Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

Pamporaki, Christina; Hamplova, Barbora; Peitzsch, Mirko; Prejbisz, Aleksander; Beuschlein, Felix; Timmers, Henri J. L. M.; Fassnacht, Martin; Klink, Barbara; Lodish, Maya; Stratakis, Constantine A.; Hübner, Angela; Fliedner, Stephanie; Robledo, Mercedes; Sinnott, Richard O.; Januszewicz, Andrzej; Pacak, Karel und Eisenhofer, Graeme (2017): Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas. In: Journal of Clinical Endocrinology & Metabolism, Bd. 102, Nr. 4: S. 1122-1132

Abstract

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0021-972X
• Sprache: Englisch