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Medullary thyroid carcinoma(MTC)

MedGen UID:
66772
Concept ID:
C0238462
Neoplastic Process
Synonyms: Medullary thyroid gland carcinoma; MTC
SNOMED CT: Ultimobranchial thyroid tumor (128916007); Parafollicular cell carcinoma (128916007); C cell carcinoma (128916007); Parafollicular cell carcinoma (789004008); Medullary thyroid carcinoma (255032005); Medullary carcinoma of thyroid (255032005); MTC - Medullary thyroid carcinoma (255032005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0002865
Monarch Initiative: MONDO:0015277
Orphanet: ORPHA1332

Definition

The presence of a medullary carcinoma of the thyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Medullary thyroid carcinoma in Orphanet.

Conditions with this feature

Multiple endocrine neoplasia, type 2a
MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, 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 in 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.
Multiple endocrine neoplasia, type 2b
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, 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 in 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.
Familial medullary thyroid carcinoma
MedGen UID:
322311
Concept ID:
C1833921
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, 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 in 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.

Professional guidelines

PubMed

Kim M, Kim BH
Endocrinol Metab (Seoul) 2021 Jun;36(3):514-524. Epub 2021 Jun 22 doi: 10.3803/EnM.2021.1082. PMID: 34154310Free PMC Article
Araque KA, Gubbi S, Klubo-Gwiezdzinska J
Horm Metab Res 2020 Aug;52(8):562-577. Epub 2020 Feb 10 doi: 10.1055/a-1089-7870. PMID: 32040962Free 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

Curated

UK NICE Guideline NG230, Thyroid cancer: assessment and management

Recent clinical studies

Etiology

Angelousi A, Hayes AR, Chatzellis E, Kaltsas GA, Grossman AB
Endocr Relat Cancer 2022 May 31;29(7):R85-R103. doi: 10.1530/ERC-21-0368. PMID: 35521769Free PMC Article
Nikas IP, Kazamias G, Vrontaki M, Rapti AS, Mastorakis E
J Immunoassay Immunochem 2022 Sep 3;43(5):502-515. Epub 2022 Apr 27 doi: 10.1080/15321819.2022.2070025. PMID: 35475413
Zhou TH, Zhao LQ, Zhang Y, Wu F, Lu KN, Mao LL, Jiang KC, Luo DC
Front Endocrinol (Lausanne) 2021;12:741289. Epub 2021 Nov 17 doi: 10.3389/fendo.2021.741289. PMID: 34867784Free PMC Article
Kim M, Kim BH
Endocrinol Metab (Seoul) 2021 Jun;36(3):514-524. Epub 2021 Jun 22 doi: 10.3803/EnM.2021.1082. PMID: 34154310Free PMC Article
Griebeler ML, Gharib H, Thompson GB
Endocr Pract 2013 Jul-Aug;19(4):703-11. doi: 10.4158/EP12430.RA. PMID: 23512389

Diagnosis

Zhou TH, Zhao LQ, Zhang Y, Wu F, Lu KN, Mao LL, Jiang KC, Luo DC
Front Endocrinol (Lausanne) 2021;12:741289. Epub 2021 Nov 17 doi: 10.3389/fendo.2021.741289. PMID: 34867784Free PMC Article
Giovanella L, Garo ML, Ceriani L, Paone G, Campenni' A, D'Aurizio F
J Clin Endocrinol Metab 2021 Nov 19;106(12):3634-3643. doi: 10.1210/clinem/dgab564. PMID: 34382653
Kim M, Kim BH
Endocrinol Metab (Seoul) 2021 Jun;36(3):514-524. Epub 2021 Jun 22 doi: 10.3803/EnM.2021.1082. PMID: 34154310Free PMC Article
Thomas CM, Asa SL, Ezzat S, Sawka AM, Goldstein D
Curr Oncol 2019 Oct;26(5):338-344. Epub 2019 Oct 1 doi: 10.3747/co.26.5539. PMID: 31708652Free 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

Therapy

Haddad RI, Bischoff L, Ball D, Bernet V, Blomain E, Busaidy NL, Campbell M, Dickson P, Duh QY, Ehya H, Goldner WS, Guo T, Haymart M, Holt S, Hunt JP, Iagaru A, Kandeel F, Lamonica DM, Mandel S, Markovina S, McIver B, Raeburn CD, Rezaee R, Ridge JA, Roth MY, Scheri RP, Shah JP, Sipos JA, Sippel R, Sturgeon C, Wang TN, Wirth LJ, Wong RJ, Yeh M, Cassara CJ, Darlow S
J Natl Compr Canc Netw 2022 Aug;20(8):925-951. doi: 10.6004/jnccn.2022.0040. PMID: 35948029
Kim M, Kim BH
Endocrinol Metab (Seoul) 2021 Jun;36(3):514-524. Epub 2021 Jun 22 doi: 10.3803/EnM.2021.1082. PMID: 34154310Free PMC Article
Araque KA, Gubbi S, Klubo-Gwiezdzinska J
Horm Metab Res 2020 Aug;52(8):562-577. Epub 2020 Feb 10 doi: 10.1055/a-1089-7870. PMID: 32040962Free PMC Article
Shen G, Zheng F, Ren D, Du F, Dong Q, Wang Z, Zhao F, Ahmad R, Zhao J
J Hematol Oncol 2018 Sep 19;11(1):120. doi: 10.1186/s13045-018-0664-7. PMID: 30231931Free 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

Prognosis

Zhou TH, Zhao LQ, Zhang Y, Wu F, Lu KN, Mao LL, Jiang KC, Luo DC
Front Endocrinol (Lausanne) 2021;12:741289. Epub 2021 Nov 17 doi: 10.3389/fendo.2021.741289. PMID: 34867784Free PMC Article
Giovanella L, Garo ML, Ceriani L, Paone G, Campenni' A, D'Aurizio F
J Clin Endocrinol Metab 2021 Nov 19;106(12):3634-3643. doi: 10.1210/clinem/dgab564. PMID: 34382653
Castinetti F
Aging (Albany NY) 2019 Jun 12;11(11):3416-3417. doi: 10.18632/aging.102030. PMID: 31188782Free PMC Article
Holman RR, Bethel MA, Mentz RJ, Thompson VP, Lokhnygina Y, Buse JB, Chan JC, Choi J, Gustavson SM, Iqbal N, Maggioni AP, Marso SP, Öhman P, Pagidipati NJ, Poulter N, Ramachandran A, Zinman B, Hernandez AF; EXSCEL Study Group
N Engl J Med 2017 Sep 28;377(13):1228-1239. Epub 2017 Sep 14 doi: 10.1056/NEJMoa1612917. PMID: 28910237Free PMC Article
Weber T, Schilling T, Büchler MW
Curr Opin Oncol 2006 Jan;18(1):30-5. doi: 10.1097/01.cco.0000198975.36368.d3. PMID: 16357561

Clinical prediction guides

Xu B, Fuchs TL, Ahmadi S, Alghamdi M, Alzumaili B, Bani MA, Baudin E, Chou A, De Leo A, Fagin JA, Ganly I, Glover A, Hartl D, Kanaan C, Khneisser P, Najdawi F, Nigam A, Papachristos A, Repaci A, Spanheimer PM, Solaroli E, Untch BR, Barletta JA, Tallini G, Al Ghuzlan A, Gill AJ, Ghossein RA
J Clin Oncol 2022 Jan 1;40(1):96-104. Epub 2021 Nov 3 doi: 10.1200/JCO.21.01329. PMID: 34731032Free PMC Article
Zhou TH, Zhao LQ, Zhang Y, Wu F, Lu KN, Mao LL, Jiang KC, Luo DC
Front Endocrinol (Lausanne) 2021;12:741289. Epub 2021 Nov 17 doi: 10.3389/fendo.2021.741289. PMID: 34867784Free PMC Article
Giovanella L, Garo ML, Ceriani L, Paone G, Campenni' A, D'Aurizio F
J Clin Endocrinol Metab 2021 Nov 19;106(12):3634-3643. doi: 10.1210/clinem/dgab564. PMID: 34382653
Leimbach RD, Hoang TD, Shakir MKM
Oncology 2021;99(7):422-432. Epub 2021 Apr 20 doi: 10.1159/000515373. PMID: 33878761
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

Recent systematic reviews

Ferrarazzo G, Camponovo C, Deandrea M, Piccardo A, Scappaticcio L, Trimboli P
Clin Endocrinol (Oxf) 2022 Nov;97(5):532-540. Epub 2022 Apr 22 doi: 10.1111/cen.14739. PMID: 35419855Free PMC Article
Zarkesh M, Arab N, Tavangar SM, Nozhat Z, Fanaei SM, Hedayati M
Pathol Res Pract 2022 Jan;229:153694. Epub 2021 Nov 24 doi: 10.1016/j.prp.2021.153694. PMID: 34929598
Trimboli P, Guidobaldi L, Bongiovanni M, Crescenzi A, Alevizaki M, Giovanella L
Diagn Cytopathol 2016 Jan;44(1):45-51. Epub 2015 Oct 19 doi: 10.1002/dc.23375. PMID: 26481456
Trimboli P, Seregni E, Treglia G, Alevizaki M, Giovanella L
Endocr Relat Cancer 2015 Jun;22(3):R157-64. Epub 2015 May 1 doi: 10.1530/ERC-15-0156. PMID: 25934688
Trimboli P, Giovanella L
Clin Chem Lab Med 2015 Sep 1;53(10):1507-14. doi: 10.1515/cclm-2015-0058. PMID: 25781697

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.
    • Bookshelf
      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

    • NICE, 2022
      UK NICE Guideline NG230, Thyroid cancer: assessment and management

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