【佳學(xué)基因檢測】基因檢測胃癌表皮生長因子受體結(jié)構(gòu)改變

腫瘤基因檢測多少錢一次—目標(biāo)

小組討論腫瘤基因?qū)W知識要點(diǎn)，《腫瘤致病基因突變位點(diǎn)的性質(zhì)及影響分析》在消化科常見腫瘤這一節(jié)中引用了《BMC Cancer》在. 2008 Jan 16;8:10.發(fā)表了一篇題目為《胃癌表皮生長因子受體結(jié)構(gòu)改變》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Cátia Moutinho , Ana R Mateus, Fernanda Milanezi, Fátima Carneiro, Raquel Seruca, Gianpaolo Suriano等完成。促進(jìn)了胃癌多種致病基因的基因檢測及解讀分析注意事項，為三甲醫(yī)院醫(yī)生通過基因檢測與臨床的結(jié)合發(fā)表科研成果的一個范例。

消化科腫瘤找到治療藥物的機(jī)構(gòu)臨床研究內(nèi)容關(guān)鍵詞：

胃癌,消化道,EGFR突變,靶向藥物,FISH,基因檢測

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

胃癌靶向用藥基因檢測研究背景：佳學(xué)基因檢測已在人類的移種腫瘤中記錄并析芝EGFR 的過度表達(dá)，這其中也包括胃癌。在非小細(xì)胞肺癌 NSCLC 患者中，蛋白質(zhì)激酶結(jié)構(gòu)域內(nèi)的體細(xì)胞 EGFR 突變以及基因擴(kuò)增與對 EGFR 抑制劑的良好臨床反應(yīng)相關(guān)。在胃腫瘤中，關(guān)于 EGFR 結(jié)構(gòu)改變的數(shù)據(jù)仍然存在爭議。鑒于其可能的治療相關(guān)性，佳學(xué)基因解碼旨在確定 EGFR 基因在一系列原發(fā)性胃癌中結(jié)構(gòu)改變的頻率和類型。消化道腫瘤靶向藥物基因檢測研究方法：在一系列 77 個原發(fā)性胃癌中對 EGFR 基因的激酶結(jié)構(gòu)域進(jìn)行直接測序基因測序。對 30 例進(jìn)行了 FISH 基因檢測分析。進(jìn)行了EGFR改變與腫瘤臨床病理特征之間的關(guān)聯(lián)研究。胃癌基因檢測與臨床病理特征之間的關(guān)系研究結(jié)果：在77例原發(fā)性胃癌中，胃癌靶向藥物治療靶點(diǎn)研究發(fā)現(xiàn)了2個EGFR體細(xì)胞突變和幾個存在于20號外顯子EGFR多態(tài)性。還發(fā)現(xiàn)了6個不同的EGFR內(nèi)含子序列變體。四種胃癌表現(xiàn)出平衡的多體性或EGFR基因擴(kuò)增。腫瘤正確用藥基因檢測證實(shí)，與野生型 EGFR 癌相比，具有 EGFR 改變（體細(xì)胞突變或拷貝數(shù)變異）的胃癌顯示出腫瘤大小顯著增加（p = 0.0094）。腫瘤預(yù)后及基因突變特征研究結(jié)論：消化道腫瘤基因解碼證明 EGFR 結(jié)構(gòu)改變在胃癌中很少見，但只要存在，它就會導(dǎo)致腫瘤生長。腫瘤基因序列變化與胃癌的正確治療認(rèn)為尋找胃癌中的 EGFR 改變可能在臨床上很重要，以識別對酪氨酸激酶抑制劑敏感的患者。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國際數(shù)據(jù)庫描述：

Background: EGFR overexpression has been described in many human tumours including gastric cancer. In NSCLC patients somatic EGFR mutations, within the kinase domain of the protein, as well as gene amplification were associated with a good clinical response to EGFR inhibitors. In gastric tumours data concerning structural alterations of EGFR remains controversial. Given its possible therapeutic relevance, we aimed to determine the frequency and type of structural alterations of the EGFR gene in a series of primary gastric carcinomas.Methods: Direct sequencing of the kinase domain of the EGFR gene was performed in a series of 77 primary gastric carcinomas. FISH analysis was performed in 30 cases. Association studies between EGFR alterations and the clinical pathological features of the tumours were performed.Results: Within the 77 primary gastric carcinomas we found two EGFR somatic mutations and several EGFR polymorphisms in exon 20. Six different intronic sequence variants of EGFR were also found. Four gastric carcinomas showed balanced polysomy or EGFR gene amplification. We verified that gastric carcinoma with alterations of EGFR (somatic mutations or copy number variation) showed a significant increase of tumour size (p = 0.0094) in comparison to wild-type EGFR carcinomas.Conclusion: We demonstrate that EGFR structural alterations are rare in gastric carcinoma, but whenever present, it leads to tumour growth. We considered that searching for EGFR alterations in gastric cancer is likely to be clinically important in order to identify patients susceptible to respond to tyrosine kinase inhibitors.