Scandinavian journal of clinical and laboratory investigation. Supplementum最新文献

Biomarkers along the continuum of care in lung cancer. 肺癌连续治疗过程中的生物标志物。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 DOI: 10.1080/00365513.2016.1208446

Stefan Holdenrieder

{"title":"Biomarkers along the continuum of care in lung cancer.","authors":"Stefan Holdenrieder","doi":"10.1080/00365513.2016.1208446","DOIUrl":"https://doi.org/10.1080/00365513.2016.1208446","url":null,"abstract":"Blood-based biomarkers are valuable diagnostic tools for the management of lung cancer patients. They support not only differential diagnosis and histological subtyping, but are also applied for estimation of prognosis, stratification for specific therapies, monitoring of therapy response, surveillance monitoring and early detection of residual or progressive disease. Early diagnosis of lung cancer in high risk populations (screening) is a promising future indication but poses high medical and economic challenges to marker performance. The five mostly used classical 'tumor markers' show characteristic profiles of sensitivity and specificity for non-small cell lung cancer (NSCLC) like cytokeratin 19-fragments (CYFRA 21-1), carcino-embryonic antigen (CEA) and squamous cancer cell antigen (SCCA) as well as for small cell lung cancer (SCLC) like progastrin-releasing peptide (ProGRP) and neuron-specific enolase (NSE). Combined use and pattern recognition approaches enable highly accurate diagnosis, subtyping and therapy monitoring. For the interpretation of serial measurements on an individual level, marker-specific algorithms have to be developed. So-called companion diagnostics identify druggable molecular changes in signaling pathways of tumor tissue that can be addressed by targeted therapies. New highly sensitive technologies enable the convenient and serial molecular characterization on circulating tumor DNA (ctDNA) in the blood, too. This approach is helpful when biopsies are not available and to overcome tumor molecular heterogeneity and plasticity. As only a portion of patients have such druggable molecular changes, future strategies will imply the combined use of classical and new ctDNA-based biomarkers to optimize the management of lung cancer patients during the course of disease. ","PeriodicalId":76518,"journal":{"name":"Scandinavian journal of clinical and laboratory investigation. Supplementum","volume":"245 ","pages":"S40-5"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/00365513.2016.1208446","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34320870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 36

Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine. 下一代癌症测序:精准癌症医学的机遇与挑战。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-08-17 DOI: 10.1080/00365513.2016.1210331

Carmela Paolillo, Eric Londin, Paolo Fortina

{"title":"Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine.","authors":"Carmela Paolillo, Eric Londin, Paolo Fortina","doi":"10.1080/00365513.2016.1210331","DOIUrl":"https://doi.org/10.1080/00365513.2016.1210331","url":null,"abstract":"Over the past decade, testing the genes of patients and their specific cancer types has become standardized practice in medical oncology since somatic mutations, changes in gene expression and epigenetic modifications are all hallmarks of cancer. However, while cancer genetic assessment has been limited to single biomarkers to guide the use of therapies, improvements in nucleic acid sequencing technologies and implementation of different genome analysis tools have enabled clinicians to detect these genomic alterations and identify functional and disease-associated genomic variants. Next-generation sequencing (NGS) technologies have provided clues about therapeutic targets and genomic markers for novel clinical applications when standard therapy has failed. While Sanger sequencing, an accurate and sensitive approach, allows for the identification of potential novel variants, it is however limited by the single amplicon being interrogated. Similarly, quantitative and qualitative profiling of gene expression changes also represents a challenge for the cancer field. Both RT-PCR and microarrays are efficient approaches, but are limited to the genes present on the array or being assayed. This leaves vast swaths of the transcriptome, including non-coding RNAs and other features, unexplored. With the advent of the ability to collect and analyze genomic sequence data in a timely fashion and at an ever-decreasing cost, many of these limitations have been overcome and are being incorporated into cancer research and diagnostics giving patients and clinicians new hope for targeted and personalized treatment. Below we highlight the various applications of next-generation sequencing in precision cancer medicine. ","PeriodicalId":76518,"journal":{"name":"Scandinavian journal of clinical and laboratory investigation. Supplementum","volume":"245 ","pages":"S84-91"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/00365513.2016.1210331","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34665226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

The pathway to clinical use of a cancer biomarker. 癌症生物标志物的临床应用途径。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-13 DOI: 10.1080/00365513.2016.1206441

N Lynn Henry

引用次数: 4

Questions and Answers. 问题和答案。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-20 DOI: 10.1080/00365513.2016.1210324

Joseph Lopez, Leslie C Lai, Anders Kallner

引用次数: 0

The 15th Bergmeyer Conference. 第15届伯格迈耶会议。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-19 DOI: 10.1080/00365513.2016.1206432

Ian S Young, Philippe Gillery

引用次数: 0

Highlight on DPYD gene polymorphisms and treatment by capecitabine (.). 重点关注DPYD基因多态性和卡培他滨治疗(.)。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-25 DOI: 10.1080/00365513.2016.1208438

Gérard Milano

{"title":"Highlight on DPYD gene polymorphisms and treatment by capecitabine (.).","authors":"Gérard Milano","doi":"10.1080/00365513.2016.1208438","DOIUrl":"https://doi.org/10.1080/00365513.2016.1208438","url":null,"abstract":"Background: Sequencing of DPYD exome was conducted in a prospective cohort of advanced breast cancer patients receiving capecitabine.Methods: A total of 243 patients were analyzed. Digestive, neurologic and hematotoxicity over cycles 1-2 showed 10.3% G3 and 2.1% G4, including one toxic death. DPYD exome, flanking intronic regions (20 bp), 3'UTR and part of 5'UTR (500 bp) were sequenced on MiSeq Illumina (Integragen, 97% coverage, HWE checked).Results: In total, 48 SNPs were identified: three in 3'UTR, 19 in coding regions (four synonymous including E412E; 15 missenses including D949V, V732I, R592W, I560S, I543V, S534N, S492L, M406I, D342G, M166V, T65M, C29R), 19 in flanking intronic regions (including *2A) and seven in 5'UTR. In total, 11 SNPs have not been previously described, including three missense variations each heterozygous in three separate patients: R696H, F100L and A26T. The patient with a toxic death carried one D949V allele. The three consensual variants *2A, D949V and I560S were carried by seven patients (heterozygous). Analysis of consensual variants showed that they were associated with G3-4 toxicity (OR = 21.0, sensitivity 16.7%) but not with G4 toxicity. Adding the variants previously associated with DPD deficiency in vitro, i.e. R592W, S492L and D342N/G, increased sensitivity on G3-4 (23.3%, OR = 21.1) and was predictive of G4 toxicity (sensitivity 40%, OR = 19.0). Of note, adding the new F100L variant further improved predictivity of genotyping on G4 toxicity (sensitivity 60%, OR = 42.8).Conclusions: Present data establish the impact of consensual variants on capecitabine toxicity and reveal the existence of a novel DPYD variant, F100L, associated with G4 toxicity.","PeriodicalId":76518,"journal":{"name":"Scandinavian journal of clinical and laboratory investigation. Supplementum","volume":"245 ","pages":"S30-3"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/00365513.2016.1208438","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34311090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Budget impact and cost-effectiveness: can we afford precision medicine in oncology? 预算影响和成本效益:我们能负担得起肿瘤精准医疗吗?

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-18 DOI: 10.1080/00365513.2016.1206437

Brett Doble

{"title":"Budget impact and cost-effectiveness: can we afford precision medicine in oncology?","authors":"Brett Doble","doi":"10.1080/00365513.2016.1206437","DOIUrl":"https://doi.org/10.1080/00365513.2016.1206437","url":null,"abstract":"Over the past decade there have been remarkable advancements in the understanding of the molecular underpinnings of malignancy. Methods of testing capable of elucidating patients' molecular profiles are now readily available and there is an increased desire to incorporate the information derived from such tests into treatment selection for cancer patients. This has led to more appropriate application of existing treatments as well as the development of a number of innovative and highly effective treatments or what is known collectively as precision medicine. The impact that precision medicine will have on health outcomes is uncertain, as are the costs it will incur. There is, therefore, a need to develop economic evidence and appropriate methods of evaluation to support its implementation to ensure the resources allocated to these approaches are affordable and offer value for money. The market for precision medicine in oncology continues to rapidly expand, placing an increased pressure on reimbursement decision-makers to consider the value and opportunity cost of funding such approaches to care. The benefits of molecular testing can be complex and difficult to evaluate given currently available economic methods, potentially causing a distorted appreciation of their value. Funding decisions of precision medicine will also have far-reaching implications, requiring the consideration of both patient and public perspectives in decision-making. Recommendations to improve the value proposition of precision medicine are, therefore, provided with the hopes of facilitating a better understanding of its impact on outcomes and the overall health budget. ","PeriodicalId":76518,"journal":{"name":"Scandinavian journal of clinical and laboratory investigation. Supplementum","volume":"245 ","pages":"S6-S11"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/00365513.2016.1206437","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34566602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

The potential of miRNAs for diagnosis, treatment and monitoring of breast cancer. mirna在乳腺癌诊断、治疗和监测方面的潜力。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-19 DOI: 10.1080/00365513.2016.1208444

Gloria Bertoli, Claudia Cava, Isabella Castiglioni

引用次数: 24

The evolving potential of companion diagnostics. 伴随诊断的发展潜力。

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-19 DOI: 10.1080/00365513.2016.1206444

Joseph D Khoury

引用次数: 9

Risk prediction in Barrett's esophagus - aspects of a combination of molecular and epidemiologic biomarkers reflecting alterations of the microenvironment. 巴雷特食管的风险预测——反映微环境改变的分子和流行病学生物标志物的结合

Scandinavian journal of clinical and laboratory investigation. Supplementum Pub Date : 2016-01-01 Epub Date: 2016-07-28 DOI: 10.1080/00365513.2016.1210327

Anna K Brandtner, Michael Quante

{"title":"Risk prediction in Barrett's esophagus - aspects of a combination of molecular and epidemiologic biomarkers reflecting alterations of the microenvironment.","authors":"Anna K Brandtner, Michael Quante","doi":"10.1080/00365513.2016.1210327","DOIUrl":"https://doi.org/10.1080/00365513.2016.1210327","url":null,"abstract":"Barrett's esophagus (BE) is a chronic, metaplastic lesion of the esophagus and the only known precursor of esophageal adenocarcinoma. The identification of risk factors to assess the risk for BE and their correspondence with hallmarks of malignant progression for early stratification purposes is critically needed. Data legitimate the assumption that aside of reflux symptoms and related conditions, also demographic and environmental factors are thought to be associated with the risk for BE and its progression to esophageal adenocarcinoma. Molecular biomarkers and inflammatory mechanisms are subjects of intensive research and dispone of promising features regarding risk assessment especially for progressive BE. The amount of investigated epidemiologic factors, as well as discovered biomarkers gets confusingly large. Despite the recognized potential relevance of environmental and molecular factors, the efforts to date have resulted in moderately applicable risk estimates. More prospective data is needed to allow an imputation of the mostly retrospectively assessed factors to reappraise their meaningfulness in risk prediction approaches. ","PeriodicalId":76518,"journal":{"name":"Scandinavian journal of clinical and laboratory investigation. Supplementum","volume":"245 ","pages":"S63-9"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/00365513.2016.1210327","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34602092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1