title: Sporadic phaeochromocytoma in childhood: clinical and molecular variability.
abstract: Sporadic phaeochromocytoma is an infrequent tumour during paediatric age and may or may not be associated with specific autosomal dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL) type 2 or neurofibromatosis (NF) type 1. We report two cases of benign, adrenal, and unilateral phaeochromocytoma that clearly demonstrate the clinical and molecular heterogeneity of this disease during the paediatric period. The first patient presented a characteristic symptomatic form of sporadic phaeochromocytoma. The second patient, an incidental finding, was practically asymptomatic and had a de novo germline point mutation in the VHL gene (Arg167Trp). The frequency of de novo mutations in susceptible genes (especially the VHL gene) in paediatric patients with sporadic phaeochromocytoma and the elevated mortality of these cancer syndromes suggest that screening for mutations should be performed even in cases of non-familial sporadic phaeochromocytoma.
authors.affiliation: Department of Paediatric Endocrinology & Laboratory of Research, University Autónoma, Hospital Infantil Universitario "Niño Jesús", Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Pozo
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Muñoz
authors.forename: Gabriel
authors.initials: G
authors.lastname: Martos
authors.forename: Jesús
authors.initials: J
authors.lastname: Argente
mesh_terms: D019797:3-Iodobenzylguanidine; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D000315:Adrenalectomy; D002648:Child; D006801:Humans; D008297:Male; D009638:Norepinephrine / Q000652:urine; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D019275:Radiopharmaceuticals; D014057:Tomography, X-Ray Computed
chemical_list: D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine; D009638:Norepinephrine