Zhang Yingao, Barkdull Savannah, Kontoyiannis Panayiotis D, Legarreta Alejandra Flores, Gershenson David M, Ramalingam Preetha, Frumovitz Michael M, Sood Anil K
Department of Obstetrics & Gynecology, Baylor College of Medicine, Houston, TX, United States.
McGovern Medical School, University of Texas Health Science Center, Houston, TX, United States.
Front Oncol. 2025 Aug 14;15:1573801. doi: 10.3389/fonc.2025.1573801. eCollection 2025.
Mucinous ovarian carcinomas (mOC) often harbor unique molecular alterations differentiating them from other epithelial ovarian carcinoma subtypes. We sought to characterize the somatic genomic mutation patterns in mOC and elucidate their associations with oncologic outcomes.
All patients with mOC treated at a single institution between 2005-2023 were identified, and those with validated tumor molecular profiling (TMP) using next-generation sequencing of somatic variants were included. Progression-free survival (PFS) and overall survival (OS) were calculated on a Kaplan-Meier estimator. Multivariable analysis was performed using Cox regression models.
Forty patients were included in this retrospective cohort; 34 (85%) had at least 1 genomic alteration on TMP, with a median of 3 mutations (range 0-30). (68%) and (63%) were most frequently altered, and 21 patients (53%) had tumors with / co-mutations. Patients with / co-mutations were younger (median 27.9 vs 54.1 y, p=0.01) and were more likely to have early-stage disease (86% vs 47%, p=0.02) than patients without these co-mutations. On multivariable analysis, / co-mutations were associated with decreased PFS (adjusted hazard ratio [aHR] 4.02, 95% confidence interval [CI] 1.46-12.5, p=0.01) and OS (aHR 21.4, 95% CI 4.28-156, p<0.001). On subgroup analysis of stage I tumors (N=27), the presence of / co-mutations remained independently associated with worse OS (aHR 8.66, 95% CI 1.50-93.8, p=0.03).
A substantial proportion of mOCs have concurrent and alterations on TMP, and this may portend worse survival, even for patients with early-stage disease. TMP could be a useful tool for prognostication and can be considered for patients with mOC at the time of diagnosis.
黏液性卵巢癌（mOC）通常具有独特的分子改变，使其有别于其他上皮性卵巢癌亚型。我们试图描述mOC中的体细胞基因组突变模式，并阐明它们与肿瘤学结局的关联。
确定了2005年至2023年期间在单一机构接受治疗的所有mOC患者，并纳入了那些通过体细胞变异的下一代测序进行了验证的肿瘤分子谱分析（TMP）的患者。采用Kaplan-Meier估计器计算无进展生存期（PFS）和总生存期（OS）。使用Cox回归模型进行多变量分析。
该回顾性队列纳入了40例患者；34例（85%）在TMP上至少有1种基因组改变，中位数为3个突变（范围0 - 30）。 （68%）和 （63%）是最常发生改变的，21例（53%）患者的肿瘤存在 / 共突变。与没有这些共突变的患者相比，有 / 共突变的患者更年轻（中位数27.9岁对54.1岁，p = 0.01），且更有可能患有早期疾病（86%对47%，p = 0.02）。在多变量分析中， / 共突变与PFS降低相关（调整后风险比[aHR] 4.02，95%置信区间[CI] 1.46 - 12.5，p = 0.01）和OS降低相关（aHR 21.4，95% CI 4.28 - 156，p < 0.001）。在I期肿瘤（N = 27）的亚组分析中， / 共突变的存在仍然与更差的OS独立相关（aHR 8.66，95% CI 1.50 - 93.8，p = 0.03）。
相当一部分mOC在TMP上同时存在 和 改变，这可能预示着更差的生存结局，即使对于早期疾病患者也是如此。TMP可能是一种有用的预后工具，在mOC患者诊断时可考虑使用。
