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Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea

 Kyong Yeun Jung  ;  Seok-Mo Kim  ;  Min Joo Kim  ;  Sun Wook Cho  ;  Bup-Woo Kim  ;  Yong Sang Lee  ;  Jong Ju Jeong  ;  Kee-Hyun Nam  ;  Woong Youn Chung  ;  Kyu Eun Lee  ;  Eun-Jae Chung  ;  Hyo Jeong Kim  ;  Do Joon Park  ;  Myung-Whun Sung  ;  Cheong Soo Park  ;  Bo Youn Cho  ;  Young Joo Park  ;  Hang-Seok Chang 
 SURGERY, Vol.164(2) : 312-318, 2018 
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BACKGROUND: Hereditary medullary thyroid carcinoma can present as a part of multiple endocrine neoplasia syndrome by rearranged during transfection gene mutation. We evaluated the prevalence of rearranged during transfection gene mutation in patients who have medullary thyroid carcinoma and the correlations of genotype with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism according to the revised American Thyroid Association risk level.

METHODS: A total of 331 patients were diagnosed with medullary thyroid carcinoma, 172 of whom were tested for the rearranged during transfection germline mutation by sequencing of exon 8, 10, 11, and 13-16. These patients were diagnosed during the years 1982-2012 at 2 Korean tertiary hospitals. Patients were analyzed according to the route of diagnosis (screened versus index cases) or the mutational site of rearranged during transfection gene (the American Thyroid Association risk group).

RESULTS: Rearranged during transfection mutation was found in 23.8% of patients tested, showing a decreasing trend with time. The most commonly mutated codon was codon 634 (37.1%), followed by codon 918 (14.3%). rearranged during transfection-positive patients were younger than rearranged during transfection-negative patients, although no other clinicopathologic characteristics differed. Screened cases were younger and had smaller tumors than index cases. Among rearranged during transfection-positive patients, pheochromocytoma manifested in 35.1% and hyperparathyroidism in 7.0%. Notably, pheochromocytoma and hyperparathyroidism emerged at any time after the diagnosis of medullary thyroid carcinoma. The American Thyroid Association risk-group analysis demonstrated that medullary thyroid carcinoma patients in the highest risk group were younger, had larger tumors, and higher disease-specific mortality. Similar results for pheochromocytoma were found, according to the American Thyroid Association risk group, although the results were not significant.

CONCLUSIONS: Korean patients who have medullary thyroid carcinoma showed a similar distribution of rearranged during transfection gene mutation with those in Western countries. The American Thyroid Association risk classification was shown to be useful for pheochromocytoma, as well as for medullary thyroid carcinoma. Familial screening for rearranged during transfection mutation and lifelong monitoring for associated pheochromocytoma should be emphasized in hereditary medullary thyroid carcinoma.
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1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Bup Woo(김법우) ORCID logo https://orcid.org/0000-0002-1342-9055
Kim, Seok Mo(김석모) ORCID logo https://orcid.org/0000-0001-8070-0573
Nam, Kee Hyun(남기현) ORCID logo https://orcid.org/0000-0002-6852-1190
Park, Cheong Soo(박정수)
Lee, Yong Sang(이용상) ORCID logo https://orcid.org/0000-0002-8234-8718
Chang, Hang Seok(장항석) ORCID logo https://orcid.org/0000-0002-5162-103X
Chung, Woong Youn(정웅윤)
Jeong, Jong Ju(정종주) ORCID logo https://orcid.org/0000-0002-4155-6035
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