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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

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
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

Guda BB, Komisarenko II, Ostafiichuk MV, Tronko MD
Exp Oncol 2023 Jun 26;45(1):70-78. doi: 10.15407/exp-oncology.2023.01.070. PMID: 37417280
Ramone T, Romei C, Ciampi R, Casalini R, Valetto A, Bertini V, Raimondi F, Onoja A, Prete A, Matrone A, Gambale C, Piaggi P, Torregrossa L, Ugolini C, Elisei R
Endocr Relat Cancer 2023 Sep 1;30(9) Epub 2023 Aug 2 doi: 10.1530/ERC-22-0251. PMID: 37343157
Contarino A, Dolci A, Maggioni M, Porta FM, Lopez G, Verga U, Elli FM, Iofrida EF, Cantoni G, Mantovani G, Arosio M
Front Endocrinol (Lausanne) 2022;13:866572. Epub 2022 Apr 27 doi: 10.3389/fendo.2022.866572. PMID: 35574005Free 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
Lee SM, Policarpio-Nicolas ML
Arch Pathol Lab Med 2015 Aug;139(8):1062-7. doi: 10.5858/arpa.2013-0703-RS. PMID: 26230601

Diagnosis

Pelizzo MR, Mazza EI, Mian C, Merante Boschin I
Expert Rev Anticancer Ther 2023 Jul-Dec;23(9):943-957. Epub 2023 Aug 30 doi: 10.1080/14737140.2023.2247566. PMID: 37646181
Contarino A, Dolci A, Maggioni M, Porta FM, Lopez G, Verga U, Elli FM, Iofrida EF, Cantoni G, Mantovani G, Arosio M
Front Endocrinol (Lausanne) 2022;13:866572. Epub 2022 Apr 27 doi: 10.3389/fendo.2022.866572. PMID: 35574005Free 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
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
Fortunati E, Argalia G, Zanoni L, Fanti S, Ambrosini V
Curr Treat Options Oncol 2022 May;23(5):703-720. Epub 2022 Mar 24 doi: 10.1007/s11864-022-00967-z. PMID: 35325412Free 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
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

Prognosis

Contarino A, Dolci A, Maggioni M, Porta FM, Lopez G, Verga U, Elli FM, Iofrida EF, Cantoni G, Mantovani G, Arosio M
Front Endocrinol (Lausanne) 2022;13:866572. Epub 2022 Apr 27 doi: 10.3389/fendo.2022.866572. PMID: 35574005Free 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
Delorme S, Raue F
Recent Results Cancer Res 2015;204:91-116. doi: 10.1007/978-3-319-22542-5_4. PMID: 26494385
Gimm O
Cancer Lett 2001 Feb 26;163(2):143-56. doi: 10.1016/s0304-3835(00)00697-2. PMID: 11165748
Dunn JM, Farndon JR
Br J Surg 1993 Jan;80(1):6-9. doi: 10.1002/bjs.1800800105. PMID: 8428296

Clinical prediction guides

Pelizzo MR, Mazza EI, Mian C, Merante Boschin I
Expert Rev Anticancer Ther 2023 Jul-Dec;23(9):943-957. Epub 2023 Aug 30 doi: 10.1080/14737140.2023.2247566. PMID: 37646181
Contarino A, Dolci A, Maggioni M, Porta FM, Lopez G, Verga U, Elli FM, Iofrida EF, Cantoni G, Mantovani G, Arosio M
Front Endocrinol (Lausanne) 2022;13:866572. Epub 2022 Apr 27 doi: 10.3389/fendo.2022.866572. PMID: 35574005Free PMC Article
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
Leimbach RD, Hoang TD, Shakir MKM
Oncology 2021;99(7):422-432. Epub 2021 Apr 20 doi: 10.1159/000515373. PMID: 33878761
Delorme S, Raue F
Recent Results Cancer Res 2015;204:91-116. doi: 10.1007/978-3-319-22542-5_4. PMID: 26494385

Recent systematic reviews

Piticchio T, Frasca F, Trimboli P
Rev Endocr Metab Disord 2023 Aug;24(4):685-694. Epub 2023 May 31 doi: 10.1007/s11154-023-09811-7. PMID: 37254023Free PMC Article
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
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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