A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene

Yun, Seoung Wook; Yoo, Won Sang; Hong, Koo Hyun; Kim, Bae Hwan; Kang, Min Ho; Choo, Young Kwang; Park, Hee Yoon; Kim, Do Hee; Chung, Hyun Kyung; Chang, Myung Chul; Kwon, Mi Seon; Kim, Hee Jin

doi:10.3803/jkes.2007.22.6.453

Cited by 2 publications

(1 citation statement)

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“…A review of cases reported in Korea [14][15][16] showed that the mean age of patients with MEN 2A is 38 years, and variations in codon 618 are seen in 20% of exon 10 segments, while the remaining 80% are coding variations in exon 11. Of these variations, the frequency of C634R…”

Section: Introductionmentioning

confidence: 99%

A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A

et al. 2010

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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. (Endocrinol Metab 25:135-141, 2010)

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Section: Introductionmentioning

confidence: 99%