随着第二代测序(next-generation sequencing,NGS)技术在前列腺癌诊疗中愈加广泛的应用,越来越多的患者能够从前列腺癌精准治疗中获益。美国食品药品管理局(Food and Drug Administration,FDA)已批准多聚腺苷二磷酸核糖聚合酶[poly(ADP-...随着第二代测序(next-generation sequencing,NGS)技术在前列腺癌诊疗中愈加广泛的应用,越来越多的患者能够从前列腺癌精准治疗中获益。美国食品药品管理局(Food and Drug Administration,FDA)已批准多聚腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂用于携带同源重组修复基因突变的转移性去势抵抗性前列腺癌的治疗;而就程序性死亡[蛋白]-1(programmed death-1,PD-1)/程序性死亡[蛋白]配体-1(programmed death ligand-1,PD-L1)抗体等免疫检查点抑制剂而言,错配修复缺陷及高微卫星不稳定型前列腺癌患者能够通过帕博利珠单抗(pembrolizumab)治疗获益。此外,NGS检测对于携带胚系基因突变患者家属肿瘤发病风险的预估也具有重要作用。如何在利用NGS技术精准定位可获益前列腺癌患者的同时避免过度检测,如何在遗传咨询中针对基因突变进行解读并提供后续的诊疗建议,从而为中国前列腺癌患者制定个体化的治疗方案是所有临床医师面临的重要问题。在《中国前列腺癌患者基因检测专家共识(2018年版)》和《中国前列腺癌患者基因检测专家共识(2019年版)》的基础上,中国抗癌协会泌尿男生殖系肿瘤专业委员会及中国临床肿瘤学会前列腺癌专家委员会组织专家结合最新发表的数据形成《中国前列腺癌患者基因检测专家共识(2020年版)》(以下简称《2020年版共识》),以便进一步指导NGS基因检测在前列腺癌诊疗中的规范应用,不断优化患者的个体化诊疗方案,探索并建立以肿瘤生物标志物为引导的临床治疗路径。展开更多
Next-generation sequencing(NGS) technology is capable of sequencing millions or billions of DNA molecules simultaneously.Therefore, it represents a promising tool for the analysis of molecular targets for the initial ...Next-generation sequencing(NGS) technology is capable of sequencing millions or billions of DNA molecules simultaneously.Therefore, it represents a promising tool for the analysis of molecular targets for the initial diagnosis of disease, monitoring of disease progression, and identifying the mechanism of drug resistance. On behalf of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology(CSCO) and the China Actionable Genome Consortium(CAGC), the present expert group hereby proposes advisory guidelines on clinical applications of NGS technology for the analysis of cancer driver genes for precision cancer therapy. This group comprises an assembly of laboratory cancer geneticists, clinical oncologists, bioinformaticians,pathologists, and other professionals. After multiple rounds of discussions and revisions, the expert group has reached a preliminary consensus on the need of NGS in clinical diagnosis, its regulation, and compliance standards in clinical sample collection. Moreover, it has prepared NGS criteria, the sequencing standard operation procedure(SOP), data analysis, report, and NGS platform certification and validation.展开更多
As one of the key technologies in biomedical research,DNA sequencing has not only improved its productivity with an exponential growth rate but also been applied to new areas of application over the past few years.Thi...As one of the key technologies in biomedical research,DNA sequencing has not only improved its productivity with an exponential growth rate but also been applied to new areas of application over the past few years.This is largely due to the advent of newer generations of sequencing platforms,offering ever-faster and cheaper ways to analyze sequences.In our previous review,we looked into technical characteristics of the nextgeneration sequencers and provided prospective insights into their future development.In this article,we present a brief overview of the advantages and shortcomings of key commercially available platforms with a focus on their suitability for a broad range of applications.展开更多
经过30多年的发展,基因测序技术已从最初的Sanger测序发展至当今以单分子测序为特点的测序。早期的Sanger测序可应用于单基因疾病的检测,但其可检测的通量小、速度慢,逐渐被荧光原位杂交(FISH)、比较基因组杂交(CGH)、芯片检测技术等取...经过30多年的发展,基因测序技术已从最初的Sanger测序发展至当今以单分子测序为特点的测序。早期的Sanger测序可应用于单基因疾病的检测,但其可检测的通量小、速度慢,逐渐被荧光原位杂交(FISH)、比较基因组杂交(CGH)、芯片检测技术等取代。下一代测序(nextgeneration sequencing,NGS)技术作为胚胎植入前遗传学诊断(preimplataion genetic dignosis,PGD)的新检测手段,不仅能检测染色体非整倍性、染色体结构异常以及单基因疾病,而且精度更高,弥补了芯片检测易受探针影响的缺陷。新近建立的基于N G S的非整倍体测序与连锁分析(mutated allele revealed by sequencing with aneuploidy and linkage analyses,MARSALA)技术可以同时检测染色体疾病和单基因疾病。本文概述了基因测序技术的发展进程及其在PGD中的应用,介绍了包括近年开发的多重退火环状循环扩增(MALBAC)技术和MARSALA在内的NGS技术应用于PGD的优点和局限。展开更多
BACKGROUND Infections by non-tuberculous mycobacteria(NTM)have become more common in recent years.Mycobacterium canariasense(M.canariasense)was first reported as an opportunistic pathogen in 2004,but there have been v...BACKGROUND Infections by non-tuberculous mycobacteria(NTM)have become more common in recent years.Mycobacterium canariasense(M.canariasense)was first reported as an opportunistic pathogen in 2004,but there have been very few case reports since then.Nocardia is a genus of aerobic and Gram-positive bacilli,and these species are also opportunistic pathogens and in the Mycobacteriales order.Conventional methods for diagnosis of NTM are inefficient.Metagenomic next-generation sequencing(mNGS)can rapidly detect many pathogenic microorganisms,even rare species.Most NTM and Nocardia infections occur in immunocompromised patients with atypical clinical symptoms.There are no previous reports of infection by M.canariasense and Nocardia farcinica(N.farcinica),especially in immunocompetent patients.This case report describes an immunocompetent 52-year-old woman who had overlapping infections of M.canariasense,N.farcinica,and Candida parapsilosis(C.parapsilosis)based on mNGS.CASE SUMMARY A 52-year-old woman presented with a productive cough and chest pain for 2 wk,and recurrent episodes of moderate-grade fever for 1 wk.She received antibiotics for 1 wk at a local hospital,and experienced defervescence,but the productive cough and chest pain persisted.We collected samples of a lung lesion and alveolar lavage fluid for mNGS.The lung tissue was positive for M.canariasense,N.farcinica,and C.parapsilosis,and the alveolar lavage fluid was positive for M.canariasense.The diagnosis was pneumonia,and application of appropriate antibiotic therapy cured the patient.CONCLUSION Etiological diagnosis is critical for patients with infectious diseases.mNGS can identify rare and novel pathogens,and does not require a priori knowledge.展开更多
文摘随着第二代测序(next-generation sequencing,NGS)技术在前列腺癌诊疗中愈加广泛的应用,越来越多的患者能够从前列腺癌精准治疗中获益。美国食品药品管理局(Food and Drug Administration,FDA)已批准多聚腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂用于携带同源重组修复基因突变的转移性去势抵抗性前列腺癌的治疗;而就程序性死亡[蛋白]-1(programmed death-1,PD-1)/程序性死亡[蛋白]配体-1(programmed death ligand-1,PD-L1)抗体等免疫检查点抑制剂而言,错配修复缺陷及高微卫星不稳定型前列腺癌患者能够通过帕博利珠单抗(pembrolizumab)治疗获益。此外,NGS检测对于携带胚系基因突变患者家属肿瘤发病风险的预估也具有重要作用。如何在利用NGS技术精准定位可获益前列腺癌患者的同时避免过度检测,如何在遗传咨询中针对基因突变进行解读并提供后续的诊疗建议,从而为中国前列腺癌患者制定个体化的治疗方案是所有临床医师面临的重要问题。在《中国前列腺癌患者基因检测专家共识(2018年版)》和《中国前列腺癌患者基因检测专家共识(2019年版)》的基础上,中国抗癌协会泌尿男生殖系肿瘤专业委员会及中国临床肿瘤学会前列腺癌专家委员会组织专家结合最新发表的数据形成《中国前列腺癌患者基因检测专家共识(2020年版)》(以下简称《2020年版共识》),以便进一步指导NGS基因检测在前列腺癌诊疗中的规范应用,不断优化患者的个体化诊疗方案,探索并建立以肿瘤生物标志物为引导的临床治疗路径。
基金supported by grants from Guangdong Provincial Key Lab of Translational Medicine in Lung Cancer (Grant No. 2017B030314120)General Research Project of Guangzhou Science and Technology Bureau (Grant No. 201607010391)+1 种基金National Key Research and Development Program of China (Grant No. 2016YFC1303800)Guangdong Provincial Applied S&T R&D Program (Grant No. 2016B020237006)
文摘Next-generation sequencing(NGS) technology is capable of sequencing millions or billions of DNA molecules simultaneously.Therefore, it represents a promising tool for the analysis of molecular targets for the initial diagnosis of disease, monitoring of disease progression, and identifying the mechanism of drug resistance. On behalf of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology(CSCO) and the China Actionable Genome Consortium(CAGC), the present expert group hereby proposes advisory guidelines on clinical applications of NGS technology for the analysis of cancer driver genes for precision cancer therapy. This group comprises an assembly of laboratory cancer geneticists, clinical oncologists, bioinformaticians,pathologists, and other professionals. After multiple rounds of discussions and revisions, the expert group has reached a preliminary consensus on the need of NGS in clinical diagnosis, its regulation, and compliance standards in clinical sample collection. Moreover, it has prepared NGS criteria, the sequencing standard operation procedure(SOP), data analysis, report, and NGS platform certification and validation.
基金This work was supported by the Chinese Academy of Sciences Scientific Research Equipments(Grant No.YZ200823)the Institutional Director’s Initiative Fund awarded to Jun Yu.
文摘As one of the key technologies in biomedical research,DNA sequencing has not only improved its productivity with an exponential growth rate but also been applied to new areas of application over the past few years.This is largely due to the advent of newer generations of sequencing platforms,offering ever-faster and cheaper ways to analyze sequences.In our previous review,we looked into technical characteristics of the nextgeneration sequencers and provided prospective insights into their future development.In this article,we present a brief overview of the advantages and shortcomings of key commercially available platforms with a focus on their suitability for a broad range of applications.
文摘经过30多年的发展,基因测序技术已从最初的Sanger测序发展至当今以单分子测序为特点的测序。早期的Sanger测序可应用于单基因疾病的检测,但其可检测的通量小、速度慢,逐渐被荧光原位杂交(FISH)、比较基因组杂交(CGH)、芯片检测技术等取代。下一代测序(nextgeneration sequencing,NGS)技术作为胚胎植入前遗传学诊断(preimplataion genetic dignosis,PGD)的新检测手段,不仅能检测染色体非整倍性、染色体结构异常以及单基因疾病,而且精度更高,弥补了芯片检测易受探针影响的缺陷。新近建立的基于N G S的非整倍体测序与连锁分析(mutated allele revealed by sequencing with aneuploidy and linkage analyses,MARSALA)技术可以同时检测染色体疾病和单基因疾病。本文概述了基因测序技术的发展进程及其在PGD中的应用,介绍了包括近年开发的多重退火环状循环扩增(MALBAC)技术和MARSALA在内的NGS技术应用于PGD的优点和局限。
基金Supported by The Guangxi TCM Suitable Technology Development and Promotion Project,No.GZSY20-20.
文摘BACKGROUND Infections by non-tuberculous mycobacteria(NTM)have become more common in recent years.Mycobacterium canariasense(M.canariasense)was first reported as an opportunistic pathogen in 2004,but there have been very few case reports since then.Nocardia is a genus of aerobic and Gram-positive bacilli,and these species are also opportunistic pathogens and in the Mycobacteriales order.Conventional methods for diagnosis of NTM are inefficient.Metagenomic next-generation sequencing(mNGS)can rapidly detect many pathogenic microorganisms,even rare species.Most NTM and Nocardia infections occur in immunocompromised patients with atypical clinical symptoms.There are no previous reports of infection by M.canariasense and Nocardia farcinica(N.farcinica),especially in immunocompetent patients.This case report describes an immunocompetent 52-year-old woman who had overlapping infections of M.canariasense,N.farcinica,and Candida parapsilosis(C.parapsilosis)based on mNGS.CASE SUMMARY A 52-year-old woman presented with a productive cough and chest pain for 2 wk,and recurrent episodes of moderate-grade fever for 1 wk.She received antibiotics for 1 wk at a local hospital,and experienced defervescence,but the productive cough and chest pain persisted.We collected samples of a lung lesion and alveolar lavage fluid for mNGS.The lung tissue was positive for M.canariasense,N.farcinica,and C.parapsilosis,and the alveolar lavage fluid was positive for M.canariasense.The diagnosis was pneumonia,and application of appropriate antibiotic therapy cured the patient.CONCLUSION Etiological diagnosis is critical for patients with infectious diseases.mNGS can identify rare and novel pathogens,and does not require a priori knowledge.
