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Multiple Endocrine Neoplasia Type 2B Diagnosed Early by Conjunctival Neuroma: a Case Report

Kim DH, Jang YS, Kang SR, Lim DM

Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant disorder characterized by medullary thyroid cancer, pheochromocytoma, neuroma and Marfanoid feature. Medullary thyroid cancer occurs in more than 95%...
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Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma

Choi YS

Multiple endocrine neoplasia (MEN) is defined as a disorder with neoplasms in two or more different hormonal tissues in several members of a family. MEN1, or Wermer's syndrome, is inherited...
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A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Prophylactic Total Thyroidectomy

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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Multiple Endocrine Neoplasia Type 2B: Early Diagnosis Based on Conjunctival Neuroma

Han KJ, Ha MS

PURPOSE: To report a case of multiple endocrine neoplasia type 2B (MEN 2B) diagnosed early based on conjunctival neuroma. CASE SUMMARY: A 15-year-old female presented with red eye and conjunctival mass...
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Polypoid Ganglioneuromatosis of Colon: A case report

Park JJ, Choi KC, Choi YH, Park YE

  • KMID: 1725395
  • Korean J Pathol.
  • 1998 May;32(5):388-390.
Gastrointestinal ganglioneuromatosis is an extremely rare lesion which typically occurs with a significant systemic syndrome. It is known to be a major component of multiple endocrine neoplasia, type 2b. We...
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Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis

Lee MJ, Chung KH, Park JS, Chung H, Jang HC, Kim JW

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare disease caused by germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. It is characterized...
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A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene

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 Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene

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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A Case Report of Multiple Endocrine Neoplasia Type 2B with Delayed-onset Bilateral Pheochromocytoma

Joo SH, Kim BH, Lee DW, Son SM, Kim IJ, Kim YK

  • KMID: 2134435
  • Chonnam Med J.
  • 2004 Sep;40(3):153-157.
The association of medullary thyroid cancer and pheochromocytoma with mutiple mucosal neuroma is termed MEN2B. We report a case of a 37-years-old man with MEN2B accompanied with delayed-onset bilateral pheochromocytoma....
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The Characteristics of Multiple Endocrine Neoplasia in Korean

Yang JH, Woo SU

PURPOSE: Multiple Endocrine Neoplasm (MEN) is a rare, complex and familial disease. There are MEN syndromes are inherited in an autosomal dominant fashion with high penetrance. The variations in the...
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A Case of Isolated Ileal Ganglioneuroma

Song JH, Ye BD, Yoon YS, Kim MJ, Yang DH, Jung KW, Kim KJ, Byeon JS, Myung SJ, Yang SK, Kim JH

Ganglioneuromas of the gastrointestinal tract are rare, but have an established association with genetic disorders, such as the multiple endocrine neoplasia (MEN) syndrome (type 2b) and neurofibromatosis (type 1). However,...
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Early Symptoms and Clinical Manifestations in Korean Patients with Multiple Endocrine Neoplasia

Kim KH, Koo MY, Hur SM, Lee SK, Choe JH, Lee JE, Kim JS, Chung JH, Nam SJ, Yang JH, Kim JH

PURPOSE: Multiple endocrine neoplasia (MEN) syndrome is an inherited, autosomal dominant disease that presents as a combination of several endocrine tumors. Early diagnosis of this syndrome is difficult, because of...
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A Case of Concurrent Papillary Thyroid Carcinoma in Familial Medullary Thyroid Microcarcinoma with a Germline C634W Mutation

Kim JH, Park JH, Park TS, Baek HS, Chung MJ, Hong KH

The origins of medullary carcinoma (MTC) and papillary carcinoma (PTC) of the thyroid are embryologically different. Tumors showing concurrent medullary and papillary features are rare and they represent less than...
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Bone and Calcified Soft Tissue Metastases of Medullary Thyroid Carcinoma Better Characterized on ¹⁸F-Fluoride PET/CT than on ⁶⁸Ga-Dotatate PET/CT

Duarte PS, de Castroneves LA, Sado HN, Sapienza M, de Oliveira Hoff AAF, Buchpiguel CA

Herein, we report a case of a 19-year-old man with multiple endocrine neoplasia type 2B (MEN2B) and medullary thyroid carcinoma (MTC) diagnosed when he was 12 years of age. The...
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Prognostic Factors Influencing Recurrence in Medullary Thyroid Cancer

Lee JH, Lee KE, Park KS, Ku DH, Oh SK, Youn YK

PURPOSE: Medullary thyroid carcinoma (MTC) is an uncommon thyroid tumor and the clinical course is variable. Many prognostic factors for MTC have been studied, but the significance of some of...
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Pheochromocytoma Clinically unsuspected pheochromocytoma

Park HL, Nam SJ, Kim SJ, Cho JW, Chun HK, Yang JH

  • KMID: 2004824
  • J Korean Surg Soc.
  • 2000 May;58(5):635-644.
PURPOSE: Pheochromocytoma is a catecholamine-secreting tumor that arises from the chromaffin cells of the sympathoadrenal system and presents with the typical symptoms of palpitation, diaphoresis, head ache, and hypertension. Some pheochromocytoma...
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Analysis of Ret Proto-oncogene Mutation in Korean Patients with Medullary Thyroid Carcinomas

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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Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Carcinoma

Lee KD, Mun HS, Kim JY, Chung H, Choi SH, Ha NW, Uchino S

  • KMID: 2276221
  • Korean J Otolaryngol-Head Neck Surg.
  • 2004 Sep;47(9):904-910.
BACKGROUND AND OBJECTIVES: Hereditary medullary thyroid carcinoma is presented as a part of MEN2A (65-75%) or MEN2B, but can also be inherited alone, which is called familial medullary thyroid carcinoma....
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