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 tumor, thyroid tumor and bilateral adrenal | ! 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. | ||
|- | |- | ||
! style="background: #DCDCDC;" |1965 | ! style="background: #DCDCDC;" |1965 | ||
! style="background: #F5F5F5;" |Schimke and Hartmann | ! style="background: #F5F5F5;" |Schimke and Hartmann | ||
! style="background: #F5F5F5;" |Described a syndrome of medullary thyroid carcinoma with abundant amyloid stroma and pheochromocytoma <ref name="pmid5844561">{{cite journal| author=Schimke RN, Hartmann WH| title=Familial amyloid-producing medullary thyroid carcinoma and pheochromocytoma. A distinct genetic entity. | journal=Ann Intern Med | year= 1965 | volume= 63 | issue= 6 | pages= 1027-39 | pmid=5844561 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5844561 }} </ref> | ! style="background: #F5F5F5;" |Described a syndrome of [[medullary thyroid carcinoma]] with abundant [[amyloid]] stroma and [[pheochromocytoma]] <ref name="pmid5844561">{{cite journal| author=Schimke RN, Hartmann WH| title=Familial amyloid-producing medullary thyroid carcinoma and pheochromocytoma. A distinct genetic entity. | journal=Ann Intern Med | year= 1965 | volume= 63 | issue= 6 | pages= 1027-39 | pmid=5844561 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5844561 }} </ref> | ||
|- | |- | ||
! 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 mucosal | ! style="background: #F5F5F5;" |Reported a case of a patient with combination of [[mucosal neuroma]]s, [[pheochromocytoma]] and [[medullary thyroid carcinoma]] | ||
|- | |- | ||
! style="background: #DCDCDC;" rowspan=2 |1968 | ! style="background: #DCDCDC;" rowspan=2 |1968 | ||
! style="background: #F5F5F5;" |Steiner | ! style="background: #F5F5F5;" |Steiner | ||
! style="background: #F5F5F5;" |Introduced the term "multiple endocrine neoplasia" (MEN) to describe disorders featuring combinations of [[endocrine]] [[tumor]]s and proposed the terms '[[Wermer syndrome]]' for MEN 1 and '[[Sipple syndrome]]' for | ! style="background: #F5F5F5;" |Introduced the term "multiple endocrine neoplasia" (MEN) to describe disorders featuring combinations of [[endocrine]] [[tumor]]s and proposed the terms '[[Wermer syndrome]]' for MEN 1 and '[[Sipple syndrome]]' for multiple endocrine neoplasia type 2 | ||
|- | |- | ||
! style="background: #F5F5F5;" |Meyer and Abdel-Bari | ! style="background: #F5F5F5;" |Meyer and Abdel-Bari | ||
! style="background: #F5F5F5;" |Suggested that medullary carcinoma produces thyrocalcitonin from parafollicular | ! style="background: #F5F5F5;" |Suggested that [[medullary carcinoma]] produces [[thyrocalcitonin]] from [[parafollicular cell]]s | ||
|- | |- | ||
! style="background: #DCDCDC;" |1970 | ! style="background: #DCDCDC;" |1970 | ||
! style="background: #F5F5F5;" |Kaplan | ! style="background: #F5F5F5;" |Kaplan | ||
! style="background: #F5F5F5;" |Adrenal medulla produces a calcitonin like material<ref name="pmid10483461">{{cite journal| author=Kaplan EL, Arnaud CD, Hill BJ, Peskin GW| title=Adrenal medullary calcitonin-like factor: a key to multiple endocrine neoplasia, type 2? | journal=Surgery | year= 1970 | volume= 68 | issue= 1 | pages= 146-9 | pmid=10483461 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10483461 }} </ref> | ! style="background: #F5F5F5;" |[[Adrenal medulla]] produces a [[calcitonin]] like material<ref name="pmid10483461">{{cite journal| author=Kaplan EL, Arnaud CD, Hill BJ, Peskin GW| title=Adrenal medullary calcitonin-like factor: a key to multiple endocrine neoplasia, type 2? | journal=Surgery | year= 1970 | volume= 68 | issue= 1 | pages= 146-9 | pmid=10483461 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10483461 }} </ref> | ||
|- | |- | ||
! style="background: #DCDCDC;" |1974 | ! style="background: #DCDCDC;" |1974 | ||
! style="background: #F5F5F5;" |Sizemore | ! style="background: #F5F5F5;" |Sizemore | ||
! style="background: #F5F5F5;" |Showed that the | ! style="background: #F5F5F5;" |Showed that the multiple endocrine neoplasia type 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 ([[multiple endocrine neoplasia type 2B]]) | ||
|- | |- | ||
! style="background: #DCDCDC;" rowspan=2 |1978 | ! style="background: #DCDCDC;" rowspan=2 |1978 | ||
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! style="background: #F5F5F5;" |Cameron | ! style="background: #F5F5F5;" |Cameron | ||
! style="background: #F5F5F5;" |Suggested that medullary carcinoma produces | ! style="background: #F5F5F5;" |Suggested that medullary carcinoma produces thyro[[calcitonin]] from [[parafollicular cell]]s<ref name="pmid26873">{{cite journal| author=Cameron D, Spiro HM, Landsberg L| title=Zollinger-Ellison syndrome with multiple endocrine adenomatosis type II. | journal=N Engl J Med | year= 1978 | volume= 299 | issue= 3 | pages= 152-3 | pmid=26873 | doi=10.1056/NEJM197807202990315 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26873 }} </ref> | ||
|- | |- | ||
! style="background: #DCDCDC;" |1980 | ! style="background: #DCDCDC;" |1980 | ||
! style="background: #F5F5F5;" |Le Marec | ! style="background: #F5F5F5;" |Le Marec | ||
! 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> | ! 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> | ||
|- | |- | ||
! style="background: #DCDCDC;" |1989 | ! style="background: #DCDCDC;" |1989 | ||
! style="background: #F5F5F5;" |Sobol | ! style="background: #F5F5F5;" |Sobol | ||
! style="background: #F5F5F5;" |Proposed that restriction fragment length polymerase is useful in predicting the carrier state of multiple endocrine neoplasia syndrome | ! style="background: #F5F5F5;" |Proposed that [[restriction fragment length polymerase]] is useful in predicting the carrier state of multiple endocrine neoplasia syndrome | ||
|- | |- | ||
! style="background: #DCDCDC;" |1993 | ! style="background: #DCDCDC;" |1993 | ||
! style="background: #F5F5F5;" | | ! style="background: #F5F5F5;" | | ||
! style="background: #F5F5F5;" |RET germline mutations were recognized as the causative molecular alterations in | ! style="background: #F5F5F5;" |[[RET]] germline mutations were recognized as the causative molecular alterations in multiple endocrine neoplasia type 2 syndromes | ||
|- | |- | ||
! style="background: #DCDCDC;" |1998 | ! style="background: #DCDCDC;" |1998 | ||
! style="background: #F5F5F5;" | | ! style="background: #F5F5F5;" | | ||
! style="background: #F5F5F5;" |MEN1 gene was cloned<ref name="Guru1998">Guru SC, Manickam P, Crabtree JS, Olufemi SE, Agarwal SK, Debelenko LV. Identification and characterization of the | ! style="background: #F5F5F5;" |''MEN1'' gene was cloned<ref name="Guru1998">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</ref> | ||
|- | |- | ||
! style="background: #DCDCDC;" |2001 | ! style="background: #DCDCDC;" |2001 | ||
! style="background: #F5F5F5;" |Koch | ! style="background: #F5F5F5;" |Koch | ||
! style="background: #F5F5F5;" |Introduced the 2 hit mechanism for | ! style="background: #F5F5F5;" |Introduced the 2 hit mechanism for multiple endocrine neoplasia type 2 associated [[tumor]]s and also described the mechanism of involved in [[trisomy]] 10 | ||
|} | |} | ||
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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 MEN 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 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 (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] | |
2001 | 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