Abstract
Objective Adrenal tumors are generally rare in children and can be a part
of familial cancer syndrome. This research was conducted to examine the clinical
outcomes, histopathological results, and genetic etiologies of adrenal tumors in
children and adolescents.
Methods Thirty-one children and adolescents with adrenal tumors were
included. Data on clinical outcomes and endocrine and radiologic results were
retrospectively analyzed. Molecular analysis was conducted in select patients
according to their phenotype and family history.
Results The median age at diagnosis was 7.9 years (range: 0.8−17.8
years) with 5.1±1.8 cm of maximum tumor diameter. Adrenal
adenoma (n=7), carcinoma (n=5), borderline (n=2),
isolated micronodular adrenocortical disease (n=2), pheochromocytoma
(n=8), paraganglioma (n=3), and ganglioneuroma (n=4) are
all pathological diagnoses. The most common presenting symptom was excess
production of adrenocortical hormones (n=15), including virilization and
Cushing syndrome. Non-functioning adrenocortical tumors were found in a patient
with congenital adrenal hyperplasia. Genetic etiologies were identified in
TP53 (n=5), VHL (n=4), and PRKACA
(n=1). Patients with mutations in TP53 were young
(1.5±0.5 years) and had large masses (6.1±2.3 cm).
Conclusions This study describes clinical outcomes and the pathological
spectrum of adrenal tumors in children and adolescents. Adrenocortical tumors
mostly presented with an excess of the adrenocortical hormone. Patients with
genetic defects presented at a young age and large size of tumors, necessitating
genetic testing in patients at a young age.
Key words
adrenal tumor - Li Fraumeni syndrome - von Hippel-Lindau disease - pheochromocytoma
