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Multiple endocrine neoplasia, type 2(MEN2)

MedGen UID:: 887211
•Concept ID:: C4048306
•: Neoplastic Process

Synonym:	MEN2
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); Sipple's syndrome (61808009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	RET (10q11.21)

Monarch Initiative:	MONDO:0019003
Orphanet:	ORPHA653

Disease characteristics

Excerpted from the GeneReview: Multiple Endocrine Neoplasia Type 2

Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features of MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC. [from GeneReviews]

Authors:
Charis Eng | Gilman Plitt view full author information

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMultiple endocrine neoplasia, type 2

Inherited digestive cancer-predisposing syndrome
- Multiple endocrine neoplasia, type 2

Professional guidelines

PubMed

Management of medullary carcinoma of the thyroid: a review.

Jayasinghe R, Basnayake O, Jayarajah U, Seneviratne S
J Int Med Res 2022 Jul;50(7):3000605221110698. doi: 10.1177/03000605221110698. PMID: 35822284 Free PMC Article

Clinical relevance of phenotype/genotype correlations in the diagnosis and therapy of pheochromocytomas/paragangliomas.

Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giachè V, Fucci R, Mannelli M
Q J Nucl Med Mol Imaging 2013 Jun;57(2):112-21. PMID: 23822988

Genotype-phenotype correlation in multiple endocrine neoplasia type 2.

Raue F, Frank-Raue K
Clinics (Sao Paulo) 2012;67 Suppl 1(Suppl 1):69-75. doi: 10.6061/clinics/2012(sup01)13. PMID: 22584709 Free PMC Article

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Recent clinical studies

Etiology

Multiple endocrine neoplasia type 2: A review.

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

Pathology and genetics of phaeochromocytoma and paraganglioma.

Turchini J, Cheung VKY, Tischler AS, De Krijger RR, Gill AJ
Histopathology 2018 Jan;72(1):97-105. doi: 10.1111/his.13402. PMID: 29239044

Multiple endocrine neoplasia type 2.

Wohllk N, Schweizer H, Erlic Z, Schmid KW, Walz MK, Raue F, Neumann HP
Best Pract Res Clin Endocrinol Metab 2010 Jun;24(3):371-87. doi: 10.1016/j.beem.2010.02.001. PMID: 20833330

Phaeochromocytoma: state-of-the-art.

Donckier JE, Michel L
Acta Chir Belg 2010 Mar-Apr;110(2):140-8. doi: 10.1080/00015458.2010.11680587. PMID: 20514823

Temporal paragangliomas.

Suárez C, Sevilla MA, Llorente JL
Eur Arch Otorhinolaryngol 2007 Jul;264(7):719-31. Epub 2007 Mar 2 doi: 10.1007/s00405-007-0267-3. PMID: 17333230

See all (229)

Diagnosis

Management of medullary carcinoma of the thyroid: a review.

Jayasinghe R, Basnayake O, Jayarajah U, Seneviratne S
J Int Med Res 2022 Jul;50(7):3000605221110698. doi: 10.1177/03000605221110698. PMID: 35822284 Free PMC Article

Diagnosis and preoperative imaging of multiple endocrine neoplasia type 2: current status and future directions.

Taïeb D, Kebebew E, Castinetti F, Chen CC, Henry JF, Pacak K
Clin Endocrinol (Oxf) 2014 Sep;81(3):317-28. Epub 2014 Jun 28 doi: 10.1111/cen.12513. PMID: 24889858

Pheochromocytoma: a review.

Tsirlin A, Oo Y, Sharma R, Kansara A, Gliwa A, Banerji MA
Maturitas 2014 Mar;77(3):229-38. Epub 2014 Jan 5 doi: 10.1016/j.maturitas.2013.12.009. PMID: 24472290

Phaeochromocytoma: state-of-the-art.

Donckier JE, Michel L
Acta Chir Belg 2010 Mar-Apr;110(2):140-8. doi: 10.1080/00015458.2010.11680587. PMID: 20514823

Phaeochromocytoma.

Lenders JW, Eisenhofer G, Mannelli M, Pacak K
Lancet 2005 Aug 20-26;366(9486):665-75. doi: 10.1016/S0140-6736(05)67139-5. PMID: 16112304

See all (288)

Therapy

RET aberrant cancers and RET inhibitor therapies: Current state-of-the-art and future perspectives.

Addeo A, Miranda-Morales E, den Hollander P, Friedlaender A, O Sintim H, Wu J, Mani SA, Subbiah V
Pharmacol Ther 2023 Feb;242:108344. Epub 2023 Jan 9 doi: 10.1016/j.pharmthera.2023.108344. PMID: 36632846 Free PMC Article

Novel targeted therapeutics for MEN2.

Redaelli S, Plaza-Menacho I, Mologni L
Endocr Relat Cancer 2018 Feb;25(2):T53-T68. doi: 10.1530/ERC-17-0297. PMID: 29348306

Pheochromocytomas in Multiple Endocrine Neoplasia Type 2.

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

C-cell hyperplasia.

Guyétant S, Bléchet C, Saint-André JP
Ann Endocrinol (Paris) 2006 Jun;67(3):190-7. doi: 10.1016/s0003-4266(06)72585-9. PMID: 16840909

Multiple endocrine neoplasia type 2.

Gertner ME, Kebebew E
Curr Treat Options Oncol 2004 Aug;5(4):315-25. doi: 10.1007/s11864-004-0022-6. PMID: 15233908

See all (40)

Prognosis

Multiple endocrine neoplasia type 2: A review.

Age and MEN2 outcome.

Castinetti F
Aging (Albany NY) 2019 Jun 12;11(11):3416-3417. doi: 10.18632/aging.102030. PMID: 31188782 Free PMC Article

Patient quality of life and prognosis in multiple endocrine neoplasia type 2.

Grey J, Winter K
Endocr Relat Cancer 2018 Feb;25(2):T69-T77. Epub 2017 Oct 24 doi: 10.1530/ERC-17-0335. PMID: 29066504

Temporal paragangliomas.

Suárez C, Sevilla MA, Llorente JL
Eur Arch Otorhinolaryngol 2007 Jul;264(7):719-31. Epub 2007 Mar 2 doi: 10.1007/s00405-007-0267-3. PMID: 17333230

Phaeochromocytoma.

Lenders JW, Eisenhofer G, Mannelli M, Pacak K
Lancet 2005 Aug 20-26;366(9486):665-75. doi: 10.1016/S0140-6736(05)67139-5. PMID: 16112304

See all (129)

Clinical prediction guides

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Li SY, Ding YQ, Si YL, Ye MJ, Xu CM, Qi XP
Front Endocrinol (Lausanne) 2020;11:543246. Epub 2020 Sep 18 doi: 10.3389/fendo.2020.543246. PMID: 33071967 Free PMC Article

Pathology and genetics of phaeochromocytoma and paraganglioma.

Turchini J, Cheung VKY, Tischler AS, De Krijger RR, Gill AJ
Histopathology 2018 Jan;72(1):97-105. doi: 10.1111/his.13402. PMID: 29239044

Patient quality of life and prognosis in multiple endocrine neoplasia type 2.

Grey J, Winter K
Endocr Relat Cancer 2018 Feb;25(2):T69-T77. Epub 2017 Oct 24 doi: 10.1530/ERC-17-0335. PMID: 29066504

Pheochromocytomas in Multiple Endocrine Neoplasia Type 2.

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

Multiple endocrine neoplasia type 2.

Lodish M
Front Horm Res 2013;41:16-29. Epub 2013 Mar 19 doi: 10.1159/000345667. PMID: 23652668

See all (120)