2023年5月期间经活检证实并接受基因组检测的110例LMS患者。采用χ²检验或Fisher精确检验评估肿瘤突变、转移部位与子宫来源/非子宫来源LMS之间的关联。采用Kaplan-Meier法估算无进展生存期/无复发生存期（PFS/RFS）和总生存期（OS），并通过时序检验进行比较；随后通过Cox比例风险回归模型分析OS和PFS/RFS与肿瘤突变及转移部位的关联。结果：研究共纳入110例受试者（女性/男性：81/29；中位年龄57岁；其中25例存在转移性疾病）。总体而言，最常见的突变基因为TP53（74/110，67%）和RB1（24/110，22%），最常见的转移部位为肺部（79/99，80%）和肝脏（37/99，37%）。在转移模式方面，腹膜转移（24/50，48%）、盆腔转移（23/50，46%）和胸膜转移（9/50，18%）在子宫来源LMS组中更常见（p值分别为0.001、0.01和0.04），而肝脏转移（27/60，45%）和腹膜后转移（15/60，25%）在非子宫来源LMS组中更常见（p值分别为0.03和0.04）。ATRX突变（17/110，15%）和胸膜转移（11/99，11%）与较低的OS独立相关。研究构建的预测生存模型显示，基因组改变、转移部位与临床结局（OS和PFS/RFS）之间存在不同程度的相互依赖关联。对独立队列（N=2606）的事后分析表明，ATRX突变同样与较低的OS相关（28.95个月 vs. 33.86个月；p=0.006）。结论：本研究揭示了子宫来源与非子宫来源LMS转移模式的差异，并在平滑肌肉瘤特异性队列中明确了ATRX突变和胸膜转移的不良预后关联。
肿瘤(癌症)患者之家