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 Young Cho, Young Joo Park, Hang-Seok Chang

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)312-318
Number of pages7
JournalSurgery (United States)
Volume164
Issue number2
DOIs
Publication statusPublished - 2018 Aug 1

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Korea
Pheochromocytoma
Transfection
Hyperparathyroidism
Mutation
Codon
Genes
Medullary Thyroid cancer
Multiple Endocrine Neoplasia
Germ-Line Mutation
Tertiary Care Centers
Exons
Neoplasms
Genotype
Mortality

All Science Journal Classification (ASJC) codes

  • Surgery

Cite this

Jung, Kyong Yeun ; Kim, Seok Mo ; Kim, Min Joo ; Cho, Sun Wook ; Kim, Bup Woo ; Lee, Yong Sang ; Jeong, Jong Ju ; Nam, Kee Hyun ; Chung, Woong Youn ; Lee, Kyu Eun ; Chung, Eun Jae ; Kim, Hyo Jeong ; Park, Do Joon ; Sung, Myung Whun ; Park, Cheong Soo ; Cho, Bo Young ; Park, Young Joo ; Chang, Hang-Seok. / Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea. In: Surgery (United States). 2018 ; Vol. 164, No. 2. pp. 312-318.
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abstract = "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.",
author = "Jung, {Kyong Yeun} and Kim, {Seok Mo} and Kim, {Min Joo} and Cho, {Sun Wook} and Kim, {Bup Woo} and Lee, {Yong Sang} and Jeong, {Jong Ju} and Nam, {Kee Hyun} and Chung, {Woong Youn} and Lee, {Kyu Eun} and Chung, {Eun Jae} and Kim, {Hyo Jeong} and Park, {Do Joon} and Sung, {Myung Whun} and Park, {Cheong Soo} and Cho, {Bo Young} and Park, {Young Joo} and Hang-Seok Chang",
year = "2018",
month = "8",
day = "1",
doi = "10.1016/j.surg.2018.03.018",
language = "English",
volume = "164",
pages = "312--318",
journal = "Surgery",
issn = "0039-6060",
publisher = "Mosby Inc.",
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Jung, KY, Kim, SM, Kim, MJ, Cho, SW, Kim, BW, Lee, YS, Jeong, JJ, Nam, KH, Chung, WY, Lee, KE, Chung, EJ, Kim, HJ, Park, DJ, Sung, MW, Park, CS, Cho, BY, Park, YJ & Chang, H-S 2018, 'Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea', Surgery (United States), vol. 164, no. 2, pp. 312-318. https://doi.org/10.1016/j.surg.2018.03.018

Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea. / Jung, Kyong Yeun; Kim, Seok Mo; Kim, Min Joo; Cho, Sun Wook; Kim, Bup Woo; Lee, Yong Sang; Jeong, Jong Ju; Nam, Kee Hyun; Chung, Woong Youn; Lee, Kyu Eun; Chung, Eun Jae; Kim, Hyo Jeong; Park, Do Joon; Sung, Myung Whun; Park, Cheong Soo; Cho, Bo Young; Park, Young Joo; Chang, Hang-Seok.

In: Surgery (United States), Vol. 164, No. 2, 01.08.2018, p. 312-318.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea

AU - Jung, Kyong Yeun

AU - Kim, Seok Mo

AU - Kim, Min Joo

AU - Cho, Sun Wook

AU - Kim, Bup Woo

AU - Lee, Yong Sang

AU - Jeong, Jong Ju

AU - Nam, Kee Hyun

AU - Chung, Woong Youn

AU - Lee, Kyu Eun

AU - Chung, Eun Jae

AU - Kim, Hyo Jeong

AU - Park, Do Joon

AU - Sung, Myung Whun

AU - Park, Cheong Soo

AU - Cho, Bo Young

AU - Park, Young Joo

AU - Chang, Hang-Seok

PY - 2018/8/1

Y1 - 2018/8/1

N2 - 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.

AB - 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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