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   eMedicineTopic = 1520 |
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{{Multiple endocrine neoplasia type 2}}
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==[[Multiple endocrine neoplasia type 2 overview|Overview]]==


'''Multiple endocrine neoplasia type 2''' is part of a group of disorders that affect the [[endocrine system]]. These disorders greatly increase the risk of developing multiple [[cancer]]ous and noncancerous [[tumor]]s in glands such as the [[thyroid]], [[parathyroid]], and [[Adrenal gland|adrenals]]. Multiple endocrine neoplasia occurs when tumors are found in at least two endocrine glands. [[Tumor]]s can also develop in organs and tissues other than endocrine glands. If the [[tumor]]s become cancerous, some cases can be life-threatening. The disorder effects 1 in 30,000 people.
==[[Multiple endocrine neoplasia type 2 historical perspective|Historical Perspective]]==


==Presentation==
==[[Multiple endocrine neoplasia type 2 pathophysiology|Pathophysiology]]==
Although many different types of hormone-producing tumors are associated with multiple endocrine neoplasia, the most common sign of multiple endocrine neoplasia type 2 is a form of [[thyroid]] cancer called [[thyroid cancer#medullary thyroid cancer (MTC)|medullary thyroid carcinoma]]. This tumor secretes an inactive hormone called [[calcitonin]]. Many people with this disorder also develop [[pheochromocytoma]], which is a [[tumor]] of the [[adrenal gland]]s (located above each [[kidney]]) that can cause dangerously high [[blood pressure]]. In addition, overactivity of the [[parathyroid gland]] ([[hyperparathyroidism]]) occurs in some cases of [[multiple endocrine neoplasia type 2]]. [[Hyperparathyroidism]] disrupts the normal balance of [[calcium]] in the blood, which can lead to [[kidney stones]], thinning of [[bone]]s, [[weakness]], and [[fatigue]].


==Classification==
==[[Multiple endocrine neoplasia type 2 epidemiology and demographics|Epidemiology & Demographics]]==
The two major types of [[multiple endocrine neoplasia type 1]] and type 2, are often confused because they have similar names. These types are distinguished by the genes involved, the hormones that are affected, and their characteristic signs and symptoms. They are also very different in their options for cancer prevention and treatment. Multiple endocrine neoplasia type 2 can be further divided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors, but are relatively consistent within any one family.


==Causes==
==[[Multiple endocrine neoplasia type 2 risk factors|Risk Factors]]==
Mutations in the [[RET proto-oncogene]] cause multiple endocrine neoplasia type 2. The protein produced by the [[RET proto-oncogene]] gene normally plays an important role in signaling cells to respond to their environment, for example by [[cell division|dividing]] or maturing. Mutations in this gene cause an overactivation of the protein's signaling function, which can lead to an overgrowth of cells and the formation of tumors characteristic of multiple endocrine neoplasia type 2.


==Genetics==
==[[Multiple endocrine neoplasia type 2 screening|Screening]]==
[[Image:autodominant2.jpg|thumb|left|Most cases of multiple endocrine neoplasia type 2 are inherited in an [[autosomal dominant]] pattern.]]
Most cases of multiple endocrine neoplasia type 2 are inherited in an [[autosomal dominant]] pattern, which means affected people may have affected siblings and relatives in successive generations (such as parents and children). An affected person usually has one parent with the condition. Some cases, however, result from new mutations in the [[RET proto-oncogene]] gene. These cases occur in people with no history of the disorder in their family.


Germline mutations are responsible for sporadic MEN 2, while mutations in the cysteine residues in the exons of the RET protein product are common in familial MEN 2.
==[[Multiple endocrine neoplasia type 2 causes|Causes of Multiple endocrine neoplasia type 2]]==


==Differences in presentation==
==[[Multiple endocrine neoplasia type 2 differential diagnosis|Differentiating Multiple endocrine neoplasia type 2 from other Diseases]]==
MEN IIa is characterized by the presence of [[Medullary thyroid carcinoma]], [[pheochromocytoma]], and [[parathyroid]] [[hyperplasia]] or [[tumor]]. 


MEN IIb is characterized by the presence of [[pheochromocytoma]], mucocutaneous neuroma, and [[medullary thyroid cancer]].
==[[Multiple endocrine neoplasia type 2 natural history|Natural History, Complications & Prognosis]]==


==Notable cases==
==[[Multiple endocrine neoplasia type 2 classification|Classification]]==
It has been speculated that Abraham Lincoln had MEN 2B given his tall stature, lesions on his lips, weight loss and shape of his head <ref>http://www.msnbc.msn.com/id/30267859/</ref>
 
==Diagnosis==
[[Multiple endocrine neoplasia type 2 history and symptoms|History & Symptoms]] | [[Multiple endocrine neoplasia type 2 physical examination|Physical Examination]] | [[Multiple endocrine neoplasia type 2 laboratory tests|Lab Tests]] | [[Multiple endocrine neoplasia type 2 electrocardiogram|Electrocardiogram]] | [[Multiple endocrine neoplasia type 2 chest x ray|Chest X Ray]] | [[Multiple endocrine neoplasia type 2 CT|CT]] | [[Multiple endocrine neoplasia type 2 MRI|MRI]] | [[Multiple endocrine neoplasia type 2 echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Multiple endocrine neoplasia type 2 other imaging findings|Other Imaging Findings]] | [[Multiple endocrine neoplasia type 2 other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
[[Multiple endocrine neoplasia type 2 medical therapy|Medical Therapy]] | [[Multiple endocrine neoplasia type 2 surgery|Surgery]] | [[Multiple endocrine neoplasia type 2 primary prevention|Primary Prevention]] | [[Multiple endocrine neoplasia type 2 secondary prevention|Secondary Prevention]] | [[Multiple endocrine neoplasia type 2 cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Multiple endocrine neoplasia type 2 future or investigational therapies|Future or Investigational Therapies]]


== See also ==
== See also ==
* [[Multiple endocrine neoplasia]]
* [[Multiple endocrine neoplasia]]
* [[Multiple endocrine neoplasia type 1]]
* [[Multiple endocrine neoplasia type 1]]


==References==
==References==
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{{Endocrine pathology}}
{{Endocrine pathology}}
{{SIB}}
 
[[Category:Endocrine system]]
[[Category:Endocrine system]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]

Revision as of 18:10, 20 January 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

Pathophysiology

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Screening

Causes of Multiple endocrine neoplasia type 2

Differentiating Multiple endocrine neoplasia type 2 from other Diseases

Natural History, Complications & Prognosis

Classification

Diagnosis

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