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KEGG   DISEASE: 甲状腺髄様癌
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    内分泌腺の悪性腫瘍
     2D10  甲状腺の悪性腫瘍
      H01592  甲状腺髄様癌
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06526  MAPK シグナリング
   H01592  甲状腺髄様癌
パスウェイ 
hsa04010  MAPK signaling pathway
ネットワーク
nt06526 MAPK signaling
病因遺伝子 
RET [HSA:5979] [KO:K05126]
HRAS [HSA:3265] [KO:K02833]
KRAS [HSA:3845] [KO:K07827]
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)
リンク   
ICD-11: 2D10.4
MeSH: C536914 C536911
OMIM: 155240
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  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
文献    
  著者
Pigny P, Bauters C, Wemeau JL, Houcke ML, Crepin M, Caron P, Giraud S, Calender A, Buisine MP, Kerckaert JP, Porchet N
  タイトル
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
  雑誌
J Clin Endocrinol Metab 84:1700-4 (1999)
DOI:10.1210/jcem.84.5.5665
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