Art

J-GLOBAL ID：201802248768697744   Reference number：18A1605033

知っておこう!遺伝性消化器疾患 家族性GIST

Author (4)： KIHARA TAKAKO (兵庫医大 病理診断科) ,  YUAN Jiayin (兵庫医大 病理診断科) ,  KIMURA NEINEI (兵庫医大 病理診断科) ,  HIROTA SEIICHI (兵庫医大 病理診断科)
Material： 消化器内視鏡  (Endoscopia Digestiva)
Volume： 30  Issue： 8  Page： 1052-1057  Publication year： Aug. 25, 2018 
JST Material Number： L2208A  ISSN： 0915-3217  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *digestive system tumor ,...
Semi thesaurus term： Cajal mediating cell ,...

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JST classification (3)： Tumors(=neoplasms)of digestive system  (GH04000D) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Clinical oncology in general  (GE03010Y)

Substance index (1)： Imatinib

Reference (9)：

• Hirota S, Isozaki K, Moriyama Y et al : Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 273 : 577-580, 1998
• Heinrich MC, Corless CL, Duensing A et al : PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299 : 708-710, 2003
• Hirota S, Ohashi A, Nishida T et al : Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 125 : 660-667, 2003
• Pasini B, McWhinney SR, Bei T et al : Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Human Genet 16 : 79-88, 2008
• Agaimy A, Terracciano LM, Dirnhofer S et al : V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin Pathol 62 : 613-616, 2009

Terms in the title (4)： 遺伝 ,  消化器疾患 ,  家族 ,  GIST