Xu Xiaowen, Shen Yingjie, Jiang Jingjing, Pang Yingxian, Cheng Kai, Li Zhi, Wang Yizhou, Chen Junjie, Yu Anze, Wang Jing, Li Minghao, Zhang Jing, Liu Longfei
Department of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Kaifu District, Changsha, 410008, Hunan Province, China.
National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
J Endocrinol Invest. 2025 Aug 20. doi: 10.1007/s40618-025-02689-z.
The genetic background and catecholamine phenotype of pheochromocytomas and paragangliomas (PPGLs) influence the age at diagnosis. However, few studies have systematically investigated clinical features of older patients with PPGLs. This study was based on one of the largest PPGL cohorts in China and aimed to summarize the clinical and genetic characteristics of older PPGL patients, especially concerning intraoperative hemodynamics and genetic background.
This retrospective study involved 897 patients with abdominal PPGLs from two Chinese centers. DNA from tumor samples was sequenced using next-generation sequencing. Clinical information, intraoperative hemodynamic data, and pathogenic variants were collected and compared between younger (≤ 50 years) and older (> 50 years) patients.
Older patients had a higher rate of incidental tumors (40.5% vs. 48.2%, P = 0.022), fewer typical catecholamine-related symptoms (49.8% vs. 42.4%, P = 0.032), lower plasma normetanephrine levels (7.61 vs. 5.17, P = 0.003) and higher proportion exceeding the normal glycemic range (21.7% vs. 34.4%, P = 0.01) compared to younger patients. The proportion of older patients receiving α-adrenergic receptor blockers for preoperative preparation decreased to 74% compared to 82.4% in younger patients (P = 0.003). During surgery, older patients showed hemodynamic changes indicative of vascular and cardiac aging. Specifically, older patients had lower minSBP, DBP, minMAP, and heart rate, while the SBP fluctuation was higher (P = 0.008). Additionally, younger patients have significantly higher mutation rates for SDHB (5.5% vs. 1.0%, P < 0.001) and VHL (13.3% vs. 7.3%, P = 0.003). HRAS mutations are more prevalent in older patients (10.5% vs. 21.3%, P < 0.001). IDH1 mutations occurred exclusively in older patients (0.56%, 5/887).
Older patients with PPGLs have unique clinical and genetic characteristics. These differences highlight the importance of personalized diagnosis and treatment for various age groups, particularly in developing preoperative preparation strategies to improve vascular and cardiac function in older patients.
嗜铬细胞瘤和副神经节瘤（PPGLs）的遗传背景和儿茶酚胺表型会影响诊断年龄。然而，很少有研究系统地调查老年PPGL患者的临床特征。本研究基于中国最大的PPGL队列之一，旨在总结老年PPGL患者的临床和遗传特征，尤其是术中血流动力学和遗传背景方面。
这项回顾性研究纳入了来自中国两个中心的897例腹部PPGL患者。使用下一代测序技术对肿瘤样本的DNA进行测序。收集并比较了年轻（≤50岁）和老年（>50岁）患者的临床信息、术中血流动力学数据和致病变异。
与年轻患者相比，老年患者的偶发肿瘤发生率更高（40.5%对48.2%，P = 0.022），典型的儿茶酚胺相关症状更少（49.8%对42.4%，P = 0.032），血浆去甲变肾上腺素水平更低（7.61对5.17，P = 0.003），血糖超出正常范围的比例更高（21.7%对34.4%，P = 0.01）。老年患者术前接受α-肾上腺素能受体阻滞剂准备的比例降至74%，而年轻患者为82.4%（P = 0.003）。手术期间，老年患者表现出提示血管和心脏老化的血流动力学变化。具体而言，老年患者的最低收缩压、舒张压、最低平均动脉压和心率较低，而收缩压波动更高（P = 0.008）。此外，年轻患者的SDHB突变率显著更高（5.5%对1.0%），VHL突变率也更高（13.3%对7.3%，P = 0.003）。HRAS突变在老年患者中更常见（10.5%对21.3%，P < 0.001）。IDH1突变仅发生在老年患者中（0.56%，5/887）。
老年PPGL患者具有独特的临床和遗传特征。这些差异凸显了针对不同年龄组进行个性化诊断和治疗的重要性，特别是在制定术前准备策略以改善老年患者的血管和心脏功能方面。
