655 ISOLATED PHAECHROMOCYTOMA

Abstract

Introduction: Phaechromocytoma is a neuroendocrine tumor associated with a variety of genetic disorders wich include(VHL),multiple endocrine neoplasia type2,Neurofibromatosis type 1 and hereditary pargangliomas.These hereditary syndrome are respectively caused by respectively mutation in VHL tumor suppressor gene,RET protooncogene,NF1 gene and gene coding succinate deshydrogenase SDHB,SDHC and SDHD.It is currently estimated that 20% of phaechromacytoma are associated with germline mutation.VHL predispose affected individual to develop retinal and central nervous hemangioblastoma, renal celle carcinoma and phaechromocytoma. We report a novel VHL germ-line mutation in a family with occurrence of isolated phaechromocytoma. Case: The 38 years old, caucasian male was admitted in hospital for major weakness, sweating ; body loss,elevated pressure, moderate renal failure ;Hypokalaemia. Plasma renine aldosterone activity is high, plasma fractionnal free metanephrine is very high Proteinuria :3 gr/24 h, microscopic haematuria. urinary normetadrenaline was very high 15916ng/24 h (normal < 200). Radiologic test: Brain, spinal, abdominal and thoraco abdominal CT scan, showed bilateral surrenale mass, left measured 4.5*3.5*4 cm, right 4.5*4*4.4 cm .MIBG scintigraphy : cervical para ganglioma. Patient have had bilateral adrenalectomy. Genetic analysis: VHL germline mutation was identified in the patient and family members.The c.640T > A mutation detected in our reported family has not been previously described. Discussion: This patient had presented phaechromocytoma in association and without other manifestation of VHL disease. The association of this mutation (c.640 > A) with phaechromocytoma only, variant of VHL disease, might be considered. To confirm this suggestion it seems reasonnable to subject these patient to lifelong follow up.