Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
复制标题
DOI：
10.1210/jc.2016-3829
复制
发表时间：
2017-04-01
影响因子：
5.8
通讯作者：
Eisenhofer, Graeme
中科院分区：
文献类型：
--
作者：
Pamporaki, Christina;Hamplova, Barbora;Eisenhofer, Graeme
内容：儿童嗜铬细胞瘤和副神经节瘤（PPGL）通常是遗传性的，与成人相比可能具有不同的特征。遗传性PPGL可分为簇1和簇2肿瘤，由于突变影响缺氧和激酶受体信号通路，分别为Objective：To identify differences in presentation of PPGL between children and adults.Design：A retrospective cross-sectional clinical study.Setting：Seven tertiary medical centers.Patients：The study included 748 pPGLs patients，including 95 with a first presentation during childhood.对611名患者进行了基因检测。其他数据包括原发性肿瘤的位置、复发或转移性疾病的存在以及血浆中的metanephrines和3-甲氧基酪胺的浓度。儿童表现出较高的（P <0.0001）遗传性肥胖的患病率高于成人。（80.4% vs 52.6%）、肾上腺外（66.3% vs 35.1%）、多灶性（32.6% vs 13.5%）、转移性（49.5% vs 29.1%）和复发性（29.5% vs 14.2%）PPGL。由于簇1突变导致的肿瘤在儿童中比成人更普遍（76.1% vs 39.3%; P，0.0001），这表明儿童中去甲肾上腺素能肿瘤的患病率高于成人，其特征是相对缺乏血浆代谢产物的增加（93.2% vs 57.3%; P，0.0001）。结论：儿童中遗传性、肾上腺外、多灶性和转移性PPGL的患病率高于成人，这代表了相互关联的特征，在某种程度上，反映了去甲肾上腺素能簇1比肾上腺素能簇2肿瘤的疾病表现的较低年龄。在由于已知突变或既往肿瘤史而有PPGL风险的儿童中，疾病表现的差异是重要的。
Context: Pheochromocytomas and paragangliomas ( PPGLs) in children are often hereditary and may present with different characteristics compared with adults. Hereditary PPGLs can be separated into cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways, respectively.Objective: To identify differences in presentation of PPGLs between children and adults.Design: A retrospective cross-sectional clinical study.Setting: Seven tertiary medical centers.Patients: The study included 748 patients with PPGLs, including 95 with a first presentation during childhood. Genetic testing was available in 611 patients. Other data included locations of primary tumors, presence of recurrent or metastatic disease, and plasma concentrations of metanephrines and 3-methoxytyramine.Results: Children showed higher ( P, 0.0001) prevalence than adults of hereditary ( 80.4% vs 52.6%), extra-adrenal ( 66.3% vs 35.1%), multifocal ( 32.6% vs 13.5%), metastatic ( 49.5% vs 29.1%), and recurrent ( 29.5% vs 14.2%) PPGLs. Tumors due to cluster 1 mutations were more prevalent among children than adults ( 76.1% vs 39.3%; P, 0.0001), and this paralleled a higher prevalence of noradrenergic tumors, characterized by relative lack of increased plasma metanephrine, in children than in adults ( 93.2% vs 57.3%; P, 0.0001).Conclusions: The higher prevalence of hereditary, extra-adrenal, multifocal, and metastatic PPGLs in children than adults represents interrelated features that, in part, reflect the lower age of disease presentation of noradrenergic cluster 1 than adrenergic cluster 2 tumors. The differences in disease presentation are important to consider in children at risk for PPGLs due to a known mutation or previous history of tumor.