Yun Jung Lee, Suk Chon, Sang Ho Lee, Tae Won Lee, Chun Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim
Endocrinol Metab. 2010;25(2):135-141. Published online June 1, 2010
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2A. We describe here a rare case of MEN 2A in a patient who presented with an acute catecholamine-induced cardiomyopathy with cardiogenic shock and acute renal failure. The patient was diagnosed with pheochromocytoma and MTC associated with MEN 2A, which was confirmed by the detection of a RET proto-oncogene mutation at exon 11 on codon 634 (Cys634Arg). During familial screening, the patient's younger sister was found to have a benign thyroid nodule. Re-evaluation of this thyroid nodule revealed MTC with the same gene mutation. We also provide a review of the relevant literature.
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN 2A arises due to a germline missense mutation of the RET proto-oncogene. Specific RET mutation analysis has revolutionized the diagnosis and therapy of this disorder, and early thyroidectomy may have lowered the morbidity and mortality associated with these diseases. Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of ACTH outside of the pituitary gland; the most common causes are malignancies, but rarely adrenal pheochromocytoma may be the cause.
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Pheochromocytoma With High Adrenocorticotropic Hormone Production Capacity Without Pigmentation and Cushingoid Symptoms: A Case Report With a Literature Review Gen Mizutani, Masashi Isshiki, Eisuke Shimizu, Daigo Saito, Akira Shimada Cureus.2024;[Epub] CrossRef
Ectopic ACTH- and/or CRH-Producing Pheochromocytomas Patrick F Elliott, Thomas Berhane, Oskar Ragnarsson, Henrik Falhammar The Journal of Clinical Endocrinology & Metabolism.2021; 106(2): 598. CrossRef
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature Jenan N Gabi, Maali M Milhem, Yara E Tovar, Emhemmid S Karem, Alaa Y Gabi, Rodhan A Khthir Journal of the Endocrine Society.2018; 2(7): 621. CrossRef
Adrenocorticotropic hormone (ACTH)-producing pheochromocytoma presented as Cushing syndrome and complicated by invasive aspergillosis Jae Ho Cho, Da Eun Jeong, Jae Young Lee, Jong Geol Jang, Jun Sung Moon, Mi Jin Kim, Ji Sung Yoon, Kyu Chang Won, Hyoung Woo Lee Yeungnam University Journal of Medicine.2015; 32(2): 132. CrossRef
Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun Kyung Chung, Myung Chul Chang, Mi Seon Kwon, Hee Jin Kim
J Korean Endocr Soc. 2007;22(6):453-459. Published online December 1, 2007
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. MEN2A arises due to germline missense mutations of the RET proto-oncogene. Specific RET mutations correlate with the onset of age and the aggressiveness of a medullary thyroid carcinoma. However, the clinical presentation varies even within families, where patients carry the same mutation. Recently, it has been reported that polymorphisms of RET may have a modifier effect on the presentation. We experienced a case of 42-year-old man, whose bilateral pheochromocytoma and medullary thyroid carcinoma were incidentally found. Genetic testing detected a mutation in codon 634 (C634R) and a polymorphism in codon 691 (G691S) of the RET proto-oncogene. His mother, younger brother and his only son had the same mutation and polymorphism. We report this case with a review of the literature about RET gene polymorphisms.
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A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A Yun Jung Lee, Suk Chon, Sang-Ho Lee, Tae-Won Lee, Chun-Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong-Taek Woo, Sung-Woon Kim, Jin-Woo Kim, Young Seol Kim Endocrinology and Metabolism.2010; 25(2): 135. CrossRef
A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism Min-Kyu Kang, Jung-Min Lee, Ji-Hyun Kim, Min-Young Lee, Ji Hyun Kim, Sung Dae Moon, Je-Ho Han, Sang-Ah Chang Journal of Korean Endocrine Society.2009; 24(4): 293. CrossRef