Endocrinology and Metabolism

Seoung Wook Yun (Yun SW)

1 Article

A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene.: 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; DOI: https://doi.org/10.3803/jkes.2007.22.6.453

1,867 View
31 Download
2 Crossref

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.

Citations

Citations to this article as recorded by

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

Author index