Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas.

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.

• Authors: Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 102 Issue 4 Pg. 1122-1132 (Apr 01 2017) ISSN: 1945-7197 [Electronic] United States
• PMID: 28324046 (Publication Type: Comparative Study, Journal Article, Multicenter Study)
• Copyright: Copyright © 2017 by the Endocrine Society

Topics

• Adolescent
• Adrenal Gland Neoplasms (epidemiology, genetics, pathology)
• Adult
• Age of Onset
• Child
• Cross-Sectional Studies
• Female
• Genetic Testing
• Humans
• Male
• Middle Aged
• Neoplasm Metastasis
• Neoplasm Recurrence, Local (epidemiology, genetics)
• Paraganglioma (epidemiology, genetics, pathology)
• Pheochromocytoma (epidemiology, genetics, pathology)
• Prevalence
• Retrospective Studies