Details

Autor(en) / Beteiligte

• Pamporaki, Christina
• Hamplova, Barbora
• Peitzsch, Mirko
• Prejbisz, Aleksander
• Beuschlein, Felix
• Timmers, Henri J.L.M
• Fassnacht, Martin
• Klink, Barbara
• Lodish, Maya
• Stratakis, Constantine A
• Huebner, Angela
• Fliedner, Stephanie
• Robledo, Mercedes
• Sinnott, Richard O
• Januszewicz, Andrzej
• Pacak, Karel
• Eisenhofer, Graeme

Titel

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

Ist Teil von

• The journal of clinical endocrinology and metabolism, 2017-04, Vol.102 (4), p.1122-1132

Ort / Verlag

Washington, DC: Endocrine Society

Erscheinungsjahr

2017

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• 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. This study establishes the link between extraadrenal, multifocal, metastatic, reccurent, hereditary PPGLs to a higher prevalence of noradrenergic and cluster 1 tumors in pediatric than adults.