新一代分子診斷技術(shù)在腫瘤精準(zhǔn)醫(yī)學(xué)中的應(yīng)用報(bào)告_第1頁(yè)
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1、精準(zhǔn)醫(yī)學(xué)(腫瘤領(lǐng)域)檢測(cè)方案設(shè)計(jì)和質(zhì)控基于新一代測(cè)序(NGS)腫瘤精準(zhǔn)醫(yī)學(xué)檢測(cè)產(chǎn)品設(shè)計(jì)全球多中心數(shù)據(jù)整合和數(shù)據(jù)質(zhì)控基于iFISH-CTC技術(shù)單細(xì)胞測(cè)序臨床應(yīng)用腫瘤早期檢測(cè)腫瘤個(gè)體化診療方案整合國(guó)際腫瘤數(shù)據(jù)庫(kù)基因Panel設(shè)計(jì)與應(yīng)用超高深度基因測(cè)序Panel設(shè)計(jì)腫瘤負(fù)荷、繼發(fā)耐藥監(jiān)控第1頁(yè)精準(zhǔn)醫(yī)學(xué)(腫瘤領(lǐng)域)檢測(cè)方案設(shè)計(jì)和質(zhì)控基于新一代測(cè)序(NGS)腫瘤精準(zhǔn)醫(yī)學(xué)檢測(cè)產(chǎn)品設(shè)計(jì)全球多中心數(shù)據(jù)整合和數(shù)據(jù)質(zhì)控第2頁(yè)新一代測(cè)序平臺(tái)互補(bǔ)融合性不一樣測(cè)序儀平臺(tái)能夠使用不一樣基因富集方法PCR捕捉PCR捕捉IonIonIlluminaIllumina第3頁(yè)基因變異類型檢測(cè) I:突變基因全長(zhǎng)(全外顯子)全部點(diǎn)突變

2、影響原因:基因富集覆蓋度(90%)影響原因:測(cè)序深度(200X)匯報(bào)中突變 %靈敏度:1%第4頁(yè)臨床研究發(fā)覺癌組織中CNV與Mutation共存腫瘤分型新概念(C型腫瘤,M型腫瘤)CSCO年會(huì)廈門 基因變異類型檢測(cè) II:拷貝數(shù)變異(Copy Number Variation, CNV)第5頁(yè)基因變異類型檢測(cè) III:融合基因NGS檢測(cè)融合基因RNA轉(zhuǎn)錄混正當(dāng)NCI-MATCH Sample Test -Oncomine Comprehensive Panel第6頁(yè)腫瘤發(fā)病機(jī)制學(xué)說腫瘤器官發(fā)生學(xué)說腫瘤血液發(fā)生學(xué)說腫瘤泛感染發(fā)生學(xué)說及診療進(jìn)展50例接收纈更昔洛韋(Valcyte)治療膠質(zhì)母細(xì)胞瘤

3、患者2年生存率為62%,對(duì)照組為18%(P0.001)。治療周期長(zhǎng)亞組預(yù)后更加好,2年生存率可達(dá)70%和90%上海xx醫(yī)院使用xxx抗病毒藥品治療xxx瘤取得突破性進(jìn)展N Engl J Med Sep 5;369(10):985-6第7頁(yè)基于iFISH-CTC技術(shù)單細(xì)胞測(cè)序臨床應(yīng)用腫瘤早期檢測(cè)腫瘤個(gè)體化診療方案8第8頁(yè)iFISH-CTC技術(shù)助力腫瘤精準(zhǔn)醫(yī)學(xué)研究第9頁(yè)腫瘤早期iFISH-CTC檢測(cè)數(shù)據(jù)(.1-.8)5363例統(tǒng)計(jì)癌種靈敏度乳腺癌 95.93%結(jié)直腸癌93.18%肝癌81%胰腺癌 97.73%肺癌91.67%胃癌92.59%甲狀腺癌87%食管癌81.8%第10頁(yè)CSCO年會(huì)廈門 癌

4、癥早期篩查受檢者信息檢測(cè)路徑病理檢驗(yàn)結(jié)果:低分化腺癌手術(shù)切除腺癌第11頁(yè)腫瘤早期綜合檢測(cè)及預(yù)防案例 -福建x州xx醫(yī)院循環(huán)腫瘤細(xì)胞檢測(cè)體內(nèi)存在腫瘤細(xì)胞提醒癌組織特征及用藥指導(dǎo)發(fā)覺 22 個(gè)腫瘤細(xì)胞影像學(xué)顯示右肺彌漫狀陰影(纖維化/癌變)激光顯微切割單個(gè)CTC腫瘤細(xì)胞單細(xì)胞全基因組測(cè)序分析12345定時(shí)隨訪和復(fù)查6癌標(biāo)NSE :72.6( 99%每份樣本測(cè)序深度10000X第19頁(yè)P(yáng)hase 1 results1,262 HCC related somatic mutations from original file (3,000,381 somatic mutations in total,

5、for all phenotypes).425 non-redundant HCC related somatic mutations, with unique genomic coordinates.These 425 mutations reside in 36 exons (covering 28 genes).Results would also be shown in figures later.第20頁(yè)P(yáng)hase 1 resultsThe covered 28 genes are (by official symbol):AACS,ADAM22,AKAP13,ARVCF,ATR,C

6、DKN2A,CLCC1,CUL3,DMGDH,EGFR,ERBB2,GABBR1,GIF,GTPBP2,HNF1A,JAK2,LITAF,MET,MFSD8,MUC5B,MYCL,NOVA1,NTRK2,PCDH7,PLEKHG5,PSTK,RAF1,USP25.OR (by ensembl ID):ENSG00000008277.10,ENSG00000036257.8,ENSG00000081760.12,ENSG00000096968.8,ENSG00000099889.9,ENSG00000105976.10,ENSG00000116990.9,ENSG00000117983.13,E

7、NSG00000121940.11,ENSG00000132155.7,ENSG00000132837.10,ENSG00000134812.3,ENSG00000135100.13,ENSG00000139910.15,ENSG00000141736.9,ENSG00000146648.11,ENSG00000147889.12,ENSG00000148053.11,ENSG00000155313.11,ENSG00000164073.5,ENSG00000169851.11,ENSG00000170776.15,ENSG00000171680.16,ENSG00000172432.14,E

8、NSG00000175054.10,ENSG00000179988.9,ENSG00000189067.8,ENSG00000204681.6第21頁(yè)P(yáng)hase 1 ResultsThese 36 exons covered 12,415bp in total, including:chr1 2061bpchr2 97bpchr3 201bpchr4 3218bpchr5 249bpchr6 322bpchr7 621bpchr8 0bpchr9 1986bpchr10 282bpchr11 350bpchr12 540bpchr13 0bpchr14 1400bpchr15 136bpchr

9、16 157bpchr17 342bpchr18 0bpchr19 0bpchr20 0bpchr21 325bpchr22 128bpchrX 0bpchrY 0bp第22頁(yè)6-phase selectorMethod description:Phase 2: max coverage “For each exon with SNVs covering 5 patients in LUAD and SCC, we selected the exon with highest RI that identified at least 1 new patient when compared to

10、the prior phase.” original paperData required: TCGA maf files (somatic mutation)第23頁(yè)6-phase selectorMethod description:Phase 3: RI = 30 & =3 patients “For each remaining exon with an RI 30 and with SNVs covering 3 patients in LUAD and SCC, we identified the exon that would result in the largest redu

11、ction in patients with only 1 SNV.” original paperData required: TCGA maf files (somatic mutation)第24頁(yè)6-phase selectorMethod description:Phase 4: RI = 20 & = 3 patients “Same procedure as phase 3, but using RI 20.” original paperData required: TCGA maf files (somatic mutation)第25頁(yè)6-phase selectorMet

12、hod description:Phase 5: Predicted drivers “We included all exons from additional genes previously predicted to harbor driver mutations in NSCLC.” original paperData required: predicted driver gene in HCC (from publication, 15 genes in reference paper)第26頁(yè)6-phase selectorMethod description:Phase 6:

13、Add fusions “For recurrent rearrangements in NSCLC involving the receptor tyrosine kinases ALK, ROS1, and RET, the introns most frequently implicated in the fusion event and the flanking exons were included.” original paperNot included (not under our consideration by far).第27頁(yè)ResultsThis panel inclu

14、des:604 genes (not necessarily have all exons of this gene included in panel)782 exons 120.1 kb in total, 154 bp per exon202 patients in total199 patients covered by this panel199 (99%), 181 (90%), 158 (78%) patients with at least 1, 2, 3 SNVsMean RI is 22.67 (Recurrence Index, the higher this number the more chance a SNV is found in patients)RI is

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