Biochemical diagnosis of pheochromocytoma/paraganglioma in children and adolescents

Kristin Potthoff; Tamara Prodanov; Lara Knigge; Sara Talvacchio; Angela Hubner; Stefan Bornstein; Jacques Lenders; Mirko Peitzsch; Karel Pacak; Graeme Eisenhofer; Christina Pamporaki

doi:10.1530/endoabs.99.EP252

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Endocrine Abstracts (2024) 99 EP252 | DOI: 10.1530/endoabs.99.EP252

ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)

Biochemical diagnosis of pheochromocytoma/paraganglioma in children and adolescents

Kristin Potthoff ¹ , Tamara Prodanov ² , Lara Knigge ¹ , Sara Talvacchio ² , Angela Hübner ³ , Stefan Bornstein ¹ , Jacques Lenders ⁴ , Mirko Peitzsch ⁵ , Karel Pacak ² , Graeme Eisenhofer ¹ & Christina Pamporaki ¹

Err

Author affiliations

¹University Hospital Carl Gustav Carus at the TU Dresden, Department of Medicine III, Dresden, Germany; ²National Institutes of Health (NIH), Eunice Kennedy Shriver, National Institute of Child Health and Human Development, Bethesda, United States; ³University Hospital Carl Gustav Carus at the TU Dresden, Department of Pediatrics, Dresden, Germany; ⁴Radboud University Medical Center, Department of Internal Medicine, Nijmegen, Netherlands; ⁵University Hospital Carl Gustav Carus at the TU Dresden, Institute of Clinical Chemistry and Laboratory Medicine, Dresden, Germany

Introduction: Currently, it is unclear whether plasma free or 24-hour urinary metanephrines are preferable for diagnosis of pheochromocytoma/paraganglioma (PPGL) in children.

Objectives: To investigate whether measurements of plasma free or 24-hour urinary fractionated metanephrines is a reliable test for screening for PPGL in children.

Methods: This retrospective study included data from 60 children with and 78 without PPGL. Data included sex, age (5-18 years), plasma concentrations of free metanephrines, and genetic test results. For a subset group of 87 children tested for PPGL, concentrations of 24-hour urinary metanephrines were also available. For patients with PPGL, data also included tumor location, size, tumor catecholamine phenotype, and presence of recurrent and/or metastatic disease.

Results: Among children with PPGL, the plasma panel presented with larger fold-normetanephrine increases above the upper cut-offs (8-fold vs 3-fold, P <0.001) compared to the urinary metabolites. The plasma panel showed a diagnostic sensitivity and specificity of 100% and 93% respectively compared to 94% and 88% for the urinary panel. Measurements of plasma free metabolites offered similar diagnostic performance (AUC:0.987, 95%CI:0.969-1.00) to 24-hour urinary fractionated metanephrines (AUC:0.972, 95%CI:0.942-1.00). Sub-analysis of intra-individual temporal measurements of metabolites showed that subsequent increases larger than 35% in plasma normetanephrine over time can signal early stage development of a noradrenergic PPGL.

Conclusions: Plasma free and 24-hour urinary fractionated metanephrines are both reliable screening tests for PPGL in children and adolescents. The plasma panel may be useful for early detection of noradrenergic PPGL relevant for children tested within surveillance programs due to hereditary risk of noradrenergic tumors.