한국인에서 다발성 내분비선종 증후군의 초기 증상 및 임상 양상
Early Symptoms and Clinical Manifestations in Korean Patients with Multiple Endocrine Neoplasia
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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 the nonspecific symptoms and signs. This study analyzed early manifestations and clinical characteristics in patients with MEN syndrome. Methods: Medical records were retrospectively reviewed and telephone interviews were conducted with 35 patients diagnosed as MEN syndrome at Samsung Medical Center from December 1994 to December 2009. Results: The 35 patients had been diagnosed as MEN1 (n=14), MEN2A (n=19) and MEN2B (n=2). The early manifestations of the 14 MEN1 patients were related with hyperparathyroidism (n=5), pituitary tumor (n=3), and pancreatic endocrine tumor (n=2). There were tumors of the parathyroid gland in all 14 patients, anterior pituitary in eight patients, and pancreatic islet cells in seven patients. Four cases were incidentally detected during the screening examination. Six cases harbored a MEN1 gene mutation. The twenty-one patients diagnosed with MEN2 comprised medullary thyroid cancer (n=20), adrenal pheochromocytoma (n=15), and hyperparathyroidism (n=4). The MTC-related symptoms in the 21 MEN2 patients included neck mass or discomfort in 12 patients and pheochromocytoma-related symptoms in seven patients. Two cases were detected through familial genetic screening test. The RET gene mutationwas detected in 19 cases. Conclusion: Early manifestations of MEN syndrome were very different between the types of MEN and the types of its presenting tumor. The early diagnosis and proper management of MEN requires awareness of the clinical characteristics of each expressed tumor and is influenced by genetic screening methods. (Korean J Endocrine Surg 2010; 10:266-275)
Abstract
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 the nonspecific symptoms and signs. This study analyzed early manifestations and clinical characteristics in patients with MEN syndrome. Methods: Medical records were retrospectively reviewed and telephone interviews were conducted with 35 patients diagnosed as MEN syndrome at Samsung Medical Center from December 1994 to December 2009. Results: The 35 patients had been diagnosed as MEN1 (n=14), MEN2A (n=19) and MEN2B (n=2). The early manifestations of the 14 MEN1 patients were related with hyperparathyroidism (n=5), pituitary tumor (n=3), and pancreatic endocrine tumor (n=2). There were tumors of the parathyroid gland in all 14 patients, anterior pituitary in eight patients, and pancreatic islet cells in seven patients. Four cases were incidentally detected during the screening examination. Six cases harbored a MEN1 gene mutation. The twenty-one patients diagnosed with MEN2 comprised medullary thyroid cancer (n=20), adrenal pheochromocytoma (n=15), and hyperparathyroidism (n=4). The MTC-related symptoms in the 21 MEN2 patients included neck mass or discomfort in 12 patients and pheochromocytoma-related symptoms in seven patients. Two cases were detected through familial genetic screening test. The RET gene mutationwas detected in 19 cases. Conclusion: Early manifestations of MEN syndrome were very different between the types of MEN and the types of its presenting tumor. The early diagnosis and proper management of MEN requires awareness of the clinical characteristics of each expressed tumor and is influenced by genetic screening methods. (Korean J Endocrine Surg 2010; 10:266-275)
참고문헌 (29)
- Brandi ML, "Guidelines for diagnosis and therapy of MEN type 1 and type 2", J Clin Endocrinol Metab, 86, pp.5658~5671 (2001)
- Park JH, "Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1- related disorders", Clin Genet, 64, pp.48~53 (2003)
- Frank-Raue K, "Multiple endocrine neoplasia type 2 (MEN 2)", Eur J Cancer, 45(Suppl 1), pp.267~273 (2009)
- Yun YS, "A case of multiple endocrine neoplasia type 2A", J Korean Soc Endocrinol, 12, pp.328~337 (1997)
- Wermer P, "Genetic aspects of adenomatosis of endocrine glands", Am J Med, 16, pp.363~371 (1954)
- Oh KY, "Multiple endocrine neoplasia type 1 in Koreans", J Korean Int Medicinol, 31, pp.229~235 (1986)
- Doherty GM, "Multiple endocrine neoplasia type 1", J Surg Oncol, 89, pp.143~150 (2005)
- Rizzoli R, "Primary hyperparathyroidism in familial multiple endocrine neoplasia type I. Long-term follow-up of serum calcium levels after parathyroidectomy", Am J Med, 78, pp.467~474 (1985)
- Eller-Vainicher C, "Sporadic and MEN1-related primary hyperparathyroidism: differences in clinical expression and severity", J Bone Miner Res, 24, pp.1404~1410 (2009)
- Tonelli F, "Is total parathyroidectomy the treatment of choice for hyperparathyroidism in multiple endocrine neoplasia type 1?", Ann Surg, 246, pp.1075~1082 (2007)
- Carling T, "Parathyroid surgery in familial hyperparathyroid disorders", J Intern Med, 257, pp.27~37 (2005)
- Tonelli F, "Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasias", Ann Surg, 244, pp.61~70 (2006)
- Thompson NW, "Current concepts in the surgical management of multiple endocrine neoplasia type 1 pancreatic-duodenal disease. Results in the treatment of 40 patients with Zollinger- Ellison syndrome, hypoglycaemia or Bilateral", J Intern Med, 243, pp.495~500 (1998)
- Larsson C, "Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma", Nature, 332, pp.85~87 (1988)
- Agarwal SK, "Molecular pathology of the MEN1 gene", Ann N Y Acad Sci, 1014, pp.189~198 (2004)
- 윤승욱, "RET 유전자의 C634R 돌연변이 및 G691S 단일염기다형성을 동반한 제2A형 다발성 내분비선종 가계", 대한내분비학회지, 22(6), pp.453~459 (2007), 대한내분비학회
- Raue F, "Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management", Hormones (Athens), 8, pp.23~28 (2009)
- Machens A, "Advances in the management of hereditary medullary thyroid cancer", J Intern Med, 257, pp.50~59 (2005)
- Skinner MA, "Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A", N Engl J Med, 353, pp.1105~1113 (2005)
- Raue F, "Multiple endocrine neoplasia type 2. Clinical features and screening", Endocrinol Metab Clin North Am, 23, pp.137~156 (1994)
- Gagel RF, "Clinical review 44: Medullary thyroid carcinoma: recent progress", J Clin Endocrinol Metab, 76, pp.809~814 (1993)
- Kloos RT, "Medullary thyroid cancer: management guidelines of the American Thyroid Association", Thyroid, 19, pp.565~612 (2009)
- Evans DB, "Adrenal medullary disease in multiple endocrine neoplasia type 2. Appropriate management", Endocrinol Metab Clin North Am, 23, pp.167~176 (1994)
- Lairmore TC, "Management of pheochromocytomas in patients with multiple endocrine neoplasia type 2 syndromes", Ann Surg, 217, pp.595~601 (1993)
- Herfarth KK, "Surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A", Surgery, 120, pp.966~973 (1996)
- Wells SA Jr, "Current perspectives on the diagnosis and management of patients with multiple endocrine neoplasia type 2 syndromes", Endocrinol Metab Clin North Am, 23, pp.215~228 (1994)
- Hofstra RM, "A mutation in the RET proto- oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma", Nature, 367, pp.375~376 (1994)
- Eng C, "The relationship between specific RET proto- oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis", JAMA, 276, pp.1575~1579 (1996)
- Gimm O, "Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation", J Clin Endocrinol Metab, 82, pp.3902~3904 (1997)