Characteristics of Pheochromocytoma in a 4‐ to 20‐Year‐Old Population

Abstract

Hypertension in children and adolescents has become a major health problem recently recognized, and in a significant number of patients it is due to an endocrine tumor. The aim of this study was to establish the characteristics of pheochromocytoma in a population of 58 patients between 4 and 20 years of age studied at our Center. They represented a 23% of the total population of 255 pheochromocytoma patients studied. In the younger group (under 20 years of age), there was a marked predominance of severe sustained hypertension (93%), only 7% presented paroxysmal hypertension and none of them was normotensive. The youngsters studied showed a higher incidence of bilateral adrenal pheochromocytoma (34%) and extra-adrenal pheochromocytoma (22%). Malignancy was found in 12% of these patients. In addition, the incidence of familial pheochromocytoma was elevated in these patients (39%). Surprisingly, in contrast with the adult population where the most frequent familial pheochromocytomas were multiple endocrine neoplasia (MEN) type 2A (15%), the younger population showed a higher predominance of von Hippel-Lindau (VHL) (28%) and lower incidence of MEN 2A, MEN 2B, neurofibromatosis (NF), and succinate dehydrogenase subunit B (SDHB). In the VHL group, only two patients belonging to one family, showed the R167W mutation, while the others showed novel mutations in conserved amino acids. It may be speculated that the high incidence of VHL in youngsters may account for the biochemical and clinical features they usually present.

Long-term prognosis of patients with pediatric pheochromocytoma

“…This population-based frequency was even higher than expected compared with published data from smaller pediatric series of 22-70% (Ciftci et al 2001, Neumann et al 2002, Barontini et al 2006, De Krijger et al 2006, Cascon et al 2013. The affected genes are dominated by VHL followed by SDHB, SDHD, and NF1.…”

“…Children usually suffer from symptomatic and potentially life-threatening occurrence with bilateral and extraadrenal tumors (Stackpole et al 1963, Ein et al 1990, Ciftci et al 2001, Barontini et al 2006. Prevalence of hereditary and malignant tumors is controversial, but of utmost importance for quality-of-life considerations and survivorship (Ross 2000, Barontini et al 2006, De Krijger et al 2006, Pham et al 2006, King et al 2011. So far, no data from large population-based registries or long-term surveillance are available.…”

“…Approximately 20% of pheochromocytomas and paragangliomas are diagnosed in children, predominantly males (Stackpole et al 1963, Kaufman et al 1983, Ciftci et al 2001, Barontini et al 2006. Children usually suffer from symptomatic and potentially life-threatening occurrence with bilateral and extraadrenal tumors (Stackpole et al 1963, Ein et al 1990, Ciftci et al 2001, Barontini et al 2006. Prevalence of hereditary and malignant tumors is controversial, but of utmost importance for quality-of-life considerations and survivorship (Ross 2000, Barontini et al 2006, De Krijger et al 2006, Pham et al 2006, King et al 2011.…”

“…So far, no data from large population-based registries or long-term surveillance are available. Reports focused on pediatric patients are mostly based on few cases (Stackpole et al 1963, Kaufman et al 1983, Ein et al 1990, Ross 2000, Ciftci et al 2001, Barontini et al 2006, De Krijger et al 2006, Pham et al 2006, King et al 2011. Therefore, we sought to systematically perform molecular and clinical characterization of pediatric pheochromocytoma and paraganglioma to determine the long-term prognosis and outcomes in an international population-based registry.…”

“…However, the subgroup of pediatric pheochromocytoma is poorly studied, despite their important clinical consequences. Approximately 20% of pheochromocytomas and paragangliomas are diagnosed in children, predominantly males (Stackpole et al 1963, Kaufman et al 1983, Ciftci et al 2001, Barontini et al 2006. Children usually suffer from symptomatic and potentially life-threatening occurrence with bilateral and extraadrenal tumors (Stackpole et al 1963, Ein et al 1990, Ciftci et al 2001, Barontini et al 2006.…”