嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGL)是罕见的神经内分泌肿瘤,80%~85%是起源于肾上腺髓质的嗜铬细胞瘤。15%~20%为交感神经(胸部、腹部和骨盆)或副交感神经(头颈部)的PPGL[1]。关于PPGL流行病学的相关...嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGL)是罕见的神经内分泌肿瘤,80%~85%是起源于肾上腺髓质的嗜铬细胞瘤。15%~20%为交感神经(胸部、腹部和骨盆)或副交感神经(头颈部)的PPGL[1]。关于PPGL流行病学的相关研究很少。丹麦最近的一项研究显示,在过去的40年中,PPGL的发病率不断上升,年发病率从1.4/100万人上升到6.6/100万人,增加了4.8倍。这种增长主要归因于临床影像学技术的发展,直径小于4cm的肿瘤且无明显儿茶酚胺阵发症状的患者通过筛查确诊[2]。展开更多
Pheochromocytomas and paragangliomas(PPGLs)cause symptoms by altering the circulation levels of catecholamines and peptide hormones.Currently,the diagnosis of PPGLs relies on diagnostic imaging and the detection of ca...Pheochromocytomas and paragangliomas(PPGLs)cause symptoms by altering the circulation levels of catecholamines and peptide hormones.Currently,the diagnosis of PPGLs relies on diagnostic imaging and the detection of catecholamines.In this study,we used ultra-performance liquid chromatography(UPLC)/quadrupole time-of-flight mass spectrometry(Q-TOF MS)analysis to identify and measure the perioperative differential metabolites in the plasma of adrenal pheochromocytoma patients.We identified differentially expressed genes by comparing the transcriptomic data of pheochromocytoma with the normal adrenal medulla.Through conducting two steps of metabolomics analysis,we identified 111 differential metabolites between the healthy group and the patient group,among which 53 metabolites were validated.By integrating the information of differential metabolites and differentially expressed genes,we inferred that the cysteine-methionine,pyrimidine,and tyrosine metabolism pathways were the three main metabolic pathways altered by the neoplasm.The analysis of transcription levels revealed that the tyrosine and cysteine-methionine metabolism pathways were downregulated in pheochromocytoma,whereas the pyrimidine pathway showed no significant difference.Finally,we developed an optimized diagnostic model of two metabolites,L-dihydroorotic acid and vanylglycol.Our results for these metabolites suggest that they may serve as potential clinical biomarkers and can be used to supplement and improve the diagnosis of pheochromocytoma.展开更多
嗜铬细胞瘤与副神经节瘤(phaeochromocytomas and paragangliomas,PPGLs)是一类少见的神经内分泌肿瘤,源于肾上腺髓质嗜铬细胞或肾上腺外的交感与副交感神经,超过三分之一肿瘤与胚系基因突变有关。胚系基因突变可以使肿瘤具有多种不同...嗜铬细胞瘤与副神经节瘤(phaeochromocytomas and paragangliomas,PPGLs)是一类少见的神经内分泌肿瘤,源于肾上腺髓质嗜铬细胞或肾上腺外的交感与副交感神经,超过三分之一肿瘤与胚系基因突变有关。胚系基因突变可以使肿瘤具有多种不同的代谢方式,从而直接影响患者的临床表现及随访管理。因此,PPGLs的基因组学特点与其生物学行为、影像学表现、基因筛查和患者管理具有十分密切的关系。本文就PPGLs基因组学新进展及其意义进行综述。展开更多
目的:开发并验证一种线性模型,用于预测影响嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)术后出现低血压的因素及概率。方法:本研究收集了2011年1月1日至2023年12月31日在重庆医科大学附属第一医院泌尿外科接...目的:开发并验证一种线性模型,用于预测影响嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)术后出现低血压的因素及概率。方法:本研究收集了2011年1月1日至2023年12月31日在重庆医科大学附属第一医院泌尿外科接受腹膜后肿瘤切除并经过病理学诊断为PPGLs的315例患者,记录每位患者的人口学特征,基础疾病、疾病特征、α肾上腺受体拮抗剂使用情况、24 h尿香草扁杏仁酸(vanillylmandelic acid,VMA)、术中资料及术后资料,将血压低于术前30%或者术后需要升压药维持的患者纳入低血压组。而后采用LASSO回归对数据进行特征缩减和筛选,然后利用多元逻辑回归分析建立预测模型。通过ROC曲线、校准曲线和临床有用性来评估该预测模型的表现。结果:预测模型中包含的预测因子包括24 h尿香草扁杏仁酸、α肾上腺受体拮抗剂使用情况、肿瘤大小以及手术失血量。该模型显示出良好的区分能力,C指数为0.882(95%CI=0.872~0.886),并且具有良好的校准性,ROC值为0.88。决策曲线分析显示具有临床价值。结论:本研究提供了一个可靠的预测模型,该预测模型对PPGLs患者术后出现低血压的情况进行术前个体化预测,为患者围手术期治疗和术后恢复方案提供依据。展开更多
文摘嗜铬细胞瘤和副神经节瘤(pheochromocytomas and paragangliomas,PPGL)是罕见的神经内分泌肿瘤,80%~85%是起源于肾上腺髓质的嗜铬细胞瘤。15%~20%为交感神经(胸部、腹部和骨盆)或副交感神经(头颈部)的PPGL[1]。关于PPGL流行病学的相关研究很少。丹麦最近的一项研究显示,在过去的40年中,PPGL的发病率不断上升,年发病率从1.4/100万人上升到6.6/100万人,增加了4.8倍。这种增长主要归因于临床影像学技术的发展,直径小于4cm的肿瘤且无明显儿茶酚胺阵发症状的患者通过筛查确诊[2]。
基金supported by the National Natural Science Foundation of China(No.82072811).
文摘Pheochromocytomas and paragangliomas(PPGLs)cause symptoms by altering the circulation levels of catecholamines and peptide hormones.Currently,the diagnosis of PPGLs relies on diagnostic imaging and the detection of catecholamines.In this study,we used ultra-performance liquid chromatography(UPLC)/quadrupole time-of-flight mass spectrometry(Q-TOF MS)analysis to identify and measure the perioperative differential metabolites in the plasma of adrenal pheochromocytoma patients.We identified differentially expressed genes by comparing the transcriptomic data of pheochromocytoma with the normal adrenal medulla.Through conducting two steps of metabolomics analysis,we identified 111 differential metabolites between the healthy group and the patient group,among which 53 metabolites were validated.By integrating the information of differential metabolites and differentially expressed genes,we inferred that the cysteine-methionine,pyrimidine,and tyrosine metabolism pathways were the three main metabolic pathways altered by the neoplasm.The analysis of transcription levels revealed that the tyrosine and cysteine-methionine metabolism pathways were downregulated in pheochromocytoma,whereas the pyrimidine pathway showed no significant difference.Finally,we developed an optimized diagnostic model of two metabolites,L-dihydroorotic acid and vanylglycol.Our results for these metabolites suggest that they may serve as potential clinical biomarkers and can be used to supplement and improve the diagnosis of pheochromocytoma.
文摘嗜铬细胞瘤与副神经节瘤(phaeochromocytomas and paragangliomas,PPGLs)是一类少见的神经内分泌肿瘤,源于肾上腺髓质嗜铬细胞或肾上腺外的交感与副交感神经,超过三分之一肿瘤与胚系基因突变有关。胚系基因突变可以使肿瘤具有多种不同的代谢方式,从而直接影响患者的临床表现及随访管理。因此,PPGLs的基因组学特点与其生物学行为、影像学表现、基因筛查和患者管理具有十分密切的关系。本文就PPGLs基因组学新进展及其意义进行综述。
