Multiple endocrine neoplasia type 2 historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [2] , Ammu Susheela, M.D. [3]
Overview
Multiple endocrine neoplasia type 2 was first described by Dr. John H. Sipple, an American physician, in 1961 by reporting a case of a patient with pheochromocytoma, medullary thyroid carcinoma, and parathyroid adenoma.
Historical Perspective
The historical background of multiple endocrine neoplasia type 2 is given in the table below:[1][2][3][4][5]
| 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 case of a patient with pheochromocytoma, medullary thyroid carcinoma, and parathyroid adenoma. It was based on a case he saw when he was in 3rd year medical residency about a person with intracranial bleed and fluctuating blood pressure. His autopsy showed parathyroid tumor, thyroid tumor, and bilateral adrenal pheochromocytomas. |
| 1965 | Schimke and Hartmann | Described a syndrome of medullary thyroid carcinoma with abundant amyloid stroma and pheochromocytoma |
| 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 multiple endocrine neoplasia type 1 and 'Sipple syndrome' for multiple endocrine neoplasia type 2 |
| Meyer and Abdel-Bari | Suggested that medullary carcinoma produces thyrocalcitonin from parafollicular cells | |
| 1970 | Kaplan | Suggested that adrenal medulla produces a calcitonin like material |
| 1974 | Sizemore | Showed that the multiple endocrine neoplasia type 2 category included two groups of patients with medullary thyroid cancer and pheochromocytoma: one with parathyroid disease and a normal appearance (multiple endocrine neoplasia type 2A) and the other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities (multiple endocrine neoplasia type 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 | |
| 1980 | Le Marec | Described a case of congential megacolon in Sipple syndrome |
| 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 multiple endocrine neoplasia type 2 syndromes | |
| 1998 | MEN1 gene was cloned | |
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2000-2001 |
Huang,Koch |
Introduced the 2 hit mechanism for multiple endocrine neoplasia type 2 associated tumors and also described the mechanism of involved in trisomy 10 |
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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