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Multiple endocrine neoplasia

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
Synonyms: Adenomatoses, Familial Endocrine; Adenomatoses, Multiple Endocrine; Adenomatosis, Familial Endocrine; Adenomatosis, Multiple Endocrine; Adenopathies, Multiple Endocrine; Adenopathy, Multiple Endocrine; Endocrine Adenomatoses, Familial; Endocrine Adenomatoses, Multiple; Endocrine Adenomatosis, Familial; Endocrine Adenomatosis, Multiple; Endocrine Adenopathies, Multiple; Endocrine Adenopathy, Multiple; Endocrine Neoplasia, Multiple; Endocrine Neoplasms, Multiple; Familial Endocrine Adenomatoses; Familial Endocrine Adenomatosis; Multiple Endocrine Adenomatoses; Multiple Endocrine Adenomatosis; Multiple Endocrine Adenopathies; Multiple Endocrine Adenopathy; Multiple Endocrine Neoplasia; Multiple Endocrine Neoplasia Syndromes; Multiple Endocrine Neoplasms; Neoplasia, Multiple Endocrine; Neoplasms, Multiple Endocrine
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Multiple endocrine adenomas (60549007); Endocrine adenomatosis (60549007); MEN - Multiple endocrine neoplasia (46724008); Multiple endocrine tumasia (46724008); MEA - Multiple endocrine adenomatosis (46724008); Familial polyendocrine adenomatosis (46724008); Multiple endocrine neoplasia (46724008)
 
OMIM® Phenotypic series: PS131100
Orphanet: ORPHA276161

Definition

A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively. [from MeSH]

Recent clinical studies

Etiology

Singh Ospina N, Donegan D, Rodriguez-Gutierrez R, Al-Hilli Z, Young WF Jr
Am J Med 2017 May;130(5):603-605. Epub 2016 Dec 21 doi: 10.1016/j.amjmed.2016.11.035. PMID: 28011308
Grajo JR, Paspulati RM, Sahani DV, Kambadakone A
Radiol Clin North Am 2016 May;54(3):441-51. Epub 2016 Mar 10 doi: 10.1016/j.rcl.2015.12.001. PMID: 27153782
Clark P
J Infus Nurs 2015 Nov-Dec;38 Suppl 6:S36-42. doi: 10.1097/NAN.0000000000000143. PMID: 26536410
Thakker RV
Mol Cell Endocrinol 2014 Apr 5;386(1-2):2-15. Epub 2013 Aug 8 doi: 10.1016/j.mce.2013.08.002. PMID: 23933118Free PMC Article
Pasquali D, Di Matteo FM, Renzullo A, Accardo G, Esposito D, Barbato F, Colantuoni V, Circelli L, Conzo G
G Chir 2012 Nov-Dec;33(11-12):370-3. PMID: 23140918

Diagnosis

Singh Ospina N, Donegan D, Rodriguez-Gutierrez R, Al-Hilli Z, Young WF Jr
Am J Med 2017 May;130(5):603-605. Epub 2016 Dec 21 doi: 10.1016/j.amjmed.2016.11.035. PMID: 28011308
Grajo JR, Paspulati RM, Sahani DV, Kambadakone A
Radiol Clin North Am 2016 May;54(3):441-51. Epub 2016 Mar 10 doi: 10.1016/j.rcl.2015.12.001. PMID: 27153782
Clark P
J Infus Nurs 2015 Nov-Dec;38 Suppl 6:S36-42. doi: 10.1097/NAN.0000000000000143. PMID: 26536410
Thakker RV
Mol Cell Endocrinol 2014 Apr 5;386(1-2):2-15. Epub 2013 Aug 8 doi: 10.1016/j.mce.2013.08.002. PMID: 23933118Free PMC Article
Pasquali D, Di Matteo FM, Renzullo A, Accardo G, Esposito D, Barbato F, Colantuoni V, Circelli L, Conzo G
G Chir 2012 Nov-Dec;33(11-12):370-3. PMID: 23140918

Therapy

Singh Ospina N, Donegan D, Rodriguez-Gutierrez R, Al-Hilli Z, Young WF Jr
Am J Med 2017 May;130(5):603-605. Epub 2016 Dec 21 doi: 10.1016/j.amjmed.2016.11.035. PMID: 28011308
Maia MC, Muniz Lourenço D Jr, Riechelmann R
Oncol Res Treat 2016;39(10):643-645. Epub 2016 Sep 12 doi: 10.1159/000448699. PMID: 27710978
Pan Y, Lv J, Guo R, Pan M, Zhang Y
Clin Nucl Med 2016 Jun;41(6):497-9. doi: 10.1097/RLU.0000000000001144. PMID: 26828146
Giusti F, Cianferotti L, Gronchi G, Cioppi F, Masi L, Faggiano A, Colao A, Ferolla P, Brandi ML
Endocrine 2016 Jun;52(3):495-506. Epub 2015 Jul 30 doi: 10.1007/s12020-015-0696-5. PMID: 26224587
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

Prognosis

Silva AM, Vodopivec D, Christakis I, Lyons G, Wei Q, Waguespack SG, Petak SM, Grubbs E, Lee JE, Perrier N
Surgery 2017 Jan;161(1):107-115. Epub 2016 Nov 11 doi: 10.1016/j.surg.2016.06.065. PMID: 27842919
Gurung B, Hua X, Runske M, Bennett B, LiVolsi V, Roses R, Fraker DA, Metz DC
Cancer Biol Ther 2015;16(2):219-24. doi: 10.4161/15384047.2014.987574. PMID: 25482929Free PMC Article
Mejía-Castrejón J, Landa-Ramírez E
BMJ Case Rep 2014 Jun 4;2014 doi: 10.1136/bcr-2013-202242. PMID: 24898996Free PMC Article
Pasquali D, Di Matteo FM, Renzullo A, Accardo G, Esposito D, Barbato F, Colantuoni V, Circelli L, Conzo G
G Chir 2012 Nov-Dec;33(11-12):370-3. PMID: 23140918
Collins JM, Chaudhry SI, Gill DS, Porter SR
J Am Dent Assoc 2012 Oct;143(10):1093-8. PMID: 23024306

Clinical prediction guides

Silva AM, Vodopivec D, Christakis I, Lyons G, Wei Q, Waguespack SG, Petak SM, Grubbs E, Lee JE, Perrier N
Surgery 2017 Jan;161(1):107-115. Epub 2016 Nov 11 doi: 10.1016/j.surg.2016.06.065. PMID: 27842919
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
Sharma P, Mukherjee A, Karunanithi S, Naswa N, Kumar R, Ammini AC, Bal C
Clin Nucl Med 2015 Jul;40(7):e351-6. doi: 10.1097/RLU.0000000000000775. PMID: 25783509
Gurung B, Hua X, Runske M, Bennett B, LiVolsi V, Roses R, Fraker DA, Metz DC
Cancer Biol Ther 2015;16(2):219-24. doi: 10.4161/15384047.2014.987574. PMID: 25482929Free PMC Article
Castinetti F, Qi XP, Walz MK, Maia AL, Sansó G, Peczkowska M, Hasse-Lazar K, Links TP, Dvorakova S, Toledo RA, Mian C, Bugalho MJ, Wohllk N, Kollyukh O, Canu L, Loli P, Bergmann SR, Biarnes Costa J, Makay O, Patocs A, Pfeifer M, Shah NS, Cuny T, Brauckhoff M, Bausch B, von Dobschuetz E, Letizia C, Barczynski M, Alevizaki MK, Czetwertynska M, Ugurlu MU, Valk G, Plukker JT, Sartorato P, Siqueira DR, Barontini M, Szperl M, Jarzab B, Verbeek HH, Zelinka T, Vlcek P, Toledo SP, Coutinho FL, Mannelli M, Recasens M, Demarquet L, Petramala L, Yaremchuk S, Zabolotnyi D, Schiavi F, Opocher G, Racz K, Januszewicz A, Weryha G, Henry JF, Brue T, Conte-Devolx B, Eng C, Neumann HP
Lancet Oncol 2014 May;15(6):648-55. Epub 2014 Apr 15 doi: 10.1016/S1470-2045(14)70154-8. PMID: 24745698

Recent systematic reviews

Grajo JR, Paspulati RM, Sahani DV, Kambadakone A
Radiol Clin North Am 2016 May;54(3):441-51. Epub 2016 Mar 10 doi: 10.1016/j.rcl.2015.12.001. PMID: 27153782
Krampitz GW, Norton JA
Cancer 2014 Jul 1;120(13):1920-31. Epub 2014 Apr 3 doi: 10.1002/cncr.28661. PMID: 24699901
Wells SA Jr, Pacini F, Robinson BG, Santoro M
J Clin Endocrinol Metab 2013 Aug;98(8):3149-64. Epub 2013 Jun 6 doi: 10.1210/jc.2013-1204. PMID: 23744408Free PMC Article
Lee M, Pellegata NS
Front Horm Res 2013;41:63-78. Epub 2013 Mar 19 doi: 10.1159/000345670. PMID: 23652671
Lourenço DM Jr, Coutinho FL, Toledo RA, Gonçalves TD, Montenegro FL, Toledo SP
Clinics (Sao Paulo) 2012;67 Suppl 1:99-108. PMID: 22584713Free PMC Article

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