期刊论文详细信息
Surgical and Experimental Pathology
KIT exon 11 and PDGFRA exon 18 gene mutations in gastric GIST: proposal of a short panel for predicting therapeutic response
ia Neves Comodo1  Denise Barcelos1  Mariana Fernandes1  Leonardo Cardili3  André3  Edna Sadayo Miazato Iwamura3  Fernando Cintra Lopes Carapeto4  Karina Funabashi4  Ricardo Artigiani Neto4 
[1] Department of Pathology, Universidade Federal de SãUniversity of Texas MD Anderson Cancer Center, Pathology, Houston, USA;o Paulo, Brazil;o Paulo/UNIFESP, Sã
关键词: Exon 11 KIT gene;    Exon 18 PDGFRA gene;    FFPE;    Gastric GIST;    Therapeutic response;   
DOI  :  10.1186/s42047-018-0021-8
学科分类:生理学与病理学
来源: Springer
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【 摘 要 】

GIST is the most common mesenchymal tumor of gastrointestinal tract and is more frequent in stomach. Its main mutations affect KIT and PDGFRA genes. Full genetic analysis panels are currently used to study mutations in GIST and other tumors. Considering that in gastric GIST KIT gene mutations in exon 11 are sensitive to IM whereas PDGFRΑ gene mutations in exon 18 (D842V) are resistant to the same drug, the aim of this study is to focus on these two molecular targets as a short alternative panel for predicting therapeutic response in gastric GIST which might optimize resources. The genotypes of 38 cases of primary GIST were determined by performing bidirectional DNA sequencing. Exon 11 of KIT gene showed mutations in 65.3% and the exon 18 of PDGFRA gene showed 9% of cases. So it was possible to determine a subgroup of tumors which presented mutations in KIT exon 11 and PDGFRA exon 18. Considering all of the foregoing analyzed globally, the application of short panel has impact on the cost and time of release of results to the physician, allowing a rapid approach to patients eligible for treatment with the target therapy.

【 授权许可】

CC BY   

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