Multiple endocrine neoplasia type 2
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| Sipple syndrome Classification and external resources | |
| ICD-10 | D44.8 |
|---|---|
| ICD-9 | 193 |
| OMIM | 171400 |
| DiseasesDB | 7984 |
| MedlinePlus | 000399 |
| eMedicine | med/1520 |
| MEN type 2B Classification and external resources | |
| ICD-10 | D44.8 |
|---|---|
| OMIM | 162300 |
| DiseasesDB | 7991 |
| eMedicine | med/1520 |
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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 cancerous and noncancerous tumors in glands such as the thyroid, parathyroid, and adrenals. Multiple endocrine neoplasia occurs when tumors are found in at least two endocrine glands. Tumors can also develop in organs and tissues other than endocrine glands. If the tumors become cancerous, some cases can be life-threatening. The disorder effects 1 in 30,000 people.
Presentation
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 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 glands (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 bones, weakness, and fatigue.
Classification
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
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 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
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.
Differences in presentation
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.
See also
References
This article incorporates public domain text from The U.S. National Library of Medicine
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
