We report on our experience with two patients with pheochromocytoma. One patie nt underwent surgery of pheochromocytoma at the age of 30 y; 18 y later, medulla ry thyroid carcinoma (MTC) was detected in his son. Subsequently, multiple endoc rine neoplasia (MEN) type 2A was diagnosed by genetic examination in both father and son. Further diagnostic procedures also revealed an MTC in the father. The other patient suffered from bifocal pheochromocytoma of the left suprarenal glan d. Diagnostic work-up revealed papillary thyroid carcinoma, which was also dete cted in the mother 8 mo later. Whereas a point mutation in SDHB gene was found i n the son, no genetic abnormality was detected in the mother. Conclusion: Every pheochromocytoma in childhood warrants further diagnostic work-up, including ge netic examination. In addition, clinical data of patients suffering from pheochr omocytoma and papillary thyroid carcinoma should be collected by an internationa l registry, and a joint effort should be undertaken in order to define possible underlying mutated genes in these patients.
展开▼
