Surgical Remission of Diabetes in a Patient With Mutation of RET Proto-Oncogene.

Content Provider	Europe PMC
Author	Concepción Zavaleta, Marcio José Armas Flórez, Cristian David Benites Moya, Cesar Joel Plasencia Dueñas, Esteban Alberto Ildefonso Najarro, Sofia Pilar Palomino Taype, Kely Durand Torres, Ricardo Massucco Revoredo, Frederick
Copyright Year	2021
Abstract	ObjectiveIn pheochromocytomas, accelerated catecholamine production can cause secondary diabetes. The gene responsible for multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytomas is the RET proto-oncogene. The objective of this report is to describe a unique case of surgical remission of misdiagnosed type 2 diabetes mellitus (T2DM) in a woman with bilateral pheochromocytoma and RET proto-oncogene mutation.MethodsClinical examination, urinary metanephrine level, triple-phase abdominal computed tomography (CT) with adrenal protocol, positron emission tomography with 18F-fluorodeoxyglucose integrated with CT, surgical pathology, and genetic testing were performed.ResultsA 46-year-old woman with a 5-year history of apparent T2DM complicated by neuropathy, without a contributory family history, presented with occasional headaches, weight loss, and abdominal pain. A 24-hour urinary metanephrine of 5 mg (reference range, 0.05-1 mg) was found. Abdominal CT showed bilateral adrenal masses with <60% washout. Positron emission tomography with 18F-fluorodeoxyglucose integrated with CT showed a left solid-cystic lesion with low metabolic activity and a right nodular lesion with a higher metabolic activity, which was conclusive of bilateral pheochromocytoma. The remission of diabetes was achieved 1 year after a bilateral adrenalectomy. In addition, a multinodular goiter was found, and a fine-needle aspiration biopsy confirmed that it was a medullary thyroid carcinoma. A heterozygous pathogenic variant of the RET proto-oncogene was found and MEN2A was confirmed.ConclusionThis is the first report of a patient with a RET proto-oncogene mutation experiencing remission of diabetes after surgical resection of bilateral pheochromocytomas. Timely recognition and treatment of the underlying condition are important to potentially achieve diabetes remission and prevent its long-term complications.
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Journal	AACE Clinical Case Reports [AACE Clin Case Rep]
Volume Number	7
DOI	10.1016/j.aace.2021.01.010
PubMed Central reference number	PMC8282531
Issue Number	4
PubMed reference number	34307848
e-ISSN	23760605
Language	English
Publisher	American Association of Clinical Endocrinology
Publisher Date	2021-02-05
Access Restriction	Open
Rights License	This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). © 2021 AACE. Published by Elsevier Inc.
Subject Keyword	diabetes pheochromocytoma MEN2A RET mutation CT, computed tomography MEN2A, multiple endocrine neoplasia type 2A T2DM, type 2 diabetes mellitus
Content Type	Text
Resource Type	Article
Subject	Endocrinology, Diabetes and Metabolism