A diagnosis of bilateral pheochromocytoma warrants exclusion of hereditary pheochromocytoma.
Objective: To describe the first case of a bilateral pheochromocytoma associated with V804M mutation in the RET proto-oncogene.
Patients: The index case was a 54-year-old man with bilateral adrenal masses discovered during a CT scan performed for other reasons.
Measurements: Genetic analysis included exons 8-11 and 13-17 in the RET proto-oncogene, all four exons and flanking intronic regions in the SDHD gene, all eight exons and flanking intronic regions in the SDHB, and all three exons in the VHL gene.
Results: Investigations revealed elevated urinary metanephrines (32.3 micromol/day), and laparoscopic bilateral adrenalectomy confirmed bilateral pheochromocytomas. A heterozygous V804M mutation in exon 14 of the RET was found in the index case and in four relatives. Total thyroidectomy, performed in four of five affected members in this kindred, disclosed a medullary thyroid carcinoma in the index case and in a 50-year-old woman, and nodular C-cell hyperplasia in the other two subjects.
Conclusions: This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.