測(cè)試分析報(bào)告范例胃癌肺轉(zhuǎn)移

性）。2010年登記發(fā)病病例315.7萬(wàn)例，其中187.4萬(wàn)例，女性128.3萬(wàn)例。平均每分鐘約6人被導(dǎo)的方法，平均有效率僅20%，意味著80%的患者在第一次用藥前就注定治療無(wú)效的最終結(jié)果，遠(yuǎn)遠(yuǎn)現(xiàn)代醫(yī)學(xué)研究大大促進(jìn)了腫瘤治療，隨著以腫瘤組學(xué)為基礎(chǔ)的精準(zhǔn)醫(yī)療的蓬勃發(fā)展，針對(duì)每個(gè)患息學(xué)分析，揭示有效變異；在此基礎(chǔ)上，通過(guò)分析FDA批準(zhǔn)的靶向藥物的作用靶點(diǎn)和患者具體的突變之間的關(guān)系為有特定突變的患者尋找針對(duì)性的靶向治療方式，從而鑒定得到患者特定的藥效圖譜，指住院號(hào)住院號(hào)腫瘤類型：胃癌（賁門）報(bào)告日期：20XX-XX---PAGE10患 測(cè)試開(kāi)始時(shí)間：20XX-XX-3DMed測(cè)試編號(hào):關(guān)于檢測(cè)鑒定出 變異ERBB2 RICTORamplification PIK3CA 鑒定出 變異ERBB2 RICTORamplification PIK3CA 檢測(cè)結(jié)果?完整的列表詳見(jiàn)附治療治療意義(在患者所屬腫瘤類型中FDA(在其他腫瘤類型中（FDACFDA均已批準(zhǔn)（FDACFDA均已批準(zhǔn)無(wú)（FDACFDA均已批準(zhǔn)無(wú)（FDACFDA均已批準(zhǔn)說(shuō)明：檢測(cè)到與特定FDA批準(zhǔn)藥物相關(guān)的變異。報(bào)告列出的藥物療效可能在該患者所屬腫瘤類型不同臨床試驗(yàn)中療效不同。所 變變員。在腫瘤細(xì)胞中，HER2擴(kuò)增后HER2激活，從而啟動(dòng)下ERK和PI3K等信號(hào)通路，調(diào)控細(xì)胞生號(hào)通路，如PI3K/AKT/mTORRas/Raf/MAPK2-4。HER2ERBB2成5。擴(kuò)增是HER2在腫瘤中最常見(jiàn)的變異形式，擴(kuò)增后可使蛋白過(guò)表達(dá)，如，胃癌，癌，癌。HER2在肺癌和等腫瘤中也存在激活突變6,7。ERBB2在胃癌中存在突變和拷貝數(shù)存在ERBB2擴(kuò)增，15.79%（45/285）胃癌患者中ERBB2表達(dá)上調(diào)（Catalogueof式抗RICTOR編碼一個(gè)1709個(gè)氨基酸的RICTOR蛋白。RICTOR與mTOR,mLST8,sin1,PRR5組鍵作用化RICTOR，其中在RICTOR突變，拷貝數(shù)變RICTOR過(guò)表達(dá)的比率分別5.92%（18/304）和（Catalogueofsomaticmutationsincancer,2015）。mTOR抑制劑霉素和依維莫司已經(jīng)被FDA批準(zhǔn)，制mTOR可以抑制RICTOR磷酸化17和mTORC2的活性18。提示該可能對(duì)mTOR抑制劑霉素PIK3CA編碼PI3K的p110α催化亞基，參與如EGFR，HER2/ERBB2等酪氨酸激酶受體調(diào)控的信號(hào)路。PI3K的激活形式包括p85調(diào)節(jié)亞p110催化亞基。PI3K經(jīng)典信號(hào)通路是活化的PI3K將PIP2轉(zhuǎn)建，約在過(guò)表達(dá)的比率分別是3.29%（10/304）8.07%（23/285）（Catalogueofsomaticmutationscancer,2015）。E726K突變位點(diǎn)位于PIK3CAPI3Kc-IA-alpha結(jié)構(gòu)域，后者是PIK3CA有其對(duì)功能的影響22。直接靶向PIK3CA的藥物目前處于臨床試驗(yàn)階段，暫未獲得FDA批準(zhǔn)。PI3K信號(hào)通路下游的mTOR抑制劑霉素、依維莫司、坦羅莫司已經(jīng)被FDA批準(zhǔn)。臨床前數(shù)據(jù)顯示，PIK3CA突變導(dǎo)致PI3K信號(hào)通路異常的腫瘤細(xì)胞，對(duì)mTOR抑制劑依維莫司和霉素敏感23,24。臨床試驗(yàn)數(shù)據(jù)也顯示，與PIK3CA野生型的患者相比，PIK3CA突變的患者對(duì)坦羅莫司反應(yīng)率更高25,26。提示PIK3CA發(fā)生擴(kuò)增的異常表達(dá)可能mTOR抑制劑霉素、依維莫司和坦羅莫司敏感。然而也有臨床數(shù)據(jù)顯示，PIK3CA突變與依維莫司27（NCT ）和坦羅莫司28的臨床有效率無(wú)關(guān)。檢測(cè)出所屬腫瘤類型中FDA已批準(zhǔn)治療的相關(guān)變異治療方 理論基 其他治療方式–FDA治療方 理論基 拉帕替尼，Lapatinib受過(guò)包括蒽環(huán)類，紫杉醇，赫賽汀治療的晚期或轉(zhuǎn)移。該患者HER2擴(kuò)增，提示可能對(duì)拉帕替尼敏感測(cè)依維莫司的敏感性型細(xì)胞對(duì)霉素更敏感24。該患者攜帶PIK3CA突變，提示可能對(duì)霉素敏感 相關(guān)臨床試驗(yàn)相關(guān)臨床試驗(yàn)結(jié)（p=0.0002，HR=0.71）以顯著提HER2陽(yáng)性患者的總體生存率（紫杉醇組中8.9個(gè)月，聯(lián)合用藥組中位總體生存率與野生型相比，PIK3CA突變或PTEN缺失都可以提高（依據(jù)PIK3CA20號(hào)外顯子突變，可以預(yù)測(cè)細(xì)胞增殖標(biāo)志附附FDA批準(zhǔn)的同伴診斷標(biāo)志物檢測(cè)結(jié)果檢測(cè)診斷意義 檢測(cè)結(jié)果FDA批準(zhǔn)BRAF抑制劑威羅和達(dá)拉、MEK抑制劑曲美替尼用于治療BRAFV600突變陽(yáng)性的黑色素瘤32-34FDAEGFR抑制劑吉非替尼、厄洛替尼、阿法替尼用于治EGFR突變的非小細(xì)胞肺癌35-37FDAEGFR抑制劑吉非替尼、厄洛替尼、阿法替KRAS野生型非小細(xì)胞肺癌；EGFR單抗帕尼和西妥昔用于KRAS野生型結(jié)腸癌38性的39-41附附意義不明的變異 注釋:該患者樣本中檢測(cè)出了多個(gè)意義不明的變異，這些變異在科研文獻(xiàn)中還未被充分闡明。我們選取在將來(lái)可能具有臨床意義檢測(cè) 附附該產(chǎn)品被設(shè)計(jì)用于檢測(cè)實(shí)體腫瘤中的以下信息，a.已確認(rèn)的與靶向藥物治療相關(guān)的變異，包括已批準(zhǔn)的和處于臨床試驗(yàn)藥物；b.現(xiàn)有知識(shí)體系已明確的驅(qū)動(dòng)腫瘤發(fā)生的變異?，F(xiàn)有檢測(cè)包括365個(gè)和25個(gè)融合。該檢測(cè)產(chǎn)品會(huì)定期地隨著腫瘤相關(guān)知NKX2-C融合性能參 堿基替換頻率附附參考文 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