Multiple endocrine neoplasia type 2 historical perspective: Difference between revisions
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{{Multiple endocrine neoplasia type 2}} | {{Multiple endocrine neoplasia type 2}} | ||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{S.G.}} , {{Ammu}} | ||
==Overview== | ==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 | 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== | ==Historical Perspective== | ||
The historical background of multiple endocrine neoplasia type 2 is given in the table below:<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><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><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><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><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> | |||
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{| style="border: 0px; font-size: 90%; margin: 3px;" align=center | {| style="border: 0px; font-size: 90%; margin: 3px;" align="center" | ||
|+'''''MEN II Historical Background''''' | |+'''''MEN II Historical Background''''' | ||
! style="background: #4479BA; width: 120px;" | {{fontcolor|#FFF|Years}} | ! style="background: #4479BA; width: 120px;" | {{fontcolor|#FFF|Years}} | ||
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! style="background: #DCDCDC;" |1954 | ! style="background: #DCDCDC;" |1954 | ||
! style="background: #F5F5F5;" |Wermer | ! style="background: #F5F5F5;" |Wermer | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Reported that [[syndrome]] was transmitted as a [[dominant]] trait | |||
|- | |- | ||
! style="background: #DCDCDC;" |1959 | ! style="background: #DCDCDC;" |1959 | ||
! style="background: #F5F5F5;" |Hazard | ! style="background: #F5F5F5;" |Hazard | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Described [[Medullary thyroid carcinoma|medullary (solid) thyroid carcinoma]] | |||
|- | |- | ||
! style="background: #DCDCDC;" |1961 | ! style="background: #DCDCDC;" |1961 | ||
! style="background: #F5F5F5;" | | ! style="background: #F5F5F5;" |Sipple | ||
| style="padding: 5px 5px; background: #F5F5F5;" |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]] [[pheochromocytoma]]s. | |||
|- | |- | ||
! style="background: #DCDCDC;" |1965 | ! style="background: #DCDCDC;" |1965 | ||
! style="background: #F5F5F5;" |Schimke and Hartmann | ! style="background: #F5F5F5;" |Schimke and Hartmann | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Described a syndrome of [[medullary thyroid carcinoma]] with abundant [[amyloid]] [[stroma]] and [[pheochromocytoma]] | |||
|- | |- | ||
! style="background: #DCDCDC;" |1966 | ! style="background: #DCDCDC;" |1966 | ||
! style="background: #F5F5F5;" |Williams | ! style="background: #F5F5F5;" |Williams | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Reported a case of a [[patient]] with combination of [[mucosal]] [[Neuroma|neuromas]], [[pheochromocytoma]], and [[medullary thyroid carcinoma]] | |||
|- | |- | ||
! style="background: #DCDCDC;" | ! rowspan="2" style="background: #DCDCDC;" |1968 | ||
! style="background: #F5F5F5;" |Steiner | ! style="background: #F5F5F5;" |Steiner | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Introduced the term "[[multiple endocrine neoplasia]]" ([[Multiple endocrine neoplasia|MEN]]) to describe disorders featuring combinations of [[endocrine]] [[tumor]]s and proposed the terms '[[Wermer syndrome]]' for [[multiple endocrine neoplasia type 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="padding: 5px 5px; background: #F5F5F5;" |Suggested that [[medullary carcinoma]] produces [[Calcitonon|thyrocalcitonin]] from [[parafollicular cell]]s | |||
|- | |- | ||
! style="background: #DCDCDC;" |1970 | ! style="background: #DCDCDC;" |1970 | ||
! style="background: #F5F5F5;" |Kaplan | ! style="background: #F5F5F5;" |Kaplan | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Suggested that [[adrenal medulla]] produces a [[calcitonin]] like material | |||
|- | |- | ||
! style="background: #DCDCDC;" |1974 | ! style="background: #DCDCDC;" |1974 | ||
! style="background: #F5F5F5;" |Sizemore | ! style="background: #F5F5F5;" |Sizemore | ||
| style="padding: 5px 5px; background: #F5F5F5;" |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 [[Neuroma|neuromas]] and mesodermal abnormalities (multiple endocrine neoplasia type 2B) | |||
|- | |- | ||
! style="background: #DCDCDC;" | ! rowspan="2" style="background: #DCDCDC;" |1978 | ||
! style="background: #F5F5F5;" |Hamilton | ! style="background: #F5F5F5;" |Hamilton | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Reported a case of [[Zollinger-Ellison syndrome]] in multiple endocrine hyperplasia type 2 | |||
|- | |- | ||
! style="background: #F5F5F5;" |Cameron | ! style="background: #F5F5F5;" |Cameron | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Suggested that [[Medullary carcinoma of the thyroid|medullary carcinoma]] produces [[Calcitonin|thyrocalcitonin]] from [[parafollicular cell]]s | |||
|- | |- | ||
! style="background: #DCDCDC;" |1980 | ! style="background: #DCDCDC;" |1980 | ||
! style="background: #F5F5F5;" |Le Marec | ! style="background: #F5F5F5;" |Le Marec | ||
| style="padding: 5px 5px; background: #F5F5F5;" |Described a case of congential [[megacolon]] in [[Sipple syndrome]] | |||
|- | |- | ||
! style="background: #DCDCDC;" |1989 | ! style="background: #DCDCDC;" |1989 | ||
! style="background: #F5F5F5;" |Sobol | ! style="background: #F5F5F5;" |Sobol | ||
| style="padding: 5px 5px; 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="padding: 5px 5px; background: #F5F5F5;" |[[RET gene|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="padding: 5px 5px; background: #F5F5F5;" |[[MEN1|''MEN1'' gene]] was cloned | |||
|- | |- | ||
! style="background: #DCDCDC;" |2001 | ! style="background: #DCDCDC;" | | ||
! style="background: #F5F5F5;" |Koch | 2000-2001 | ||
! style="background: #F5F5F5;" | | |||
Huang,Koch | |||
| style="padding: 5px 5px; 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 | |||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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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 | |
|
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