- Pheochromocytoma Developed in a Boy with Multiple Endocrine Neoplasia Type 2A Confirmed by the RET Proto-Oncogene Mutation
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Park SY, Jin MJ, Choi EM, Kang SJ, Choi JH, Shim YJ, Kim HS, Jung EY, Lee HJ, Choi MS, Kim HW
- KMID: 2379354
- Clin Pediatr Hematol Oncol.
- 2017 Apr;24(1):75-79.
- doi: 10.15264/cpho.2017.24.1.75
A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's... -
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- A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
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Choi YS, Kwon HJ, Kim BK, Kwon SK, Park YH, Kim JH, Jung SB, Lee CH, Lee SK, Uchino S
- KMID: 2158016
- J Korean Med Sci.
- 2013 Jan;28(1):156-159.
- doi: 10.3346/jkms.2013.28.1.156
Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in... -
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- A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A
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Lee YJ, Chon S, Lee SH, Lee TW, Ihm CG, Noh TJ, Oh S, Woo JT, Kim SW, Kim JW, Kim YS
- KMID: 2169020
- Endocrinol Metab.
- 2010 Jun;25(2):135-141.
- doi: 10.3803/EnM.2010.25.2.135
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... -
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- A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism
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Kang MK, Lee JM, Kim JH, Lee MY, Kim JH, Moon SD, Han JH, Chang SA
- KMID: 1468551
- J Korean Endocr Soc.
- 2009 Dec;24(4):293-297.
- doi: 10.3803/jkes.2009.24.4.293
Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses... -
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- Medullary Thyroid Carcinoma: 25-year Experience and the Results of the RET Proto-oncogene Screening Test
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Jeong JJ, Lee YS, Kang SW, Sung TY, Lee SC, Nam KH, Chang HS, Chung WY, Park CS
- KMID: 2375753
- Korean J Endocr Surg.
- 2009 Mar;9(1):1-6.
- doi: 10.16956/kjes.2009.9.1.1
PURPOSE: Medullary thyroid carcinoma (MTC) is a rare thyroid tumor and its clinical course is quite variable. The aim of this study was to retrospectively analyze our clinical and laboratory... -
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- A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene
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Yun SW, Yoo WS, Hong KH, Kim BH, Kang MH, Choo YK, Park HY, Kim DH, Chung HK, Chang MC, Kwon MS, Kim HJ
- KMID: 1958911
- J Korean Endocr Soc.
- 2007 Dec;22(6):453-459.
- doi: 10.3803/jkes.2007.22.6.453
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... -
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- Analysis of RET Gene Point Mutation in a Family with Multiple Endocrine Neoplasia Type 2A
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Kim SW, Lee KD, Kim JY, Moon HS, Kim YR, Park YH, Lee KS
- KMID: 2276772
- Korean J Otolaryngol-Head Neck Surg.
- 2007 Jun;50(6):529-536.
BACKGROUND AND OBJECTIVES: Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompasses medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early... -
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- A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Prophylactic Total Thyroidectomy
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Kim BS, Rhie YJ, Koh H, Kim DH, Choi SH
- KMID: 1510419
- J Korean Soc Pediatr Endocrinol.
- 2006 Jun;11(1):104-109.
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal-dominant hereditary syndrome which includes medullary thyroid carcinoma (MTC), pheochoromocytoma, multiple ganglioneuromas, gastrointestinal disorders and marfanoid face. MTC is the... -
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- A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene
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Kim NH, Kim JH, Nam JH, Park JP, Park JE, Choi YS, Park YH
- KMID: 1833332
- Korean J Med.
- 2006 Apr;70(4):448-454.
Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as... -
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- A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene
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Kim YK, Kim JW, Ahn SM, Song KE, Jung SH, Kim DJ, Chung YS, Lee KW, Kim CH, Hong JH, Jeong SY, Kim HJ
- KMID: 2100468
- J Korean Soc Endocrinol.
- 2005 Aug;20(4):375-380.
- doi: 10.3803/jkes.2005.20.4.375
A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which... -
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- A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene
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Kim HY, Lee JY, Kim SB, Lee KW, Seo JA, Oh JH, Kim SG, Choi KM, Baik SH, Choi DS, Kim NH
- KMID: 2331186
- J Korean Soc Endocrinol.
- 2003 Oct;18(5):481-488.
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are... -
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- Analysis of Ret Proto-oncogene Mutation in Korean Patients with Medullary Thyroid Carcinomas
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Kim HH, Kim HJ, Chung YJ, Min YK, Lee MS, Lee MK, Kim KW, Ki CS, Kim JW, Chung JH
- KMID: 2200380
- J Korean Soc Endocrinol.
- 2003 Aug;18(4):360-370.
BACKGROUND: Medullary thyroid carcinomas (MTC) have been reported as hereditary in about 25 ~30% of cases. The identification of germline mutation in RET proto-oncogene is important in the diagnosis of... -
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- A Case of Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene
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Kim TY, Hwang JK, Moon MK, Park YJ, Park DJ, Kim SY, Lee HK, Yoon YK, Cho BY
- KMID: 2200144
- J Korean Soc Endocrinol.
- 2003 Feb;18(1):85-93.
A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The... -
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- Early Detection of Medullary Thyroid Cancer by Screening of the RET Proto-oncogene Germ Line Point Mutation in Family Members Affected with Hereditary Medullary Thyroid Cancer
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Kim SW, Kim TY, Park YJ, Kim WB, Shin CS, Park DJ, Park KS, Kim SY, Cho BY, Lee HK
- KMID: 2331156
- J Korean Soc Endocrinol.
- 2001 Feb;16(1):54-64.
BACKGROUND: Conventional biochemical screening for family members with hereditary medullary thyroid cancer (MTC) is associated with problems of sensitivity and, specificity and it frequently detects gene carriers only after disease... -
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