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Multiple endocrine neoplasia type 2A(MEN2A)

MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Synonyms: MEN 2A; MEN-2A syndrome; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; PTC SYNDROME; SIPPLE SYNDROME
SNOMED CT: Multiple endocrine neoplasia type 2A (721188000); MEN (multiple endocrine neoplasia) type 2A (721188000); MEN2A - multiple endocrine neoplasia type 2A (721188000)
Modes of inheritance:
 
RET (10q11.21)
 
Monarch Initiative: MONDO:0008234
OMIM®: 171400
Orphanet: ORPHA247698
Authors:

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 MedlinePlus Genetics
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.

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 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.

Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called 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.  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Elisei R, Bottici V, Cappagli V, Ramone T, Tacito A, Ciampi R, Romei C
Ann Endocrinol (Paris) 2019 Jun;80(3):187-190. Epub 2019 Apr 11 doi: 10.1016/j.ando.2019.04.014. PMID: 31053251
Raue F, Frank-Raue K
Clinics (Sao Paulo) 2012;67 Suppl 1(Suppl 1):69-75. doi: 10.6061/clinics/2012(sup01)13. PMID: 22584709Free PMC Article
Tateishi H, Takai S, Nishisho I, Miki T, Motomura K, Okazaki M, Miyauchi A, Ikeuchi T, Yamamoto K, Hattori T
Henry Ford Hosp Med J 1987;35(2-3):157-60. PMID: 2891649

Curated

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. PMID: 21863057Free PMC Article

Recent clinical studies

Etiology

Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
You YN, Lakhani V, Wells SA Jr, Moley JF
Surg Oncol Clin N Am 2006 Jul;15(3):639-60. doi: 10.1016/j.soc.2006.05.008. PMID: 16882502
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

Diagnosis

Jayasinghe R, Basnayake O, Jayarajah U, Seneviratne S
J Int Med Res 2022 Jul;50(7):3000605221110698. doi: 10.1177/03000605221110698. PMID: 35822284Free PMC Article
Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Thyroid 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335. PMID: 25810047Free PMC Article
White ML, Doherty GM
Surg Oncol Clin N Am 2008 Apr;17(2):439-59, x. doi: 10.1016/j.soc.2007.12.002. PMID: 18375361
Heath D
J R Coll Physicians Lond 1998 Mar-Apr;32(2):98-101. PMID: 9597619Free PMC Article
Miller JA, Norton JA
Cancer Treat Res 1997;90:213-25. doi: 10.1007/978-1-4615-6165-1_11. PMID: 9367085

Therapy

Puerto M, Borson-Chazot F, Tabarin A
Ann Endocrinol (Paris) 2022 Apr;83(2):114-118. Epub 2021 Dec 16 doi: 10.1016/j.ando.2021.12.002. PMID: 34921811
Fallahi P, Ferrari SM, Galdiero MR, Varricchi G, Elia G, Ragusa F, Paparo SR, Benvenga S, Antonelli A
Semin Cancer Biol 2022 Feb;79:180-196. Epub 2020 Nov 26 doi: 10.1016/j.semcancer.2020.11.013. PMID: 33249201
Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Thyroid 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335. PMID: 25810047Free PMC Article
White ML, Doherty GM
Surg Oncol Clin N Am 2008 Apr;17(2):439-59, x. doi: 10.1016/j.soc.2007.12.002. PMID: 18375361
Macdonald JS
Curr Opin Oncol 1991 Feb;3(1):139-41. doi: 10.1097/00001622-199102000-00019. PMID: 1675125

Prognosis

Puerto M, Borson-Chazot F, Tabarin A
Ann Endocrinol (Paris) 2022 Apr;83(2):114-118. Epub 2021 Dec 16 doi: 10.1016/j.ando.2021.12.002. PMID: 34921811
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
Delorme S, Raue F
Recent Results Cancer Res 2015;204:91-116. doi: 10.1007/978-3-319-22542-5_4. PMID: 26494385
You YN, Lakhani V, Wells SA Jr, Moley JF
Surg Oncol Clin N Am 2006 Jul;15(3):639-60. doi: 10.1016/j.soc.2006.05.008. PMID: 16882502
Heath D
J R Coll Physicians Lond 1998 Mar-Apr;32(2):98-101. PMID: 9597619Free PMC Article

Clinical prediction guides

Al-Salameh A, Baudry C, Cohen R
Presse Med 2018 Sep;47(9):722-731. Epub 2018 Jun 13 doi: 10.1016/j.lpm.2018.03.005. PMID: 29909163
Romei C, Ciampi R, Elisei R
Nat Rev Endocrinol 2016 Apr;12(4):192-202. Epub 2016 Feb 12 doi: 10.1038/nrendo.2016.11. PMID: 26868437
Tsang VH, Tacon LJ, Learoyd DL, Robinson BG
Recent Results Cancer Res 2015;204:157-78. doi: 10.1007/978-3-319-22542-5_7. PMID: 26494388
Delorme S, Raue F
Recent Results Cancer Res 2015;204:91-116. doi: 10.1007/978-3-319-22542-5_4. PMID: 26494385
Lodish MB, Stratakis CA
Expert Rev Anticancer Ther 2008 Apr;8(4):625-32. doi: 10.1586/14737140.8.4.625. PMID: 18402529Free PMC Article

Recent systematic reviews

Scapineli JO, Ceolin L, Puñales MK, Dora JM, Maia AL
Fam Cancer 2016 Oct;15(4):625-33. doi: 10.1007/s10689-016-9892-6. PMID: 26920351
Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. PMID: 24972642
Scholten A, Schreinemakers JM, Pieterman CR, Valk GD, Vriens MR, Borel Rinkes IH
Endocr Pract 2011 Jan-Feb;17(1):7-15. doi: 10.4158/EP10050.OR. PMID: 20570815

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