Multiple endocrine neoplasia type 2 historical perspective: Difference between revisions
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! style="background: #DCDCDC;" |1961 | ! style="background: #DCDCDC;" |1961 | ||
! style="background: #F5F5F5;" |Dr. John H. Sipple | ! style="background: #F5F5F5;" |Dr. John H. Sipple | ||
! style="background: #F5F5F5;" |Described a combination of a [[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 | ! style="background: #F5F5F5;" |Described a combination of a [[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 [[pheochromocytoma]]s. | ||
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! style="background: #DCDCDC;" |1965 | ! style="background: #DCDCDC;" |1965 | ||
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! style="background: #DCDCDC;" |1966 | ! style="background: #DCDCDC;" |1966 | ||
! style="background: #F5F5F5;" |Williams | ! style="background: #F5F5F5;" |Williams | ||
! style="background: #F5F5F5;" |Reported a case of a patient with combination of | ! style="background: #F5F5F5;" |Reported a case of a patient with combination of mucosal neuromas, [[pheochromocytoma]] and [[medullary thyroid carcinoma]] | ||
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! style="background: #DCDCDC;" rowspan=2 |1968 | ! style="background: #DCDCDC;" rowspan=2 |1968 | ||
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! style="background: #F5F5F5;" |Meyer and Abdel-Bari | ! style="background: #F5F5F5;" |Meyer and Abdel-Bari | ||
! style="background: #F5F5F5;" |Suggested that | ! style="background: #F5F5F5;" |Suggested that medullary carcinoma produces thyro[[calcitonin]] from [[parafollicular cell]]s | ||
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! style="background: #DCDCDC;" |1970 | ! style="background: #DCDCDC;" |1970 | ||
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! style="background: #DCDCDC;" |1974 | ! style="background: #DCDCDC;" |1974 | ||
! style="background: #F5F5F5;" |Sizemore | ! style="background: #F5F5F5;" |Sizemore | ||
! style="background: #F5F5F5;" |Showed that the multiple endocrine neoplasia type 2 category included two groups of patients with [[medullary thryoid 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 neuroma]]s and mesodermal abnormalities ( | ! style="background: #F5F5F5;" |Showed that the multiple endocrine neoplasia type 2 category included two groups of patients with [[medullary thryoid 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 neuroma]]s and mesodermal abnormalities (multiple endocrine neoplasia type 2B) | ||
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! style="background: #DCDCDC;" rowspan=2 |1978 | ! style="background: #DCDCDC;" rowspan=2 |1978 | ||
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! style="background: #DCDCDC;" |1980 | ! style="background: #DCDCDC;" |1980 | ||
! style="background: #F5F5F5;" |Le Marec | ! style="background: #F5F5F5;" |Le Marec | ||
! style="background: #F5F5F5;" | | ! style="background: #F5F5F5;" |Congential megacolon in sipple syndrome<ref name="pmid7276917">{{cite journal| author=Le Marec B, Roussey M, Cornec A, Calmettes C, Kerisit J, Allanic H| title=[Thyroid cancer with amyloid stroma, Sipple's syndrome, congenital megacolon with plexus hyperplasia: one and the same dominant autosomal disease with complete penetrance]. | journal=J Genet Hum | year= 1981 | volume= 28 | issue= 5 | pages= 169-74 | pmid=7276917 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7276917 }} </ref> | ||
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! style="background: #DCDCDC;" |1989 | ! style="background: #DCDCDC;" |1989 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
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 combination of a pheochromocytoma, medullary thyroid carcinoma and parathyroid adenoma.
Historical Perspective
- Historical background of multiple endocrine neoplasia type 2 is given in the table below.
Years | Scientist | Contribution |
---|---|---|
1954 | Wermer | Reported that syndrome was transmitted as a dominant trait |
1959 | Hazard | Described medullary (solid) thyroid carcinoma |
1961 | Dr. John H. Sipple | Described a combination of a 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 [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 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 | Adrenal medulla produces a calcitonin like material[2] |
1974 | Sizemore | Showed that the multiple endocrine neoplasia type 2 category included two groups of patients with medullary thryoid 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[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 multiple endocrine neoplasia type 2 syndromes | |
1998 | MEN1 gene was cloned[5] | |
|
|
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