FAMILIAL ISOLATED PHEOCHROMOCYTOMA PRESENTING A NEW MUTATION IN THE VHL GENE.

GABRIELA SANSÓ; MARIA C GARCÍA RUDAZ; GLORIA LEVIN; MARTA BARONTINI

AMERICAN JOURNAL OF HYPERTENSION

NATURE PUBLISHING GROUP

Año: 2004 vol. 17 p. 1107 - 1111

0895-7061

We report a novel germline point mutation in the vhl gene in a family with infancy occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extraadrenal localization. Both patients presented cardiac arrest while exposed to surgical stress whereas severe hypoglycemia was registered in the son. The outcome was uneventful. DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the VHL type 2C phenotype. Whether this mutation is linked to the metabolic alterations developed by these patients remains to be determined.