| H01592 | |
| H番号 | H01592 |
| 名称 | 甲状腺髄様癌 |
| 概要 | 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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | RET [HSA:5979] [KO:K05126] HRAS [HSA:3265] [KO:K02833] KRAS [HSA:3845] [KO:K07827] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | バンデタニブ [DR:D06407] セルペルカチニブ [DR:D11713] (RET融合遺伝子陽性) |
| コメント | - |
| リンク | ICD-11: 2D10.4 ICD-10: C73 MeSH: C536914 |
| 文献 | PMID:25972318 著者 Chernock RD, Hagemann IS タイトル Molecular pathology of hereditary and sporadic medullary thyroid carcinomas. 雑誌 Am J Clin Pathol 143:768-77 (2015) DOI:10.1309/AJCPHWACTTUYJ7DD PMID:24316908 著者 Pusztaszeri MP, Bongiovanni M, Faquin WC タイトル Update on the cytologic and molecular features of medullary thyroid carcinoma. 雑誌 Adv Anat Pathol 21:26-35 (2014) DOI:10.1097/PAP.0000000000000004 PMID:23955938 著者 Trimboli P, Giovanella L, Crescenzi A, Romanelli F, Valabrega S, Spriano G, Cremonini N, Guglielmi R, Papini E タイトル Medullary thyroid cancer diagnosis: an appraisal. 雑誌 Head Neck 36:1216-23 (2014) DOI:10.1002/hed.23449 PMID:26494384 著者 Raue F, Frank-Raue K タイトル Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma. 雑誌 Recent Results Cancer Res 204:61-90 (2015) DOI:10.1007/978-3-319-22542-5_3 PMID:24942936 著者 Maxwell JE, Sherman SK, O'Dorisio TM, Howe JR タイトル Medical management of metastatic medullary thyroid cancer. 雑誌 Cancer 120:3287-301 (2014) DOI:10.1002/cncr.28858 |