Multiple endocrine neoplasia type 2 historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

  • Historical background of multiple endocrine neoplasia type 2 is given in the table below.


MEN II Historical Background
Years Scientist Contribution
1954 Wermer Reported that syndrome was transmitted as a dominant trait
1959 Hazard Described medullary (solid) thyroid carcinoma
1961 Sipple Described a combination of a pheochromocytoma, medullary thyroid carcinoma and parathyroid adenoma
1965 Schimke and Hartmann Described a syndrome of medullary thyroid carcinoma with abundant amyloid stroma and pheochromocytoma [1]
1966 Williams Reported a case of a patient with combination of mucosal neuromas, pheochromocytoma and medullary thyroid carcinoma
1968 Steiner Introduced the term "multiple endocrine neoplasia" (MEN) to describe disorders featuring combinations of endocrine tumors and proposed the terms 'Wermer syndrome' for MEN 1 and 'Sipple syndrome' for MEN 2
Meyer and Abdel-Bari Suggested that medullary carcinoma produces thyrocalcitonin from parafollicular cells
1970 Kaplan Adrenal medulla produces a calcitonin like material[2]
1974 Sizemore Showed that the MEN 2 category included two groups of patients with MTC and pheochromocytoma: one with parathyroid disease and a normal appearance (MEN 2A) and the other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities (MEN 2B)
1978 Hamilton Reported a case of Zollinger Ellison syndrome in multiple endocrine hyperplasia type 2
Cameron Suggested that medullary carcinoma produces thyrocalcitonin from parafollicular cells[3]
1980 Le Marec Congential megacolon in sipple syndrome[4]
1989 Sobol Proposed that restriction fragment length polymerase is useful in predicting the carrier state of multiple endocrine neoplasia syndrome
1993 RET germline mutations were recognized as the causative molecular alterations in MEN 2 syndromes
1998 MEN1 gene was cloned[5]
2001 Koch Introduced the 2 hit mechanism for MEN 2 associated tumors and also described the mechanism of involved in trisomy 10

References

  1. Schimke RN, Hartmann WH (1965). "Familial amyloid-producing medullary thyroid carcinoma and pheochromocytoma. A distinct genetic entity". Ann Intern Med. 63 (6): 1027–39. PMID 5844561.
  2. Kaplan EL, Arnaud CD, Hill BJ, Peskin GW (1970). "Adrenal medullary calcitonin-like factor: a key to multiple endocrine neoplasia, type 2?". Surgery. 68 (1): 146–9. PMID 10483461.
  3. Cameron D, Spiro HM, Landsberg L (1978). "Zollinger-Ellison syndrome with multiple endocrine adenomatosis type II". N Engl J Med. 299 (3): 152–3. doi:10.1056/NEJM197807202990315. PMID 26873.
  4. Le Marec B, Roussey M, Cornec A, Calmettes C, Kerisit J, Allanic H (1981). "[Thyroid cancer with amyloid stroma, Sipple's syndrome, congenital megacolon with plexus hyperplasia: one and the same dominant autosomal disease with complete penetrance]". J Genet Hum. 28 (5): 169–74. PMID 7276917.
  5. Guru SC, Manickam P, Crabtree JS, Olufemi SE, Agarwal SK, Debelenko LV. Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene. J Intern Med 243(6) 433-9

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