CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
A patient with bilateral pheochromocytoma harbouring a germline V804M mutation and polymorphism L769L in the RET protooncogen.
Autor/es:
BELLI SB; DELETTIERES D; NEUMAN I; PODESTA EJ; BARONTINI M; SOLANO AR
Lugar:
Delphi, Grecia
Reunión:
Congreso; 11 International Workshop on Multiple Endocrine Neoplasia; 2008
Resumen:
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.