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Multiple endocrine neoplasia, type 2a(MEN2A)

MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Synonyms: MEN 2A; MEN-2A syndrome; MEN2A; Multiple Endocrine Neoplasia Type 2; MULTIPLE ENDOCRINE NEOPLASIA TYPE IIA; Multiple endocrine neoplasia, type 2; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; PTC syndrome; Sipple syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Multiple endocrine neoplasia, type 2 (61808009); MEN, type 2 (61808009); Sipple syndrome (61808009); PTC syndrome (61808009); Familial chromaffinomatosis (61808009); MEA, type 2 (61808009); Multiple endocrine adenomatosis, type 2 (61808009); MEN 2A - Multiple endocrine neoplasia syndrome type 2A (61808009); Multiple endocrine neoplasia syndrome type 2A (61808009); MEN 2A syndrome (61808009); Sipple's syndrome (61808009)
 
Gene: RET
Cytogenetic location: 10q11.21
OMIM: 171400

Disease characteristics

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and an asthenic ‘marfanoid’ body habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jessica Moline  |  Charis Eng   view full author information

Additional descriptions

From OMIM
Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (162300), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001). For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100).  http://www.omim.org/entry/171400
From GHR
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.  http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia

Clinical features

Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Medullary thyroid carcinoma
MedGen UID:
505380
Concept ID:
CN002590
Finding
The presence of a `medullary carcinoma` (MPATH:291) of the `thyroid gland` (FMA:9603).
Parathyroid adenoma
MedGen UID:
505395
Concept ID:
CN002620
Finding
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Hyperparathyroidism
MedGen UID:
504623
Concept ID:
CN000789
Finding
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Hypercortisolism
MedGen UID:
427887
Concept ID:
CN001437
Finding
Overproduction of the hormone of `cortisol` (CHEBI:17650) by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Medullary thyroid carcinoma
MedGen UID:
505380
Concept ID:
CN002590
Finding
The presence of a `medullary carcinoma` (MPATH:291) of the `thyroid gland` (FMA:9603).
Parathyroid adenoma
MedGen UID:
505395
Concept ID:
CN002620
Finding
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Abnormality of the integument
MedGen UID:
428273
Concept ID:
CN001435
Finding
An abnormality of the `integument` (FMA:74657), which consists of the skin and the superficial fascia.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Raue F, Rondot S, Schulze E, Szpak-Ulczok S, Jarzab B, Frank-Raue K
Eur J Hum Genet 2012 Jan;20(1) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.142. [Epub ahead of print] PMID: 21863057Free PMC Article
American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr
Thyroid 2009 Jun;19(6):565-612. doi: 10.1089/thy.2008.0403. PMID: 19469690
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ
J Clin Endocrinol Metab 2001 Dec;86(12):5658-71. doi: 10.1210/jcem.86.12.8070. PMID: 11739416
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy GN, Mulligan LM
JAMA 1996 Nov 20;276(19):1575-9. PMID: 8918855

Recent clinical studies

Etiology

Kidd KK, Kidd JR, Castiglione CM, Genel M, Darby J, Cavalli-Sforza LL, Gusella JF
Hum Hered 1986;36(4):243-9. PMID: 2875939
Heath H 3rd, Sizemore GW, Carney JA
J Clin Endocrinol Metab 1976 Aug;43(2):428-35. doi: 10.1210/jcem-43-2-428. PMID: 950371

Diagnosis

McDermott MB, Swanson PE, Wick MR
Hum Pathol 1995 Dec;26(12):1308-12. PMID: 8522302
Heath H 3rd, Sizemore GW, Carney JA
J Clin Endocrinol Metab 1976 Aug;43(2):428-35. doi: 10.1210/jcem-43-2-428. PMID: 950371

Prognosis

Heath H 3rd, Sizemore GW, Carney JA
J Clin Endocrinol Metab 1976 Aug;43(2):428-35. doi: 10.1210/jcem-43-2-428. PMID: 950371

Clinical prediction guides

Kidd KK, Kidd JR, Castiglione CM, Genel M, Darby J, Cavalli-Sforza LL, Gusella JF
Hum Hered 1986;36(4):243-9. PMID: 2875939
Heath H 3rd, Sizemore GW, Carney JA
J Clin Endocrinol Metab 1976 Aug;43(2):428-35. doi: 10.1210/jcem-43-2-428. PMID: 950371

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