Two Cases of Multiple Endocrine Neoplasia Type 2B, Early Diagnosis by Genetic Analysis and Prophylactic Total Thyroidectomy
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Multiple endocrine neoplasia (MEN) 2B is charaterized by tumors of endocrine glands, consisting of medullary thyroid carcinoma (MTC), pheochromocytoma and mucosal neuromas of the tongue, lips and other sites. Especially, MTC is the main cause of death in patients who have not received early prophylactic treatment, and MTC in MEN 2B represents more aggressive progress than that of MEN 2A. We encountered two cases of multiple endocrine neoplasia type 2B. One was a 13 month old boy who had familial history of MEN 2B without any symptoms, and the other was a 6-year old boy who manifested multiple mucosal neuromas of the tongue which had been aggravated in four months. Their genetic analysis revealed a point mutation 918th cordon in the RET proto-oncogene. Both of them underwent an operation for prophylactic total thyroidectomy and the 6 year old boy’s specimen turned out to be thyroid medullary carcinoma. We encountered two cases of MEN 2B with prophylactic thyroidectomy by early diagnosis of RET proto-oncogene, and report the cases with review of literature.
Abstract
Multiple endocrine neoplasia (MEN) 2B is charaterized by tumors of endocrine glands, consisting of medullary thyroid carcinoma (MTC), pheochromocytoma and mucosal neuromas of the tongue, lips and other sites. Especially, MTC is the main cause of death in patients who have not received early prophylactic treatment, and MTC in MEN 2B represents more aggressive progress than that of MEN 2A. We encountered two cases of multiple endocrine neoplasia type 2B. One was a 13 month old boy who had familial history of MEN 2B without any symptoms, and the other was a 6-year old boy who manifested multiple mucosal neuromas of the tongue which had been aggravated in four months. Their genetic analysis revealed a point mutation 918th cordon in the RET proto-oncogene. Both of them underwent an operation for prophylactic total thyroidectomy and the 6 year old boy’s specimen turned out to be thyroid medullary carcinoma. We encountered two cases of MEN 2B with prophylactic thyroidectomy by early diagnosis of RET proto-oncogene, and report the cases with review of literature.
참고문헌 (27)
- Kouvaraki MA, "RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors", Thyroid, 15, pp.531~544 (2005)
- Vasen HF, "The natural course of multiple endocrine neoplasia type IIb. A study of 18 cases", Arch Intern Med, 152, pp.1250~1252 (1992)
- Raue F, "Multiple endocrine neoplasia type 2. Clinical features and screening", Endocrinol Metab Clin North Am, 23, pp.137~156 (1994)
- You YN, "New directions in the treatment of thyroid cancer", J Am Coll Surg, 205(4 Suppl), pp.S45~48 (2007)
- Kloos RT, "Medullary thyroid cancer: management guidelines of the American Thyroid Association", Thyroid, 19, pp.565~612 (2009)
- Phay JE, "Multiple endocrine neoplasias", Semin Surg Oncol, 18, pp.324~332 (2000)
- Pacini F, "Routine measurement of serum calcitonin in nodular thyroid diseases allows the preoperative diagnosis of unsuspected sporadic medullary thyroid carcinoma", J Clin Endocrinol Metab, 78, pp.826~829 (1994)
- Bondeson L, "Occult thyroid carcinoma at autopsy in Malmö, Sweden", Cancer, 47, pp.319~323 (1981)
- Kebebew E, "Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems", Cancer, 88, pp.1139~1148 (2000)
- Skinner MA, "Management of hereditary thyroid cancer in children", Surg Oncol, 12, pp.101~104 (2003)
- Machens A, "Improved prediction of calcitonin normalization in medullary thyroid carcinoma patients by quantitative lymph node analysis", Cancer, 88, pp.1909~1915 (2000)
- Raue F, "Tumor markers in C-cell cancer", Dtsch Med Wochenschr, 108, pp.283~287 (1983)
- Niccoli-Sire P, "When should thyroidectomy be performed in familial medullary thyroid carcinoma gene carriers with non-cysteine RET mutations?", Surgery, 134, pp.1029~1036 (2003)
- Barbot N, "Pentagastrin stimulation test and early diagnosis of medullary thyroid carcinoma using an immunoradiometric assay of calcitonin: comparison with genetic screening in hereditary medullary thyroid carcinoma", J Clin Endocrinol Metab, 78, pp.114~120 (1994)
- Wells SA Jr, "The importance of early diagnosis in patients with hereditary medullary thyroid carcinoma", Ann Surg, 195, pp.595~599 (1982)
- Dralle H, "Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience", World J Surg, 22, pp.744~750 (1998)
- Donis-Keller H, "Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC", Hum Mol Genet, 2, pp.851~856 (1993)
- Brandi ML, "Guidelines for diagnosis and therapy of MEN type 1 and type 2", J Clin Endocrinol Metab, 86, pp.5658~5671 (2001)
- Machens A, "Advances in the management of hereditary medullary thyroid cancer", J Intern Med, 257, pp.50~59 (2005)
- Yip L, "Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship", Arch Surg, 138, pp.409~416 (2003)
- Skinner MA, "Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A", N Engl J Med, 353, pp.1105~1113 (2005)
- Yoon KH, "A case of multiple endocrine neoplasia type 3", J Korean Soc Endocrinol, 6, pp.282~286 (1991)
- Cheon EM, "A case of multiple endocrine neoplasia type 2B", Korean J Med, 49, pp.400~406 (1995)
- Lee CW, "A case of multiple endocrine neoplasia type 3 with multiple mucosal neuroma", Korean J Dermatol, 37, pp.505~509 (1999)
- 김태용, "RET 원종양유전자 돌연변이(M918T)를 동반한 제2B형 다발성 내분비선종 1예", 대한내분비학회지, 18(1), pp.85~93 (2003), 대한내분비학회
- Joo SH, "A case report of multiple endocrine neoplasia type 2B with delayed-onset bilateral pheochromocytoma", Chonnam Med J, 40, pp.153~157 (2004)
- Kim BS, "A case of multiple endocrine neoplasia type 2B early diagnosis by RET proto-oncogene analysis and prophylactic total thyroidectomy", J Korean Soc Pediatr Endocrinol, 11, pp.104~109 (2006)