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
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.
