A patient with bilateral pheochromocytoma harbouring a germline V804M mutation and polymorphism L769L in the RET protooncogen.

BELLI SB; DELETTIERES D; NEUMAN I; PODESTA EJ; BARONTINI M; SOLANO AR

Delphi, Grecia

Congreso; 11 International Workshop on Multiple Endocrine Neoplasia; 2008

Patient: 48 years woman, with abdominal and lumbar spread pain. Ultrasound: Bilateral adrenal tumor. The right mass was described as a cystic tumor. Additional clinical data: Normal blood pressure, frecuency, ECG. She referred episodes of tachycardia, when laying down on the right side. Normal levels of: cortisol, ACTH, DHEA, K, glucose, noradrenaline, VMA, T4, TSH, PTH, CT basal and under pentagastrine stimulation; however she presented high adrenaline levels. She referred to be medicated with thyroxine to treat a putative hypothyroidism inconsistently controlled. CT: Right: Solid cystic tumor, 10 cm diameter; left: solid polycystic tumor 6 cm diameter. Surgery: Bilateral adrenalectomy. Right tumor: 15 cm; left tumor 10 cm. Pathology report: classical pheochromocytoma. Chromogranine positive Thyroid ultrasound: Right: 34x10x10 mm heterogeneaus with hypoechogenic images. Left: 33x9x10 mm with small anechoic images (< 7 mm) compatible with colloid cysts. Molecular analysis: Von Hippel Lindau normal Protooncogen RET: V804M in exon 14 and polymorphism L769L in exon 13. Familial data: brother with papilliferous thyroid cancer Concluding remarks: This is a case with a mutation for familial medullar thyroid carcinoma, in a patient with bilateral pheochromocytoma as initial clinical presentation. This finding has clinical implications regarding the patient and her realtives.