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[1]眭玉霞,秦曉英,陳靈鋒,等.胃腸道間質(zhì)瘤靶向藥物治療相關基因突變臨床分析[J].福建醫(yī)藥雜志,2022,44(05):14-17.
　SUI Yuxia,QIN Xiaoying,CHEN Lingfeng,et al.Analysis of gene mutation in gastrointestinal stromal tumors and its relationship with clinical features[J].FUJIAN MEDICAL JOURNAL,2022,44(05):14-17.
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胃腸道間質(zhì)瘤靶向藥物治療相關基因突變臨床分析()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
44
期數(shù):
2022年05期
頁碼:
14-17
欄目:
臨床研究
出版日期:
2022-10-15

文章信息/Info

Title:
Analysis of gene mutation in gastrointestinal stromal tumors and its relationship with clinical features
文章編號:
1002-2600（2022）05-0014-04
作者:
眭玉霞; 秦曉英1; 陳靈鋒1; 莊敏2
福建醫(yī)科大學省立臨床醫(yī)學院 福建省立醫(yī)院藥學部（福州 350001）
Author(s):
SUI Yuxia; QIN Xiaoying; CHEN Lingfeng; ZHUANG Min
Department of Pharmacy, Fujian Provincial Hospital, Provincial Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350001, China
關鍵詞:
胃腸道間質(zhì)瘤; C-KIT基因; PDGFRA基因; 靶向治療
Keywords:
gastrointestinal stromal tumors;  C-KIT gene;  PDGFRA gene; targeted therapy
分類號:
R735.3
文獻標志碼:
A
摘要:
目的 探討靶向藥物治療相關基因（C-KIT和PDGFRA）在治療胃腸道間質(zhì)瘤中的作用。 方法 收集福建省立醫(yī)院確診的胃腸道間質(zhì)瘤240例，采用Sanger測序法檢測基因突變情況（C-KIT基因9、11、13、17、18號外顯子，PDGFRA基因12、18號外顯子），分析其與臨床特征的關系。 結(jié)果 1）C-KIT基因突變率為79.2%，其11、9及13號外顯子的突變率分別為80.5%、10%、4.2%，11號外顯子以缺失突變及點突變多見。2）PDGFRA基因突變率為6.7%，其18號外顯子突變率93.75%，D842V點突變多見。3）C-KIT基因11號外顯子突變在胃部發(fā)生率高，以中高危級別多見，組織學以梭形細胞型多見。PDGFRA基因18號外顯子突變在胃部發(fā)生率高，以極低危、低危級別多見，組織學以上皮細胞型為主。 結(jié)論 胃腸道間質(zhì)瘤患者發(fā)生C-KIT/PDGFRA基因突變的頻率很高，突變位點及形式多樣，建議臨床治療前進行C-KIT/PDGFRA基因聯(lián)合檢測，為靶向藥物治療提供依據(jù)。
Abstract:
Objective To explore the role of targeted drug therapy-related genes (C-KIT and PDGFRA) in the treatment of gastrointestinal stromal tumors. Methods A total of 240 cases of gastrointestinal stromal tumors diagnosed in Fujian Provincial Hospital were collected. Sanger sequencing was used to detect gene mutations (C-KIT gene exons 9, 11, 13, 17, 18,and PDGFRA gene exons 12, 18)，and their relationship with clinical features was analyzed. Results 1）The mutation rate of C-KIT was 79.2%.The frequency of exon 11, 9 and 13 was 80.5%, 10% and 4.2%, respectively. Deletion mutations and point mutations were more common in exon 11 mutations. 2）The mutation rate of PDGFRA gene was 6.7%. The frequency of exon 18 mutation was 93.75% and the D842V point mutation was more common. 3）The mutation in exon 11 of C-KIT gene was high. The mutation occurred mostly in very moderate-risk, high-risk grades, and the morphology of spindle cell type was more common in C-KIT gene exons 11. The gastric mutation rate of PDGFRA gene exon 18 was high. The mutation occurred mostly in very low-risk, low-risk grades, and the morphology of cutaneous cell type was more common in PDGFRA gene exons 18. Conclusion The frequency of C-KIT/PDGFRA gene mutation in patients with gastrointestinal stromal tumors is very high and the mutation sites and forms are diverse. Therefore, we recommend the combined detection of C-KIT/PDGFRA gene before treatment to provide the basis for targeted therapy.

參考文獻/References:

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備注/Memo

備注/Memo:
1福建醫(yī)科大學省立臨床醫(yī)學院 福建省立醫(yī)院病理科；2福建醫(yī)科大學藥學院
更新日期/Last Update: 2022-10-15