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Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
Christina Pamporaki1, Barbora Hamplova2, Mirko Peitzsch3
1Departments of Medicine ??I and.
Insights
Pediatric pheochromocytomas and paragangliomas (PPGLs) are more often hereditary, extra-adrenal, and metastatic than adult PPGLs. These differences are linked to cluster 1 mutations and noradrenergic tumors presenting earlier in childhood.
Area of Science:
- Endocrinology
- Pediatric Oncology
- Genetics
Background:
- Pheochromocytomas and paragangliomas (PPGLs) in children often have a hereditary basis and distinct clinical features compared to adults.
- Hereditary PPGLs are classified into cluster 1 (hypoxia pathway mutations) and cluster 2 (kinase receptor signaling pathway mutations).
Purpose of the Study:
- To investigate and delineate the differences in the presentation of PPGLs between pediatric and adult patient populations.
Main Methods:
- A retrospective, cross-sectional clinical study was conducted across seven tertiary medical centers.
- Data from 748 patients with PPGLs, including 95 pediatric cases, were analyzed.
- Genetic testing, tumor location, metastatic/recurrent disease status, and plasma catecholamine metabolite levels were assessed.
Main Results:
- Children exhibited significantly higher rates 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 compared to adults.
- Cluster 1 mutations were more prevalent in pediatric PPGLs (76.1% vs. 39.3%), correlating with a higher incidence of noradrenergic tumors in children (93.2% vs. 57.3%).
Conclusions:
- The increased prevalence of hereditary, extra-adrenal, multifocal, and metastatic PPGLs in children is interconnected and partly explained by the earlier disease presentation of noradrenergic cluster 1 tumors compared to adrenergic cluster 2 tumors.
- Recognizing these distinct presentation patterns is crucial for managing children at risk for PPGLs, especially those with known mutations or prior tumor history.
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.
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