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

TL;DR

This paper reports a rare case of metastatic recurrence in a patient with MEN2-related pheochromocytoma, including a biochemical phenotype shift.

Contribution

The novelty lies in detailing biochemical changes during metastatic recurrence of MEN2-related pheochromocytoma, a rare occurrence.

Findings

Metastatic recurrence of MEN2-related pheochromocytoma is rare and often fatal.

A biochemical shift was observed with increased normetanephrine levels in spot urine.

Chemotherapy was ineffective in managing the metastatic disease.

Abstract

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.

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