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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): 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]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Charis Eng  |  Gilman Plitt   view full author information

Professional guidelines

PubMed

Management of Type 2 Diabetes Mellitus With Noninsulin Pharmacotherapy.
Vaughan EM, Santiago-Delgado ZM
Am Fam Physician 2024 Apr;109(4):333-342. PMID: 38648832
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: 35822284Free PMC Article
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: 22584709Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023

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
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Medullary thyroid carcinoma.
Pacini F, Castagna MG, Cipri C, Schlumberger M
Clin Oncol (R Coll Radiol) 2010 Aug;22(6):475-85. doi: 10.1016/j.clon.2010.05.002. PMID: 20627492
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
Pheochromocytoma.
Pederson LC, Lee JE
Curr Treat Options Oncol 2003 Aug;4(4):329-37. doi: 10.1007/s11864-003-0008-9. PMID: 12943613

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: 35822284Free PMC Article
Age and MEN2 outcome.
Castinetti F
Aging (Albany NY) 2019 Jun 12;11(11):3416-3417. doi: 10.18632/aging.102030. PMID: 31188782Free 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.
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

Therapy

Management of Type 2 Diabetes Mellitus With Noninsulin Pharmacotherapy.
Vaughan EM, Santiago-Delgado ZM
Am Fam Physician 2024 Apr;109(4):333-342. PMID: 38648832
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
Multiple endocrine neoplasia type 2.
Lodish M
Front Horm Res 2013;41:16-29. Epub 2013 Mar 19 doi: 10.1159/000345667. PMID: 23652668
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

Prognosis

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
Age and MEN2 outcome.
Castinetti F
Aging (Albany NY) 2019 Jun 12;11(11):3416-3417. doi: 10.18632/aging.102030. PMID: 31188782Free 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
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
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

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: 33071967Free 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
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387

Recent systematic reviews

Risk-reduction surgery in pediatric surgical oncology: A perspective.
Sandoval JA, Fernandez-Pineda I, Malkan AD
J Pediatr Surg 2016 Apr;51(4):675-87. Epub 2016 Feb 3 doi: 10.1016/j.jpedsurg.2016.01.004. PMID: 26898681
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023

    Reviews

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