| H01592 | |
| H number | H01592 |
| 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 |
| Network | - |
| Gene | RET [HSA:5979] [KO:K05126] HRAS [HSA:3265] [KO:K02833] KRAS [HSA:3845] [KO:K07827] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Vandetanib [DR:D06407] Cabozantinib s-malate [DR:D10095] Selpercatinib [DR:D11713] (RET mutant) Pralsetinib [DR:D11712] (RET mutant) |
| Comment | - |
| 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 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 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 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 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 |