腫瘤檢測(cè)方案設(shè)計(jì)及送檢樣本要求2016第一版

檢測(cè)目錄送檢樣本要求······················第2頁(yè)肺癌······························第3頁(yè)結(jié)直腸癌··························第4頁(yè)乳腺癌····························第5頁(yè)胃癌······························第6頁(yè)肝癌······························第7頁(yè)食管癌····························第8頁(yè)前列腺癌··························第9頁(yè)胃腸間質(zhì)瘤························第9頁(yè)腎癌······························第10頁(yè)膀胱癌····························第11頁(yè)骨肉癌····························第11頁(yè)卵巢癌····························第12頁(yè)宮頸癌····························第13頁(yè)胰腺癌····························第14頁(yè)黑色素瘤··························第14頁(yè)腦膠質(zhì)瘤··························第15頁(yè)頭頸部腫瘤························第16頁(yè)送檢要本要求樣本類(lèi)型實(shí)體瘤血液病融合VEGFRctDNACTCDNARNA基因1.病理組織或穿刺組織biomarker）√√××√√√√（適合所有生物標(biāo)志物2.胸腹水（鑒定含腫瘤細(xì)胞后檢測(cè)為宜，不能檢測(cè)MSI）有核細(xì)胞外周血血漿

√ √ × × √ √ √ √× √ × √ √ × × ×× × √ × × × √ √注：1.送檢樣本優(yōu)先級(jí)別是1〉2〉3；打“√”表示可以送檢，打“×”表示不能送檢。樣本類(lèi)型送檢樣本量運(yùn)輸保存條件穿刺的新鮮組織2～4根穿刺骨髓穿刺2～4根穿刺冷藏高鹽浸泡的組織黃豆大小1.病理組織或穿刺組織甲醛浸泡或固定的組織黃豆大小蠟塊/蠟卷3um×20片常溫切片1×1cm×10片1.未離心收集沉淀前冷藏保存2.胸腹水100ml以上2.離心沉淀冷凍保存3.離心沉淀中加入含有蛋白質(zhì)變性劑的緩沖液可室溫保存3.外周血5ml（EDTA抗凝管-紫色）冷藏4.血漿600ul冷凍肺癌藥物（更替代）標(biāo)志物項(xiàng)目檢測(cè)目的數(shù)量等級(jí)送檢樣本類(lèi)型吉非替尼（1）Exon18療效11A厄洛替尼（1）EGFR突變Exon19療效11A1/2/3?？颂婺幔?）Exon20療效11AAZD9291（3）Exon21療效11A克唑替尼ALKFusion療效61A1/2/3ROS1Fusion療效41A色瑞替尼C-METmRNA療效11A1/2KRAS突變Exon2療效11AKRAS突變Exon3療效11A1/2/3EGFR-TKISPIK3CA突變Exon9療效11APIK3CA突變Exon20療效11AC-METmRNA療效11A1/2VEGFR1mRNA療效12B貝伐單抗VEGFR2mRNA療效12B1/2/3VEGFR3mRNA療效12B派姆單抗PD-L1mRNA療效12A1/2納武單抗鉑類(lèi)ERCC1mRNA療效12A1/2環(huán)磷酰胺BRCA1mRNA療效12A表柔比星GSTP1A>G療效/毒性12A1/2/3順鉑XPC多態(tài)性C>A毒性11B1/2/3卡鉑MTHFRG>A毒性12A1/2/3化療NQO1G>A療效12A1/2/3培美曲塞TSmRNA療效12A1/2TUBB3mRNA療效12A紫衫類(lèi)/新堿BRCA1mRNA療效12A1/2STMN1mRNA療效12AMDR1mRNA療效12A1/2/3吉西他濱RRM1mRNA療效12A1/2hENT1mRNA療效12A甲氨蝶呤MDR1A>G毒性12A1/2/3伊立替康UGT1A1*6G>A毒性12A1/2/3UGT1A1*28(TA)6>(TA)7毒性12A依托泊苷TopoⅡαmRNA療效12A1/2結(jié)直腸癌藥物（更替代）標(biāo)志物項(xiàng)目檢測(cè)目的數(shù)量等級(jí)送檢樣本類(lèi)型KRAS突變Exon2療效11AKRAS突變Exon3療效11ANRAS突變Exon2療效11A西妥昔單抗NRAS突變Exon3療效11A1/2/3帕尼單抗PIK3CA突變Exon9療效11A阿司匹林PIK3CA突變Exon20療效11ABRAF突變Exon15療效11AFCGR3AT>G療效12B1/2/3EGFA>G療效12BVEGFR1mRNA療效12B貝伐單抗VEGFR2mRNA療效12B1/2/3VEGFR3mRNA療效12B派姆單抗/5-FUMSIDNA療效62A正常組織/血1/3納武單抗/5-FU腫瘤組織1DPYDT>A毒性11ADPYDC>T毒性11A1/2/3DPYDA>C毒性11A5-FU/卡培他濱DPYDT>C毒性12ATSmRNA療效12A1/2TYMST>TTAAAG療效12A1/2/3氟尿嘧啶和奧沙利鉑GSTP1A>G療效12A1/2/3化療NQO1G>A療效12A1/2/3ERCC1mRNA療效12A1/2鉑類(lèi)BRCA1mRNA療效12AGSTP1A>G毒性12A1/2/3順鉑XPC多態(tài)性C>A毒性11B1/2/3甲氨蝶呤MDR1A>G毒性12A1/2/3伊立替康UGT1A1*6G>A毒性12A1/2/3UGT1A1*28(TA)6>(TA)7毒性12A乳腺癌藥物（更替代）標(biāo)志物項(xiàng)目檢測(cè)目的數(shù)量等級(jí)送檢樣本類(lèi)型復(fù)發(fā)風(fēng)險(xiǎn)預(yù)測(cè)ERmRNA療效12A1/221基因mRNA療效12AHER2mRNA療效11A1/2拉帕替尼HLA-DQA1*02:01毒性22B1/2/3HLA-DRB1*07:01毒性22B依維莫司ESR1mRNA療效11A1/2HER2mRNA療效11AHER2mRNA療效11A1/2曲妥珠單抗PIK3CA突變Exon9療效11A1/2/3帕妥珠單抗PIK3CA突變Exon20療效11AT-DM1FCGR2AA>G療效12B1/2/3FCGR3AT>G療效12BVEGFR1mRNA療效12B貝伐單抗VEGFR2mRNA療效12B1/2VEGFR3mRNA療效12B表柔比星/多柔比星TopoⅡαmRNA療效12A1/2表柔比星和環(huán)磷酰胺GSTP1A>G療效/毒性12A1/2/3環(huán)磷酰胺MTHFRG>A毒性12A1/2/3化療NQO1G>A療效12A1/2/3ERCC1mRNA療效12A1/2鉑類(lèi)BRCA1mRNA療效12AGSTP1A>G毒性12A1/2/3順鉑XPC多態(tài)性C>A毒性11B1/2/3DPYDT>A毒性11ADPYDC>T毒性11A5氟類(lèi)/卡培他濱DPYDA>C毒性11A1/2/3DPYDT>C毒性12ATYMST>TTAAAG療效12ATS