KEGG   DISEASE: Medullary thyroid cancerHelp
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-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  C73-C75  Malignant neoplasms of thyroid and other endocrine glands
   C73  Malignant neoplasm of thyroid gland
    H01592  Medullary thyroid cancer
Tumor markers [br08442.html]
 H01592
BRITE hierarchy
Gene
RET [HSA:5979] [KO:K05126]
HRAS [HSA:3265] [KO:K02833]
KRAS [HSA:3845] [KO:K07827]
Marker
Calcitonin [CPD:C06865]
Drug
Vandetanib [DR:D06407]
Cabozantinib [DR:D10095]
Comment
ICD-O-3:8345/3 Medullary carcinoma with amyloid stroma
Other DBs
ICD-10: 
MeSH: 
Reference
PMID:25972318 (gene, drug)
  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 (gene)
  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
  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
  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 (gene, drug)
  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
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