TMEM-127 gene mutation: A rare genetic entity associated with metastatic bilateral pheochromocytoma

Abstract

A 30-year pregnant woman was unexpectedly diagnosed with pheochromocytoma during obstetric follow-up. The patient – initially treated with optimal medical therapy – underwent elective C-section followed by right adrenalectomy. In the postoperative period, complete tumor resection was confirmed by negative biochemical tests. Ten years later, the patient developed new symptoms suggestive of catecholaminergic hypersecretion and biochemical tests documented increased urinary fractionated metanephrines. In the postoperative biochemical testing and imaging, persistent disease was documented. During follow-up, repeated imaging modalities evidenced the presence of hepatic and peritoneal metastasis. Genetic testing documented a germline pathogenic variant (c.410-2A>C) in the TMEM-127 gene, a rare pheochromocytoma etiology that typically presents as unilateral adrenal lesion with rare metastatic behavior. The authors underline less frequent findings described in the literature – bilaterality and metastatic behavior – and emphasize the absence of aggressive prognostic markers at initial clinical presentation.