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lüll Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?Pigny P; Cardot-Bauters C; Do Cao C; Vantyghem MC; Carnaille B; Pattou F; Caron P; Wemeau JL; Porchet NEur J Endocrinol 2009[Feb]; 160 (2): 227-31BACKGROUND: According to previous studies, around 15% of patients with an apparently sporadic pheochromocytoma and a negative family history had a hereditary disease. This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each patient with a pheochromocytoma. OBJECTIVE: To check the efficiency of systematic genetic screening in patients with apparently sporadic pheochromocytoma, by analysing the 6 years experience of a multidisciplinary team in this field. METHODS: One hundred patients with a pheochromocytoma-only phenotype and no family history were included. Patients with extra-adrenal tumours were excluded. Prevalence of hereditary forms was determined and analyzed according to age at onset, sex. Cost of the genetic analysis was calculated. RESULTS: A germline mutation in one of the five susceptibility genes (VHL, RET, SDHD, SDHC, SDHB) was identified in eight patients (8%) with an age of onset between 13 and 57 years. Among them, six had a bilateral pheochromocytoma and only two had a unilateral tumour. If the guidelines for genetic screening were age of onset less than 50 or bilateral pheochromocytoma, no patients with a hereditary tumour would be missed and a 24% cost reduction would be achieved. CONCLUSIONS: According to these data, a genetic predisposition test for hereditary pheochromocytoma seems not recommended in patients with a unilateral adrenal tumour diagnosed after 50 in the absence of familial, clinical, biological or imaging features for a familial disease.|*Germ-Line Mutation[MESH]|Adolescent[MESH]|Adrenal Gland Neoplasms/epidemiology/*genetics[MESH]|Adult[MESH]|Age of Onset[MESH]|Cost-Benefit Analysis[MESH]|Family Health[MESH]|Female[MESH]|Genetic Predisposition to Disease/epidemiology[MESH]|Genetic Testing/*economics[MESH]|Humans[MESH]|Male[MESH]|Middle Aged[MESH]|Phenotype[MESH]|Pheochromocytoma/epidemiology/*genetics[MESH]|Prevalence[MESH]|Young Adult[MESH] |