高通量测序在妇科恶性肿瘤早期筛查中的应用进展
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摘要
为提高和改善以宫颈癌、子宫内膜癌以及卵巢癌为代表的妇科恶性肿瘤的治疗效果以及预后,寻找一种有效的早期筛查手段非常重要。由于恶性肿瘤的发生、发展涉及多种基因的变化,因此单纯检测一个或几个基因难以对恶性肿瘤的发生及发展进行有效预测,不能达到准确筛查的目的。高通量测序是一种可以一次对几十到几百万条DNA序列进行检测和读长较短的检测技术,对于细胞的转录组和基因组可以进行细致全面的分析,其可用于妇科恶性肿瘤的早期筛查。
In order to improve the therapeutic effect and prognosis of malignant gynecologic tumors,such as cervical cancer,endometrial cancer and ovarian cancer,it is very important to find an effective early screening method. Because the occurrence and development of malignant tumors involve a variety of gene changes,it is difficult to effectively predict the occurrence and development by detecting only one or several genes to achieve accurate screening. High-throughput sequencing is a technique that can detect dozens to millions of DNA sequences at a time with short read length,which can analyze the transcription group and genome of cells meticulously and comprehensively. Therefore,it can be used for the early screening of malignant gynecologic tumors.
In order to improve the therapeutic effect and prognosis of malignant gynecologic tumors,such as cervical cancer,endometrial cancer and ovarian cancer,it is very important to find an effective early screening method. Because the occurrence and development of malignant tumors involve a variety of gene changes,it is difficult to effectively predict the occurrence and development by detecting only one or several genes to achieve accurate screening. High-throughput sequencing is a technique that can detect dozens to millions of DNA sequences at a time with short read length,which can analyze the transcription group and genome of cells meticulously and comprehensively. Therefore,it can be used for the early screening of malignant gynecologic tumors.
引文
[1]Baldur-Felskov B,Munk C,Nielsen TS,et al.Trends in the incidence of cervical cancer and severe precancerous lesions in Denmark,1997-2012[J].Cancer Cause Control,2015,26(8):1105-1116.
[2]陈万青,孙可欣,郑荣寿,等.2014年中国分地区恶性肿瘤发病和死亡分析[J].中国肿瘤,2018,27(1):1-14.
[3]祁冀,高恭兴.22年子宫颈癌、子宫内膜癌发病率及发病年龄趋势变化[J].中国肿瘤临床,2001,28(7):519-521.
[4]李芹,刘春容,李静.世界范围内9~26岁女性对HPV的认知现状及预防性HPV疫苗的应用现况[J].中国肿瘤,2017,26(3):161-169.
[5]Jia Y,Li S,Yang R,et al.Knowledge about cervical cancer and barriers of screening program among women in Wufeng County,a high-incidence region of cervical cancer in China[J].PLo S One,2013,8(7):e67005.
[6]Lazaridou S,Dinas K,Tziomalos K.Prevalence,pathogenesis and management of prediabetes and type 2 diabetes in patients with polycystic ovary syndrome[J].Hormones,2017,16(4):373-380.
[7]Dallol A,Buhmedida A,Al-Ahwal MS,et al.Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples[J].J Transl Med,2016,14(1):118.
[8]Huang Z,Zheng Y,Wen W,et al.Incidence and mortality of gynaecological cancers:Secular trends in urban Shanghai,China over 40 years[J].Eur J Cancer,2016,63:1-10.
[9]Kwong A,Ho JCW,Shin VY,et al.Rapid detection of BRCA1/2recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels[J].Oncotarget,2018,9(8):7832-7843.
[10]Hirasawa A,Imoto I,Naruto T,et al.Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer[J].Oncotarget,2017,8(68):112258-112267.
[11]Myszka A,Nguyen-Dumont T,Karpinski P,et al.Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine[J].Fam cancer,2018,17(3):345-349.
[12]Chmelarova M,Baranova I,Ruszova E,et al.Importance of Cadherins Methylation in Ovarian Cancer:A Next Generation Sequencing Approach[J/OL].Pathol Oncol Res,2018[2018-12-01].https://link.springer.com/article/10.1007%2Fs12253-018-0500-y.[published online ahead of print Oct.27,2018].
[13]Li Q,Xue X,Li W,et al.Heterogeneous DNA methylation status in same-cell subpopulations of ovarian cancer tissues[J].Tumour Biol,2017,39(6):101042831770165.
[14]Stanczuk GA,Baxter GJ,Currie H,et al.Defining optimal triage strategies for hr HPV screen positive women-an evaluation of HPV16/18 genotyping,cytology and p16/Ki-67 cyto-immunochemistry[J].Cancer Epidemiol Biomarkers Prev,2017,26(11):1629-1635.
[15]Yu M,Xu Y,Pan L,et al.miR-10b Downregulated by DNA Methylation Acts as a Tumor Suppressor in HPV-Positive Cervical Cancer via Targeting Tiam1[J].Cell Physiol Biochem,2018,51(4):1763-1777.
[16]Yao J,Li Z,Yang Z,et al.Long noncoding RNA TOB1-AS1,an epigenetically silenced gene,functioned as a novel tumor suppressor by sponging miR-27b in cervical cancer[J].Am J Cancer Res,2018,8(8):1483-98.
[17]Wu D,Zhang J,Fan P,et al.Methylation in the promoter regions of WT1,NKX6-1 and DBC1 genes in cervical cancer tissues of Uygur women in Xinjiang[J].Genet Mol Biol,2018,41(1):9-17.
[18]Liang WS,Aldrich J,Nasser S,et al.Simultaneous characterization of somatic events and HPV-18 integration in a metastatic cervical carcinoma patient using DNA and RNA sequencing[J].Int J Gynecol Cancer,2014,24(2):329-338.
[19]Warburton A,Redmond CJ,Dooley KE,et al.HPV integration hijacks and multimerizes a cellular enhancer to generate a viralcellular super-enhancer that drives high viral oncogene expression[J].PLo S Genet,2018,14(1):e1007179.
[20]Clarke MA,Luhn P,Gage JC,et al.Discovery and validation of candidate host DNA methylation markers for detection of cervical precancer and cancer[J].Int J Cancer,2017,141(4):701-710.
[21]Bhat S,Kabekkodu SP,Varghese VK,et al.Aberrant gene-specific DNA methylation signature analysis in cervical cancer[J].Tumor Biol,2017,39(3):101042831769457.
[22]Nair N,Camacho-Vanegas O,Rykunov D,et al.Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer:A Prospective CrossSectional Study[J].PLo S Med,2016,13(12):e1002206.
[23]Maritschnegg E,Wang Y,Pecha N,et al.Lavage of the Uterine Cavity for Molecular Detection of Mullerian Duct Carcinomas:AProof of Concept Study[J].J Clin Oncol,2015,33(36):4293-4300.
[24]Muller E,Brault B,Holmes A,et al.Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care[J].Cancer Med,2015,4(10):1484-1493.
[25]Menon U,Mcguire AJ,Raikou M,et al.The cost-effectiveness of screening for ovarian cancer:Results from the UK Collaborative Trial of Ovarian Cancer Screening(UKCTOCS)[J].Br J Cancer,2017,117(5):619-627.
[26]Xia Z,Cochrane DR,Anglesio MS,et al.LINE-1 retrotransposonmediated DNA transductions in endometriosis associated ovarian cancers[J].Gynecol Oncol,2017,147(3):642-647.
[27]Christie EL,Fereday S,Doig K,et al.Reversion of BRCA1/2Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer[J].J Clin Oncol,2017,35(12):1274-1280.
[28]Cohen PA,Flowers N,Tong S,et al.Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform:Implications for cancer screening[J].BMC Med,2016,14(1):126.
[29]Zhou Q,Li W,Leng B,et al.Circulating Cell Free DNA as the Diagnostic Marker for Ovarian Cancer:A Systematic Review and Meta-Analysis[J].PLo S One,2016,11(6):e0155495.
[30]El Sherbini MA,Mansour AA,Sallam MM,et al.KLK10 exon 3unmethylated PCR product concentration:A new potential early diagnostic marker in ovarian cancer?-A pilot study[J].J Ovarian Res,2018,11(1):32.
[31]Phallen J,Sausen M,Adleff V,et al.Direct detection of earlystage cancers using circulating tumor DNA[J].Sci Transl Med,2017,9(403):pii:eaan2415.
[32]Meng Y,Chen CW,Yung MMH,et al.DUOXA1-mediated ROSproduction promotes cisplatin resistance by activating ATR-Chk1pathway in ovarian cancer[J].Cancer Lett,2018,428:104-16.
[33]Ratajska M,Koczkowska M,uk M,et al.Detection of BRCA1/2mutations in circulating tumor DNA from patients with ovarian cancer[J].Oncotarget,2017,8(60):101325-101332.
[34]Shen J,Ju Z,Zhao W,et al.ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade[J].Nat Med,2018,24(5):556-562.
[2]陈万青,孙可欣,郑荣寿,等.2014年中国分地区恶性肿瘤发病和死亡分析[J].中国肿瘤,2018,27(1):1-14.
[3]祁冀,高恭兴.22年子宫颈癌、子宫内膜癌发病率及发病年龄趋势变化[J].中国肿瘤临床,2001,28(7):519-521.
[4]李芹,刘春容,李静.世界范围内9~26岁女性对HPV的认知现状及预防性HPV疫苗的应用现况[J].中国肿瘤,2017,26(3):161-169.
[5]Jia Y,Li S,Yang R,et al.Knowledge about cervical cancer and barriers of screening program among women in Wufeng County,a high-incidence region of cervical cancer in China[J].PLo S One,2013,8(7):e67005.
[6]Lazaridou S,Dinas K,Tziomalos K.Prevalence,pathogenesis and management of prediabetes and type 2 diabetes in patients with polycystic ovary syndrome[J].Hormones,2017,16(4):373-380.
[7]Dallol A,Buhmedida A,Al-Ahwal MS,et al.Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples[J].J Transl Med,2016,14(1):118.
[8]Huang Z,Zheng Y,Wen W,et al.Incidence and mortality of gynaecological cancers:Secular trends in urban Shanghai,China over 40 years[J].Eur J Cancer,2016,63:1-10.
[9]Kwong A,Ho JCW,Shin VY,et al.Rapid detection of BRCA1/2recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels[J].Oncotarget,2018,9(8):7832-7843.
[10]Hirasawa A,Imoto I,Naruto T,et al.Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer[J].Oncotarget,2017,8(68):112258-112267.
[11]Myszka A,Nguyen-Dumont T,Karpinski P,et al.Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine[J].Fam cancer,2018,17(3):345-349.
[12]Chmelarova M,Baranova I,Ruszova E,et al.Importance of Cadherins Methylation in Ovarian Cancer:A Next Generation Sequencing Approach[J/OL].Pathol Oncol Res,2018[2018-12-01].https://link.springer.com/article/10.1007%2Fs12253-018-0500-y.[published online ahead of print Oct.27,2018].
[13]Li Q,Xue X,Li W,et al.Heterogeneous DNA methylation status in same-cell subpopulations of ovarian cancer tissues[J].Tumour Biol,2017,39(6):101042831770165.
[14]Stanczuk GA,Baxter GJ,Currie H,et al.Defining optimal triage strategies for hr HPV screen positive women-an evaluation of HPV16/18 genotyping,cytology and p16/Ki-67 cyto-immunochemistry[J].Cancer Epidemiol Biomarkers Prev,2017,26(11):1629-1635.
[15]Yu M,Xu Y,Pan L,et al.miR-10b Downregulated by DNA Methylation Acts as a Tumor Suppressor in HPV-Positive Cervical Cancer via Targeting Tiam1[J].Cell Physiol Biochem,2018,51(4):1763-1777.
[16]Yao J,Li Z,Yang Z,et al.Long noncoding RNA TOB1-AS1,an epigenetically silenced gene,functioned as a novel tumor suppressor by sponging miR-27b in cervical cancer[J].Am J Cancer Res,2018,8(8):1483-98.
[17]Wu D,Zhang J,Fan P,et al.Methylation in the promoter regions of WT1,NKX6-1 and DBC1 genes in cervical cancer tissues of Uygur women in Xinjiang[J].Genet Mol Biol,2018,41(1):9-17.
[18]Liang WS,Aldrich J,Nasser S,et al.Simultaneous characterization of somatic events and HPV-18 integration in a metastatic cervical carcinoma patient using DNA and RNA sequencing[J].Int J Gynecol Cancer,2014,24(2):329-338.
[19]Warburton A,Redmond CJ,Dooley KE,et al.HPV integration hijacks and multimerizes a cellular enhancer to generate a viralcellular super-enhancer that drives high viral oncogene expression[J].PLo S Genet,2018,14(1):e1007179.
[20]Clarke MA,Luhn P,Gage JC,et al.Discovery and validation of candidate host DNA methylation markers for detection of cervical precancer and cancer[J].Int J Cancer,2017,141(4):701-710.
[21]Bhat S,Kabekkodu SP,Varghese VK,et al.Aberrant gene-specific DNA methylation signature analysis in cervical cancer[J].Tumor Biol,2017,39(3):101042831769457.
[22]Nair N,Camacho-Vanegas O,Rykunov D,et al.Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer:A Prospective CrossSectional Study[J].PLo S Med,2016,13(12):e1002206.
[23]Maritschnegg E,Wang Y,Pecha N,et al.Lavage of the Uterine Cavity for Molecular Detection of Mullerian Duct Carcinomas:AProof of Concept Study[J].J Clin Oncol,2015,33(36):4293-4300.
[24]Muller E,Brault B,Holmes A,et al.Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care[J].Cancer Med,2015,4(10):1484-1493.
[25]Menon U,Mcguire AJ,Raikou M,et al.The cost-effectiveness of screening for ovarian cancer:Results from the UK Collaborative Trial of Ovarian Cancer Screening(UKCTOCS)[J].Br J Cancer,2017,117(5):619-627.
[26]Xia Z,Cochrane DR,Anglesio MS,et al.LINE-1 retrotransposonmediated DNA transductions in endometriosis associated ovarian cancers[J].Gynecol Oncol,2017,147(3):642-647.
[27]Christie EL,Fereday S,Doig K,et al.Reversion of BRCA1/2Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer[J].J Clin Oncol,2017,35(12):1274-1280.
[28]Cohen PA,Flowers N,Tong S,et al.Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform:Implications for cancer screening[J].BMC Med,2016,14(1):126.
[29]Zhou Q,Li W,Leng B,et al.Circulating Cell Free DNA as the Diagnostic Marker for Ovarian Cancer:A Systematic Review and Meta-Analysis[J].PLo S One,2016,11(6):e0155495.
[30]El Sherbini MA,Mansour AA,Sallam MM,et al.KLK10 exon 3unmethylated PCR product concentration:A new potential early diagnostic marker in ovarian cancer?-A pilot study[J].J Ovarian Res,2018,11(1):32.
[31]Phallen J,Sausen M,Adleff V,et al.Direct detection of earlystage cancers using circulating tumor DNA[J].Sci Transl Med,2017,9(403):pii:eaan2415.
[32]Meng Y,Chen CW,Yung MMH,et al.DUOXA1-mediated ROSproduction promotes cisplatin resistance by activating ATR-Chk1pathway in ovarian cancer[J].Cancer Lett,2018,428:104-16.
[33]Ratajska M,Koczkowska M,uk M,et al.Detection of BRCA1/2mutations in circulating tumor DNA from patients with ovarian cancer[J].Oncotarget,2017,8(60):101325-101332.
[34]Shen J,Ju Z,Zhao W,et al.ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade[J].Nat Med,2018,24(5):556-562.