Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma

The incidence of metastatic recurrence in multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytoma is low, and reports are scarce. Moreover, there are no reports detailing changes in biochemical findings at the time of metastatic recurrence. We describe here the case of a woman in her 40s with MEN2-related pheochromocytoma. She exhibited an increase in spot urine normetanephrine levels 2 years and 8 months after laparoscopic right adrenalectomy for right pheochromocytoma, leading to the diagnosis of peritoneal dissemination and distant metastasis. She underwent chemotherapy, which was ineffective, and died 3 years and 2 months after the initial surgery. Metastasis and recurrence of MEN2-related pheochromocytoma are rare, and a change in the biochemical phenotype is also uncommon. Therefore, we report the clinical course of this case in detail.