Entry

H01592                      Disease

Name

Medullary thyroid cancer

Description

Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead to substrate-independent dimerization of the receptor causing constitutive activation, unrestricted signaling, and ultimately, cancer.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of endocrine organs
   H01592  Medullary thyroid cancer
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of endocrine glands
     2D10  Malignant neoplasms of thyroid gland
      H01592  Medullary thyroid cancer
Tumor markers [br08442.html]
H01592

Gene

RET [HSA:5979] [KO:K05126]
HRAS [HSA:3265] [KO:K02833]
KRAS [HSA:3845] [KO:K07827]

Drug

Vandetanib [DR:D06407]
Cabozantinib s-malate [DR:D10095]
Selpercatinib [DR:D11713] (RET mutant)
Pralsetinib [DR:D11712] (RET mutant)

Other DBs

ICD-11:

2D10.4

ICD-10:

C73

MeSH:

C536914

Reference

PMID:25972318

Authors

Chernock RD, Hagemann IS

Title

Molecular pathology of hereditary and sporadic medullary thyroid carcinomas.

Journal

Am J Clin Pathol 143:768-77 (2015)
DOI:10.1309/AJCPHWACTTUYJ7DD

Reference

PMID:24316908

Authors

Pusztaszeri MP, Bongiovanni M, Faquin WC

Title

Update on the cytologic and molecular features of medullary thyroid carcinoma.

Journal

Adv Anat Pathol 21:26-35 (2014)
DOI:10.1097/PAP.0000000000000004

Reference

PMID:23955938

Authors

Trimboli P, Giovanella L, Crescenzi A, Romanelli F, Valabrega S, Spriano G, Cremonini N, Guglielmi R, Papini E

Title

Medullary thyroid cancer diagnosis: an appraisal.

Journal

Head Neck 36:1216-23 (2014)
DOI:10.1002/hed.23449

Reference

PMID:26494384

Authors

Raue F, Frank-Raue K

Title

Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.

Journal

Recent Results Cancer Res 204:61-90 (2015)
DOI:10.1007/978-3-319-22542-5_3

Reference

PMID:24942936

Authors

Maxwell JE, Sherman SK, O'Dorisio TM, Howe JR

Title

Medical management of metastatic medullary thyroid cancer.

Journal

Cancer 120:3287-301 (2014)
DOI:10.1002/cncr.28858

DISEASE: Medullary thyroid cancer