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__NOTOC__
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{{CMG}}; {{AE}} {{Ammu}}
{{Multiple endocrine neoplasia}}
'''For patient information, click [[{{PAGENAME}} (patient information)|here]].'''


{{SK}} MEN syndromes
{{CMG}}; {{AE}} {{Ammu}} {{Soroush}}
==Overview==
Multiple endocrine neoplasia (MEN) encompasses several distinct [[syndrome]]s featuring [[Endocrine gland neoplasm|tumors of endocrine gland]]s, each with its own characteristic pattern. Multiple endocrine neoplasia may be classified according to [[tumor]] characteristics into 3 subtypes: [[Multiple endocrine neoplasia type 1]], [[Multiple endocrine neoplasia type 2a]], and Multiple endocrine neoplasia type 2b.
==Multiple Endocrine Neoplasia==
* The term multiple endocrine neoplasia (MEN) encompasses several distinct [[syndrome]]s featuring [[Endocrine gland neoplasm|tumors of endocrine gland]]s, each with its own characteristic pattern.  In some cases, the [[tumor]]s are [[malignant]], in others, [[benign]]. [[Benign]] or [[malignant]] [[tumor]]s of nonendocrine [[tissue]]s occur as components of some of these [[tumor]] [[syndrome]]s.
* MEN syndromes are inherited as [[autosomal dominant]] disorders.<ref>{{DorlandsDict|six/000070637|multiple endocrine neoplasia}}</ref>
===See also===
* [[Multiple endocrine neoplasia type 1]]
* [[Multiple endocrine neoplasia type 2a]]
* Multiple endocrine neoplasia type 2b


==Terminology==
{{SK}} MEN syndromes; Familial endocrine adenomatosis; Multiple endocrine adenomatosis; Multiple endocrine neoplasia syndrome; MEN; MEN-Multiple endocrine neoplasia syndrome; Multiple endocrine neoplasms
* The older names, "multiple endocrine [[adenomas]]" and "multiple endocrine [[adenomatosis]]" (MEA), have been replaced by the current terminology.
* The term multiple endocrine neoplasia is used when two or more [[endocrine]] [[tumor]] types, known to occur as a part of one of the defined MEN syndromes, occurs in a single patient and there is evidence for either a causative [[mutation]] or hereditary transmission. The presence of two or more [[tumor]] types in a single patient does not automatically designate that individual as having MEN because there is a small statistical chance that development of two "sporadic" [[tumor]]s that occur in one of the MEN syndromes could occur by chance.
* The term "multiple endocrine neoplasia" was introduced in 1968, but descriptions of the condition date back to 1903.<ref name="pmid15644784">{{cite journal |author=Carney JA |title=Familial multiple endocrine neoplasia: the first 100 years |journal=Am. J. Surg. Pathol. |volume=29 |issue=2 |pages=254–74 |date=Feb 2005 |pmid=15644784 |doi= 10.1097/01.pas.0000147402.95391.41|url=http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0147-5185&volume=29&issue=2&spage=254}}</ref>


==Related Conditions==
:'''For multiple endocrine neoplasia type 1, click [[Multiple endocrine neoplasia type 1|here]].'''
* Although not officially categorized as multiple endocrine neoplasia syndromes, [[Von Hippel-Lindau disease]]<ref name="pmid9681839">{{cite journal |author=Carney JA |title=Familial multiple endocrine neoplasia syndromes: components, classification, and nomenclature |journal=J. Intern. Med. |volume=243 |issue=6 |pages=425–32 |date=Jun 1998 |pmid=9681839 |doi= 10.1046/j.1365-2796.1998.00345.x|url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0954-6820&date=1998&volume=243&issue=6&spage=425}}</ref> and [[Carney complex]]<ref name="pmid18672144">{{cite journal |author=Callender GG, Rich TA, Perrier ND |title=Multiple endocrine neoplasia syndromes |journal=Surg. Clin. North Am. |volume=88 |issue=4 |pages=863–95 |date=Aug 2008 |pmid=18672144 |doi=10.1016/j.suc.2008.05.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S0039-6109(08)00070-4}}</ref> are two other [[autosomal dominant]] [[endocrine]] [[tumor]] [[syndrome]]s with features that overlap the clinical features of the MEN syndromes. Although not transmitted in the [[germline]], [[McCune-Albright syndrome]] is a [[genetic disorder]] characterized by [[endocrine]] neoplastic features involving [[endocrine]] [[gland]]s that overlap with those involved in [[MEN1]] or [[MEN2]].
:'''For multiple endocrine neoplasia type 2a, click [[Multiple endocrine neoplasia type 2|here]].'''
:'''For multiple endocrine neoplasia type 2b, click [[Multiple endocrine neoplasia type 2|here]].'''
:'''For multiple endocrine neoplasia type 4, click [[multiple endocrine neoplasia type 4|here]].'''


== History ==
==Overview==
* In 1903 Erdheim described the case of an acromegalic patient with a [[pituitary adenoma]] and three enlarged [[parathyroid gland]]s.
Multiple endocrine neoplasia (MEN) encompasses several distinct [[syndrome]]s featuring [[Endocrine gland neoplasm|tumors of endocrine gland]]s, each with its own characteristic pattern. Multiple endocrine neoplasia may be classified according to [[tumor]] characteristics into 3 subtypes: [[multiple endocrine neoplasia type 1]], [[multiple endocrine neoplasia type 2]] and [[multiple endocrine neoplasia type 4]].
* In 1953 Underdahl ''et al.'' reported a case series of 8 patients with a [[syndrome]] of [[pituitary]], [[parathyroid]], and pancreatic islet [[adenoma]]s.
==Classification==
* In 1954 Wermer noted that this [[syndrome]] was transmitted as a dominant trait.
* The following flowchart depicts the classification of multiple endocrine neoplasia.<ref name="pmid25810047">{{cite journal| author=Wells SA, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF et al.| title=Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. | journal=Thyroid | year= 2015 | volume= 25 | issue= 6 | pages= 567-610 | pmid=25810047 | doi=10.1089/thy.2014.0335 | pmc=PMC4490627 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25810047  }} </ref>
* In 1959 Hazard ''et al.'' described medullary (solid) [[thyroid carcinoma]].
{{Familytree/start}}
* In 1961 Sipple described a combination of a [[pheochromocytoma]], [[medullary thyroid carcinoma]] and [[parathyroid adenoma]].
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01= Multiple endocrine neoplasia}}
* In 1966 Williams ''et al.'' described the combination of mucosal neuromas, [[pheochromocytoma]] and [[medullary thyroid carcinoma]].
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | |,|-|-|-|-|^|-|-|-|-|v|-|-|-|-|-|-|-|-|-|-|-|.| | | | | | |}}
* In 1968 Steiner ''et al.'' 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 MEN 2.
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | B01 | | | | | | | | B02 | | | | | | | | | | B03 | | | | |B01= [[Multiple endocrine neoplasia type 1]]|B02= [[Multiple endocrine neoplasia type 2]]|B03= [[Multiple endocrine neoplasia type 4]]}}
* In 1974 Sizemore ''et al.'' showed that the MEN 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 ([[MEN 2B]]).
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | | | | | | | |,|-|^|-|-|-|-|-|-|-|-|-|.| | | | |}}
* In 1988 the [[MEN1]] [[locus]] was assigned to [[Chromosome]] 11 (11q13).
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | | | | | | | C01 | | | | | | | | | | C02 | | | |C01= [[Multiple endocrine neoplasia type 2A]]|C02= [[Multiple endocrine neoplasia type 2B]]/Multiple endocrine neoplasia type 3}}
* In 1993  [[mutation]]s in the RET [[oncogene]] were shown to be the cause of MEN 2A by Lois Mulligan, working in the laboratory of Dr Bruce Ponder in Cambridge.<ref>Germ-line [[mutation]]s of the [[RET]] proto-[[oncogene]] in [[multiple endocrine neoplasia type 2]]A.
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | |,|-|-|-|v|-|^|-|-|v|-|-|-|.| | | | |!| | | | | | | | | | | | | |}}
Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, et al. ''Nature'' 1993 Jun 3;363(6428) 458-60 PMID 8099202</ref>
{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | D01 | | D02 | | | D03 | | D04 | | | D05 | | | | | | | | | | |D01= [[Multiple endocrine neoplasia type 2A]] classical|D02= [[Multiple endocrine neoplasia type 2A]] with cutaneous lichen amyloidosis|D03= [[Multiple endocrine neoplasia type 2A]] with [[Hirschsprung disease]]|D04= [[Familial medullary thyroid carcinoma]] without [[pheochromocytoma]] or [[parathyroid]] hyperplasia|D05= [[Medullary thyroid cancer]], [[pheochromocytoma]], marfanoid habitus, and [[mucosal neuroma]]s or intestinal [[ganglioneuroma]]s}}
* In 1998 the 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>
{{Familytree/end}}


==Comparison==
==Comparison==
Percentages in table below refer to how large fraction of people with the MEN type develop the [[neoplasia]] type.
* The following diagram compares the various types of multiple endocrine neoplasia.<ref> Multiple endocrine neoplasia type 2. Wikipedia(30.09,2015)https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia accessed on September, 30, 2015</ref>
[[File:Multiple endocrine neoplasia.png|left|500px|Presentations of Multiple endocrine neoplasia.]]
<br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br><br>
 
* The following table compares the various types of multiple endocrine neoplasia.<ref> Multiple endocrine neoplasia type 2. Wikipedia(30.09,2015)https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia accessed on September, 30, 2015</ref>
{| class="wikitable"
{| class="wikitable"
|-
|-
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|-
|-
| Eponym
| Eponym
| Wermer syndrome
| [[Wermer syndrome]]
| Sipple syndrome
| [[Sipple syndrome]]
| (multiple)
| (multiple)
| (none)
| (none)
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<nowiki>*</nowiki>- of patients with MEN1 and gastrinoma
<nowiki>*</nowiki>- of patients with MEN1 and gastrinoma


FMTC = familial medullary [[thyroid]] [[cancer]]
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* Multiple endocrine neoplasia type 2b|MEN 2B is sometimes known as MEN 3 and the designation varies by institution (c.f. www.ClinicalReview.com).
* Although a variety of additional eponyms have been proposed for MEN2B (e.g. Williams-Pollock syndrome, Gorlin-Vickers syndrome, and Wagenmann–Froboese syndrome), none ever gained sufficient 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= 10.1056/NEJM196807042790101|url=}}</ref>
* [[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 |date=Oct 2006 |pmid=17030811 |pmc=1622862 |doi=10.1073/pnas.0603877103 |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17030811|bibcode=2006PNAS..10315558P |last2=Quintanilla-Martinez |last3=Siggelkow |last4=Samson |last5=Bink |last6=Hofler |last7=Fend |last8=Graw |last9=Atkinson  }}</ref>
 
== Multiple Endocrine Neoplasia Type 1 (MEN1) ==
=== The MEN1 gene ===
* The [[MEN1]] [[gene]] consists of ten [[exon]]s, spanning about 10 kb, and encodes a 610 [[amino acid]] [[protein]] named menin. The first [[exon]] and the last part of [[exon]] 10 are not translated. A main transcript of 2.8 kb has been described in a large variety of human [[tissue]]s ([[pancreas]], [[thymus]], [[adrenal gland]]s, [[thyroid]], [[testis]], [[leukocyte]]s, [[heart]], [[brain]], [[lung]], [[muscle]], [[small intestine]], [[liver]], and [[kidney]]); an additional transcript of approximately 4 kb has been detected in [[pancreas]] and [[thymus]], suggesting a [[tissue]]-specific alternative splicing.
 
=== The Menin Protein ===
* Menin is a 610 [[amino acid]] (67Kda) nuclear [[protein]], highly conserved from mouse (98%), rat (97%) and, more distantly, zebrafish (75%) and [[Drosophila]] (47%) (47-51). Human and mouse MEN1 [[amino acid]] sequences share 95.8% identity and 98.4% similarity. Analysis of menin [[amino acid]] sequence did not reveal homologies to any other known human or mammalian [[protein]], sequence motif, or signal [[peptide]]. The absence of significant homology to any other [[protein]] complicates efforts to elucidate the functions of menin.
 
=== Pathophysiology ===
* MEN1 follows Knudson’s “two-hit” model for [[tumor suppressor]] [[gene]] [[carcinogenesis]]. The first hit is a [[heterozygous]] [[MEN1]] [[germline mutation]], inherited from one parent (familial cases) or developed in an early embryonic stage (sporadic cases) and present in all [[cell]]s at birth. The second hit is a [[MEN1]] [[somatic mutation]], usually a large [[deletion]], that occurs in the predisposed [[endocrine]] [[cell]] as loss of the remaining wild-type [[allele]] and gives [[cell]]s the survival advantage needed for [[tumor]] development.
 
=== Mnemonic ===
* A useful mnemonic to remember the associated neoplasias is below:
:* MEN I '''(3 Ps)''' - [[Pituitary]], [[Parathyroid]], [[Pancreatic]]<br>
:* MEN IIa '''(1M,2Ps)''' - Medullary [[Thyroid]] [[Carcinoma]], [[Pheochromocytoma]], [[Parathyroid]]<br>
:* MEN IIb '''(2Ms,1P)''' - Medullary [[Thyroid]] [[Carcinoma]], Marfanoid habitus/mucosal [[neuroma]], [[Pheochromocytoma]]
 
=== ''MEN1'' mutations in multiple endocrine neoplasia patients and clinical genetics ===
* MEN1 [[gene]] [[mutation]]s can be identified in 70-95% of MEN1 patients and in about 20% of familial isolated [[hyperparathyroidism]] cases. Almost all patients are [[heterozygous]] for [[mutation]]s. One affected family has been identified with individuals both [[homozygous]] and [[heterozygous]] for [[MEN1]] [[mutation]]s. In this family, there was no difference in disease history between the [[homozygous]] and [[heterozygous]] [[mutation]] carriers.
* Fifty percent of patients develop signs and [[symptom]]s by 20 years of age and more than 95% have symptoms by 40 years of age. There is significant intra- and inter-familial variability in the age of onset, severity of [[disease]], and [[tumor]] types. Despite numerous studies, no [[genotype]]-[[phenotype]] correlations have been established, suggesting that unknown genetic and environmental modifiers are involved in the expression of the [[MEN1]] [[phenotype]].<ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=ch1famcan |title= Multiple Endocrine Neoplasia Type 1: In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009|accessdate=2009-09-01 |format= |work=}}</ref>
 
=== Manifestations ===
* Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary [[endocrine]] [[cancer]] [[syndrome]] characterized primarily by [[tumor]]s of the [[parathyroid gland]]s (95% of cases), [[endocrine]] gastroenteropancreatic (GEP) tract (30-80% of cases), and anterior [[pituitary]] (15-90% of cases).<ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=ch1famcan |title= Multiple Endocrine Neoplasia Type 1 : In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009|accessdate=2009-09-11 |format= |work=}}</ref> Other [[endocrine]] and non-[[endocrine]] [[neoplasm]]s including adrenocortical and [[thyroid]] [[tumor]]s, visceral and cutaneous [[lipoma]]s, [[meningioma]]s, facial [[angiofibroma]]s and collagenomas, and thymic, gastric, and bronchial [[carcinoid]]s also occur. The [[phenotype]] of [[MEN1]] is broad, and over 20 different combinations of [[endocrine]] and non-[[endocrine]] manifestations have been described. [[MEN1]] should be suspected in patients with an [[endocrinopathy]] of two of the three characteristic affected organs, or with an [[endocrinopathy]] of one of these organs plus a first-degree relative affected by [[MEN1]] syndrome.
* [[MEN1]] patients usually have a family history of [[MEN1]]. Inheritance is [[autosomal dominant]]; any affected parent has a 50% chance to transmit the [[disease]] to his or her progeny. [[MEN1]] [[gene]] [[mutation]]s can be identified in 70-95% of [[MEN1]] patients.
* Many [[endocrine]] [[tumor]]s in [[MEN1]] are [[benign]] and cause symptoms by overproduction of [[hormone]]s or local mass effects, while other [[MEN1]] [[tumor]]s are associated with an elevated risk for [[malignancy]]. About one third of patients affected with [[MEN1]] will die early from an [[MEN1]]-related [[cancer]] or associated [[malignancy]]. Entero-pancreatic [[gastrinoma]]s and thymic and bronchial [[carcinoid]]s are the leading cause of morbidity and mortality. Consequently, the average age of death in individuals with [[MEN1]] is significantly lower (55.4 years for men and 46.8 years for women) than that of the general population.


=== Recommended cancer surveillance ===
* A recommend surveillance program for Multiple Endocrine Neoplasia Type 1 has been suggested by the International Guidelines for Diagnosis and Therapy of MEN syndromes group. <ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan&part=ch3famcan&rendertype=table&id=ch3famcan.T6|title= Multiple Endocrine Neoplasia Type 1: In Familial Cancer Syndromes. DL Riegert-Johnson and others. NCBI 2009|accessdate=2009-09-01 |format= |work=}}</ref>
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


==External links==
{{WikiDoc Help Menu}}
* [http://endocrine.niddk.nih.gov/ Endocrine and Metabolic Diseases Information Service]
{{WikiDoc Sources}}
* [http://www.amend.org.uk/ The Association for Multiple Endocrine Neoplasia Disorders (AMEND)]
* [http://www.arup.utah.edu/database/MEN2/MEN2_welcome.php/ Multiple Endocrine Neoplasia type 2 (MEN2 RET database)]


[[Category:Hereditary cancers]]
[[Category:Disease]]
[[Category:Oncology]]
[[Category:Up-To-Date]]
[[Category:Oncology]]
[[Category:Medicine]]
[[Category:Endocrinology]]
[[Category:Surgery]]

Latest revision as of 16:43, 8 October 2019

Multiple endocrine neoplasia Microchapters

Patient Information

Overview

Classification

Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 4

Causes

Differential Diagnosis

For patient information, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [4] Soroush Seifirad, M.D.[5]

Synonyms and keywords: MEN syndromes; Familial endocrine adenomatosis; Multiple endocrine adenomatosis; Multiple endocrine neoplasia syndrome; MEN; MEN-Multiple endocrine neoplasia syndrome; Multiple endocrine neoplasms

For multiple endocrine neoplasia type 1, click here.
For multiple endocrine neoplasia type 2a, click here.
For multiple endocrine neoplasia type 2b, click here.
For multiple endocrine neoplasia type 4, click here.

Overview

Multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. Multiple endocrine neoplasia may be classified according to tumor characteristics into 3 subtypes: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and multiple endocrine neoplasia type 4.

Classification

  • The following flowchart depicts the classification of multiple endocrine neoplasia.[1]
 
 
 
 
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 1
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 2
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 4
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 2A
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 2B/Multiple endocrine neoplasia type 3
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Multiple endocrine neoplasia type 2A classical
 
Multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis
 
 
Multiple endocrine neoplasia type 2A with Hirschsprung disease
 
Familial medullary thyroid carcinoma without pheochromocytoma or parathyroid hyperplasia
 
 
Medullary thyroid cancer, pheochromocytoma, marfanoid habitus, and mucosal neuromas or intestinal ganglioneuromas
 
 
 
 
 
 
 
 
 
 

Comparison

  • The following diagram compares the various types of multiple endocrine neoplasia.[2]
Presentations of Multiple endocrine neoplasia.
Presentations of Multiple endocrine neoplasia.























  • The following table compares the various types of multiple endocrine neoplasia.[3]
Feature MEN 1 MEN 2
MEN 2A MEN 2B FMTC
Eponym Wermer syndrome Sipple syndrome (multiple) (none)
OMIM Template:OMIM4 Template:OMIM4 Template:OMIM4 Template:OMIM4
Pancreatic tumors gastrinoma (50%[4]),
insulinoma (20%[4]),
vipoma,
glucagonoma,
PPoma 		- - -
Pituitary adenoma 66%[4] - - -
Angiofibroma 64%*[5] - - -
Lipoma 17%*[5] - - -
Parathyroid hyperplasia 90%[4] 50%[4] - -
Medullary thyroid carcinoma - 100%[4] 85%[4] 100%
Pheochromocytoma - >33%[4] 50% -
Marfanoid body habitus - - 80% -
Mucosal neuroma - - 100%[4] -
Gene(s) MEN1 (Template:OMIM4) RET (Template:OMIM4) RET (Template:OMIM4) RET (Template:OMIM4),
NTRK1 (Template:OMIM4)
Approx. prevalence 1 in 35,000
(1 in 20,000 to
1 in 40,000)[6] 		1 in 40,000[7] 1 in 1,000,000
(1 in 600,000[8] to
1 in 4,000,000[9])[10]
Initial description (year) 1954[11] 1961[12] 1965

*- of patients with MEN1 and gastrinoma

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References

  1. ↑ Wells SA, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF; et al. (2015). "Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma". Thyroid. 25 (6): 567–610. doi:10.1089/thy.2014.0335. PMC 4490627. PMID 25810047.
  2. ↑ Multiple endocrine neoplasia type 2. Wikipedia(30.09,2015)https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia accessed on September, 30, 2015
  3. ↑ Multiple endocrine neoplasia type 2. Wikipedia(30.09,2015)https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia accessed on September, 30, 2015
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 Table 4-7 in:Elizabeth D Agabegi; Agabegi, Steven S. (2008). Step-Up to Medicine (Step-Up Series). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-7153-6.
  5. ↑ 5.0 5.1 Asgharian, B; Turner, ML; Gibril, F; Entsuah, LK; Serrano, J; Jensen, RT (November 2004). "Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1". The Journal of Clinical Endocrinology and Metabolism. 89 (11): 5328–36. doi:10.1210/jc.2004-0218. PMID 15531478.
  6. ↑ [1] 123I labeled metaiodobenzylguanidine for diagnosis of neuroendocrine tumors. Jiang L, Schipper ML, Li P, Cheng Z, Reports in Medical Imaging. 2009: 2 79-89
  7. ↑ Dora JM, Siqueira DR, Meyer EL, Puñales MK, Maia AL (November 2008). "Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A". Arq Bras Endocrinol Metabol. 52 (8): 1332–6. doi:10.1590/S0004-27302008000800021. PMID 19169490.
  8. ↑ Marx, Stephen J (2011). "Chapter 41: Multiple endocrine neoplasia". In Melmed, Shlomo. Williams Textbook of Endocrinology, 12th ed. pp. 1728–1767.
  9. ↑ Moline J, Eng C. (2011). "Multiple endocrine neoplasia type 2: An overview". Genetics in Medicine. 13 (9): 755–764. doi:10.1097/GIM.0b013e318216cc6d. PMID 21552134.
  10. ↑ Martino Ruggieri (2005). Neurocutaneous Disorders : The Phakomatoses. Berlin: Springer. ISBN 3-211-21396-1. - Chapter: Multiple Endocrine Neoplasia Type 2B by Electron Kebebew, Jessica E. Gosnell and Emily Reiff. Pages 695-701. [2] This reference quotes a prevalence of 1 in 40,000, but this figure is inconsistent with the same reference's calculated incidence of 4 per 100 million per year for MEN2B.
  11. ↑ Wermer P (1954). "Genetic aspects of adenomatosis of endocrine glands". Am. J. Med. 16 (3): 363–71. doi:10.1016/0002-9343(54)90353-8. PMID 13138607.
  12. ↑ Sipple JH (1961). "The association of pheochromocytoma with carcinoma of the thyroid gland". Am. J. Med. 31: 163–6. doi:10.1016/0002-9343(61)90234-0.


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