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| {{Search infobox}} | | {{Multiple endocrine neoplasia}} |
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| {{Editor Join}}
| | ==[[Multiple endocrine neoplasia overview|Overview]]== |
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| ==Overview== | | ==[[Multiple endocrine neoplasia classification|Classification]]== |
| '''Multiple endocrine [[neoplasia]]''' ('''MEN''') (or "multiple endocrine [[adenomas]]", or "multiple endocrine adenomatosis" -- "MEA") consists of three [[syndrome]]s featuring tumors of [[endocrine gland]]s, each with its own characteristic pattern. The presence of any one tumor type does not automatically have a patient labelled as MEN, but a search of the other at-risk areas is usually undertaken, especially when there are suggestive clinical signs.
| | [[Multiple endocrine neoplasia classification#MEN type 1|MEN Type 1]] | [[Multiple endocrine neoplasia classification#MEN type 2/type 2a|MEN Type 2a]] | [[Multiple endocrine neoplasia classification#MEN type 3/type 2b|MEN Type 2b]] |
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| MEN syndromes are inherited as [[autosomal dominant]] disorders. Medullary carcinoma of the thyroid may occur as an autosomal dominant in the absence of other features.
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| ==Comparison== | | ==[[Multiple endocrine neoplasia historical perspective|Historical Perspective]]== |
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| {| class="wikitable"
| | ==[[Multiple endocrine neoplasia pathophysiology|Pathophysiology]]== |
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| ! rowspan="2" | Feature
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| ! rowspan="2" | [[Multiple endocrine neoplasia type 1|MEN 1]]
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| ! colspan="3" | [[Multiple endocrine neoplasia type 2|MEN 2]]
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| |-
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| ! [[Multiple endocrine neoplasia type 2|MEN 2A]]
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| ! [[Multiple endocrine neoplasia type 2|MEN 2B]]
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| ! FMTC
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| | [[Eponym]]
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| | Wermer syndrome
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| | Sipple syndrome
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| | (see below)
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| | (none)
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| |-
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| | [[OMIM]]
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| | {{OMIM4|131100}}
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| | {{OMIM4|171400}}
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| | {{OMIM4|162300}}
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| | {{OMIM4|155240}}
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| |-
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| | [[Pancreatic]] tumors
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| | [[insulinoma]], [[gastrinoma]]
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| | -
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| | -
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| | -
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| |-
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| | [[Pituitary adenoma]]
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| | Yes
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| | -
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| | -
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| | -
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| |-
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| | [[Parathyroid]] hyperplasia
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| | Yes
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| | Yes
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| | -
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| | -
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| |-
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| | [[thyroid cancer#medullary thyroid cancer (MTC)|Medullary thyroid carcinoma]]
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| | -
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| | Yes
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| | 100%
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| | 100%
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| |-
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| | [[Pheochromocytoma]]
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| | -
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| | Yes
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| | 50%
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| | -
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| |-
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| | [[Marfan syndrome|Marfanoid]] body habitus
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| | -
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| | -
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| | 80%
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| | -
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| |-
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| | Multiple Mucosal Neuromata
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| | -
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| | -
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| | >95%
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| | -
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| |-
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| | Spontaneous mutation rate
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| | 50%
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| |-
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| | [[Gene]](s)
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| | [[MEN1|MEN1]] ({{OMIM4|131100}})
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| | [[RET proto-oncogene|RET]] ({{OMIM4|164761}})
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| | [[RET proto-oncogene|RET]] ({{OMIM4|164761}})
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| | [[RET proto-oncogene|RET]] ({{OMIM4|164761}}),<br/>NTRK1 ({{OMIM4|191315}})
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| |-
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| | Approx. [[prevalence]]
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| | 1 in 1,000,000
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| |-
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| | Initial description (year)
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| | 1954<ref>{{cite journal |author=Wermer P |title=Genetic aspects of adenomatosis of endocrine glands |journal=Am. J. Med. |volume=16 |issue=3 |pages=363–71 |year=1954 |pmid=13138607 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/0002-9343(54)90353-8}}</ref>
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| | 1961<ref>{{cite journal |author=Sipple JH |title=The association of pheochromocytoma with carcinoma of the thyroid gland |journal=Am. J. Med. |volume=31 |issue= |pages=163-6 |year=1961 |pmid= |doi= |url=}}</ref>
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| | 1965
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| |}
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| (Blanks indicate that data are not yet available.)
| | ==[[Multiple endocrine neoplasia epidemiology and demographics|Epidemiology & Demographics]]== |
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| MEN 2B was known as MEN 3 for a short time in the 1970s, but that term is no longer used.
| | ==[[Multiple endocrine neoplasia epidemiology and demographics|Risk Factors]]== |
| Although a variety of eponyms have been proposed for MEN2B (e.g. Williams-Pollock syndrome, Gorlin-Vickers syndrome, and Wagenmann-Froboese syndrome), none ever gained suffiicient traction to merit continued use and, indeed, are all but abandoned in the medical literature. Another early report was Schimke ''et al'' in 1968.<ref>{{cite journal |author=Schimke RN, Hartmann WH, Prout TE, Rimoin DL |title=Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue |journal=N. Engl. J. Med. |volume=279 |issue=1 |pages=1–7 |year=1968 |pmid=4968712 |doi= |url=}}</ref>
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| [[OMIM]] also includes a fourth form of multiple endocrine neoplasia ("MEN4"), associated with CDKN1B.<ref>{{OMIM|610755|MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4}}</ref> The presentation is believed to overlap that of MEN1 and MEN2.<ref name="pmid17030811">{{cite journal |author=Pellegata NS, Quintanilla-Martinez L, Siggelkow H, ''et al'' |title=Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue=42 |pages=15558–63 |year=2006 |month=Oct |pmid=17030811 |pmc=1622862 |doi=10.1073/pnas.0603877103 |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17030811}}</ref> | | ==[[Multiple endocrine neoplasia screening|Screening]]== |
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| ==MEN type 1== | | ==[[Multiple endocrine neoplasia causes|Causes]]== |
| {{main|Multiple endocrine neoplasia type 1}}
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| Type 1 is also known as Wermer's syndrome after Dr Paul Wermer, who described it in 1954:<ref>Wermer P. ''Genetic aspect of adenomatosis of endocrine glands.'' Am J Med 1954;16:363-371. PMID 13138607.</ref>
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| #[[Parathyroid]] hyperplasia/tumour causing [[hyperparathyroidism]].
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| #Pancreatic [[islet cell]] tumours causing [[hypoglycaemia]] ([[insulinoma]]) and [[Zollinger-Ellison syndrome]] ([[gastrinoma]]).
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| #[[Pituitary]] adenoma which may cause pituitary hormone excess.
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| The causative mutation is in the MEN1 gene at 11q13 which encodes a nuclear protein called menin that is believed to act as a tumor suppressor. Most cases of multiple endocrine neoplasia type 1 are inherited in an [[autosomal dominant]] pattern.
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| ==MEN type 2== | | ==[[Multiple endocrine neoplasia differential diagnosis|Differentiating Multiple endocrine neoplasia from other Diseases]]== |
| ===MEN type 2/type 2a===
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| {{main|Multiple endocrine neoplasia type 2}}
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| MEN syndrome types 2 and 3 have their basis in molecular genetics. Individuals can be tested for this genetic disorder reliably even when asymptomatic. The mutation is in the [[RET proto-oncogene]]. Most cases of multiple endocrine neoplasia types 2 and 3 are inherited in an [[autosomal dominant]] pattern.
| | ==[[Multiple endocrine neoplasia natural history|Natural History, Complications & Prognosis]]== |
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| Type 2 is also known as Sipple syndrome (after the American Dr John H. Sipple, who described it in 1961)<ref>Sipple JH. ''The association of pheochromocytoma with carcinoma of the thyroid gland.'' Am J Med 1961;31:163-166.</ref> and used to be called type 2A:
| | ==Diagnosis== |
| | [[Multiple endocrine neoplasia history and symptoms|History & Symptoms]] | [[Multiple endocrine neoplasia physical examination|Physical Examination]] | [[Multiple endocrine neoplasia staging|Staging]] | [[Multiple endocrine neoplasia laboratory tests|Lab Tests]] | [[Multiple endocrine neoplasia electrocardiogram|Electrocardiogram]] | [[Multiple endocrine neoplasia chest x ray|Chest X Ray]] | [[Multiple endocrine neoplasia CT|CT]] | [[Multiple endocrine neoplasia MRI|MRI]] | [[Multiple endocrine neoplasia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Multiple endocrine neoplasia other imaging findings|Other Imaging Findings]] | [[Multiple endocrine neoplasia other diagnostic studies|Other Diagnostic Studies]] |
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| #[[Medullary carcinoma]] of the [[thyroid]] which is associated with increased [[calcitonin]] secretion. A test for elevated calcitonin should be done after [[pentagastrin]] injection and/or calcium infusion, to ensure that all affected patients are detected.
| | ==Treatment== |
| #[[Pheochromocytoma]]
| | [[Multiple endocrine neoplasia medical therapy|Medical Therapy]] | [[Multiple endocrine neoplasia surgery|Surgery]] | [[Multiple endocrine neoplasia primary prevention|Primary Prevention]] | [[Multiple endocrine neoplasia secondary prevention|Secondary Prevention]] |
| #[[Parathyroid]] hyperplasia/tumour causing [[hyperparathyroidism]].
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| ===MEN type 3/type 2b=== | | ==Resources== |
| This syndrome has no eponym; it was described by Schimke ''et al'' in 1968.<ref>Schimke RN, Hartmann WH, Prout TE, Rimoin DL. ''Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue.'' [[N Engl J Med]] 1968;279:1-7. PMID 4968712</ref> Originally thought to be a third MEN, then considered a variant of II (especially after linkage to ''RET'' was confirmed), it is now considered its own syndrome.
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| #[[Pheochromocytoma]]
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| #Medullary carcinoma of [[thyroid]] which is associated with increased [[calcitonin]] secretion. A test for elevated calcitonin should be done after pentagastrin injection and/or calcium infusion, to ensure that all affected patients are detected.
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| #Mucosal neuromas which are usually situated in the [[gastrointestinal tract]].
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| #[[Marfan syndrome|Marfanoid]] habitus
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| ==References==
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| {{reflist|2}}
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| ==External links==
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| * [http://endocrine.niddk.nih.gov/ Endocrine and Metabolic Diseases Information Service] | | * [http://endocrine.niddk.nih.gov/ Endocrine and Metabolic Diseases Information Service] |
| * [http://www.amend.org.uk/ The Association for Multiple Endocrine Neoplasia Disorders (AMEND)] | | * [http://www.amend.org.uk/ The Association for Multiple Endocrine Neoplasia Disorders (AMEND)] |
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| {{Endocrine pathology}} | | {{Endocrine pathology}} |
| {{Tumor morphology}} | | {{Tumor morphology}} |
| {{SIB}}
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| | [[Category:Disease]] |
| | [[Category:Types of cancer]] |
| [[Category:Endocrinology]] | | [[Category:Endocrinology]] |
| [[Category:Hereditary cancers]] | | [[Category:Hereditary cancers]] |
| [[Category:Oncology]] | | [[Category:Oncology]] |
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| [[da:Multipel endokrin neoplasi]] | | [[da:Multipel endokrin neoplasi]] |