다발내분비종양과 가족성 수질암
Multiple Endocrine Neoplasia and Familial Medullary Thyroid Carcinoma
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초록
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 as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance. Inherited medullary thyroid carcinoma (MTC) consists of MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). The identification of hereditary MTC has been facilitated in recent years by direct analysis of germline RET proto-oncogene mutation.
Abstract
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 as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance. Inherited medullary thyroid carcinoma (MTC) consists of MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). The identification of hereditary MTC has been facilitated in recent years by direct analysis of germline RET proto-oncogene mutation.
참고문헌 (25)
- Brandi ML, "Guidelines for diagnosis and therapy of MEN type 1 and type 2", J Clin Endocrinol Metab, 86(12), pp.5658~5671 (2001)
- Pelizzo MR, "Natural history, diagnosis, treatment and outcome of medullary thyroid cancer: 37 years experience on 157 patients", Eur J Surg Oncol, 33(4), pp.493~497 (2007)
- Larsson C, "Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma", Nature, 332(6159), pp.85~87 (1988)
- Chandrasekharappa SC, "Positional cloning of the gene for multiple endocrine neoplasia-type 1", Science, 276(5311), pp.404~407 (1997)
- Waldmann J, "Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value", World J Surg, 33(6), pp.1208~1218 (2009)
- 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(3), pp.467~474 (1985)
- Uchino S, "Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors", Cancer Res, 60(19), pp.5553~5557 (2000)
- Sato M, "A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma", Endocrine, 12(3), pp.223~226 (2000)
- Geerdink EA, "Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?", Eur J Endocrinol, 149(6), pp.577~582 (2003)
- Goudet P, "Risk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients", World J Surg, 34(2), pp.249~255 (2010)
- Sipple JH, "The association of pheochromocytoma with carcinoma of the thyroid gland", Am J Med, 31(1), pp.163~166 (1961)
- Steiner AL, "Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2", Medicine (Baltimore), 47(5), pp.371~409 (1968)
- Eng C., "Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease", N Engl J Med, 335(13), pp.943~951 (1996)
- Jaquet AJ, "Ein fall von metastasierenden amyloidtumoren(lymphosarkom)", Virchows Arch, 185, pp.251~267 (1906)
- Williams ED, "Histogenesis of medullary carcinoma of the thyroid", J Clin Pathol, 19(2), pp.114~118 (1966)
- Webb TA, "Differences between sporadic pheochromocytoma and pheochromocytoma in multiple endocrime neoplasia, type 2", Am J Surg Pathol, 4(2), pp.121~126 (1980)
- Kim SW, "Analysis of RET gene point mutation with multiple endocrine neoplasia type 2B", J Clinical Otolaryngol, 18(1), pp.79~85 (2007)
- Mathew CG, "A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10", Nature, 328(6130), pp.527~528 (1987)
- Eng C, "Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours", Hum Mol Genet, 3(2), pp.237~241 (1994)
- de Groot JW, "RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors", Endocr Rev, 27(5), pp.535~560 (2006)
- Waguespack SG, "Management of medullary thyroid carcinoma and MEN2 syndromes in childhood", Nat Rev Endocrinol, 7(10), pp.596~607 (2011)
- Bachelot A, "Inheritable forms of medullary thyroid carcinoma", Biochimie, 84(1), pp.61~66 (2002)
- American Thyroid Association Guidelines Task Force, "Medullary thyroid cancer: management guidelines of the American Thyroid Association", Thyroid, 19(6), pp.565~612 (2009)
- Eng C, "Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma", Clin Endocrinol (Oxf), 43(1), pp.123~127 (1995)
- Zedenius J, "Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s", Hum Mol Genet, 3(8), pp.1259~1262 (1994)
