Molecular Oncology最新文献_第2页

Levels of circulating tumor DNA correlate with tumor volume in gastro-intestinal stromal tumors: an exploratory long-term follow-up study. 循环肿瘤 DNA 水平与胃肠道间质瘤肿瘤体积的相关性：一项探索性长期随访研究。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-05-24 DOI: 10.1002/1878-0261.13644

Roos F Bleckman, Charlotte M S C Haag, Naomi Rifaela, Gerrieke Beukema, Ron H J Mathijssen, Neeltje Steeghs, Hans Gelderblom, Ingrid M E Desar, Arjen Cleven, Arja Ter Elst, Ed Schuuring, Anna K L Reyners

{"title":"Levels of circulating tumor DNA correlate with tumor volume in gastro-intestinal stromal tumors: an exploratory long-term follow-up study.","authors":"Roos F Bleckman, Charlotte M S C Haag, Naomi Rifaela, Gerrieke Beukema, Ron H J Mathijssen, Neeltje Steeghs, Hans Gelderblom, Ingrid M E Desar, Arjen Cleven, Arja Ter Elst, Ed Schuuring, Anna K L Reyners","doi":"10.1002/1878-0261.13644","DOIUrl":"10.1002/1878-0261.13644","url":null,"abstract":"Patients with gastro-intestinal stromal tumors (GISTs) undergoing tyrosine kinase inhibitor therapy are monitored with regular computed tomography (CT) scans, exposing patients to cumulative radiation. This exploratory study aimed to evaluate circulating tumor DNA (ctDNA) testing to monitor treatment response and compare changes in ctDNA levels with RECIST 1.1 and total tumor volume measurements. Between 2014 and 2021, six patients with KIT proto-oncogene, receptor tyrosine kinase (KIT) exon-11-mutated GIST from whom long-term plasma samples were collected prospectively were included in the study. ctDNA levels of relevant plasma samples were determined using the KIT exon 11 digital droplet PCR drop-off assay. Tumor volume measurements were performed using a semi-automated approach. In total, 94 of 130 clinically relevant ctDNA samples were analyzed. Upon successful treatment response, ctDNA became undetectable in all patients. At progressive disease, ctDNA was detectable in five out of six patients. Higher levels of ctDNA correlated with larger tumor volumes. Undetectable ctDNA at the time of progressive disease on imaging was consistent with lower tumor volumes compared to those with detectable ctDNA. In summary, ctDNA levels seem to correlate with total tumor volume at the time of progressive disease. Our exploratory study shows promise for including ctDNA testing in treatment follow-up.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2658-2667"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cell-free DNA from ascites identifies clinically relevant variants and tumour evolution in patients with advanced ovarian cancer. 从腹水中提取的无细胞 DNA 可识别晚期卵巢癌患者的临床相关变异和肿瘤演变。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-08-08 DOI: 10.1002/1878-0261.13710

Bonnita Werner, Elyse Powell, Jennifer Duggan, Marilisa Cortesi, Yeh Chen Lee, Vivek Arora, Ramanand Athavale, Michael Dean, Kristina Warton, Caroline E Ford

{"title":"Cell-free DNA from ascites identifies clinically relevant variants and tumour evolution in patients with advanced ovarian cancer.","authors":"Bonnita Werner, Elyse Powell, Jennifer Duggan, Marilisa Cortesi, Yeh Chen Lee, Vivek Arora, Ramanand Athavale, Michael Dean, Kristina Warton, Caroline E Ford","doi":"10.1002/1878-0261.13710","DOIUrl":"10.1002/1878-0261.13710","url":null,"abstract":"The emergence of targeted therapies has transformed ovarian cancer treatment. However, biomarker profiling for precision medicine is limited by access to quality, tumour-enriched tissue samples. The use of cell-free DNA (cfDNA) in ascites presents a potential solution to this challenge. In this study, next-generation sequencing was performed on ascites-derived cfDNA samples (26 samples from 15 human participants with ovarian cancer), with matched DNA from ascites-derived tumour cells (n = 5) and archived formalin-fixed paraffin-embedded (FFPE) tissue (n = 5). Similar tumour purity and variant detection were achieved with cfDNA compared to FFPE and ascites cell DNA. Analysis of large-scale genomic alterations, loss of heterozygosity and tumour mutation burden identified six cases of high genomic instability (including four with pathogenic BRCA1 and BRCA2 mutations). Copy number profiles and subclone prevalence changed between sequential ascites samples, particularly in a case where deletions and chromothripsis in Chr17p13.1 and Chr8q resulted in changes in clinically relevant TP53 and MYC variants over time. Ascites cfDNA identified clinically actionable information, concordant to tissue biopsies, enabling opportunistic molecular profiling. This advocates for analysis of ascites cfDNA in lieu of accessing tumour tissue via biopsy.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2668-2683"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141902351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transformer-based representation learning and multiple-instance learning for cancer diagnosis exclusively from raw sequencing fragments of bisulfite-treated plasma cell-free DNA. 基于变压器的表征学习和多实例学习，可完全从经亚硫酸氢盐处理的无血浆细胞 DNA 的原始测序片段中进行癌症诊断。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-10-08 DOI: 10.1002/1878-0261.13745

Jilei Liu, Hongru Shen, Yichen Yang, Meng Yang, Qiang Zhang, Kexin Chen, Xiangchun Li

{"title":"Transformer-based representation learning and multiple-instance learning for cancer diagnosis exclusively from raw sequencing fragments of bisulfite-treated plasma cell-free DNA.","authors":"Jilei Liu, Hongru Shen, Yichen Yang, Meng Yang, Qiang Zhang, Kexin Chen, Xiangchun Li","doi":"10.1002/1878-0261.13745","DOIUrl":"10.1002/1878-0261.13745","url":null,"abstract":"Early cancer diagnosis from bisulfite-treated cell-free DNA (cfDNA) fragments requires tedious data analytical procedures. Here, we present a deep-learning-based approach for early cancer interception and diagnosis (DECIDIA) that can achieve accurate cancer diagnosis exclusively from bisulfite-treated cfDNA sequencing fragments. DECIDIA relies on transformer-based representation learning of DNA fragments and weakly supervised multiple-instance learning for classification. We systematically evaluate the performance of DECIDIA for cancer diagnosis and cancer type prediction on a curated dataset of 5389 samples that consist of colorectal cancer (CRC; n = 1574), hepatocellular cell carcinoma (HCC; n = 1181), lung cancer (n = 654), and non-cancer control (n = 1980). DECIDIA achieved an area under the receiver operating curve (AUROC) of 0.980 (95% CI, 0.976-0.984) in 10-fold cross-validation settings on the CRC dataset by differentiating cancer patients from cancer-free controls, outperforming benchmarked methods that are based on methylation intensities. Noticeably, DECIDIA achieved an AUROC of 0.910 (95% CI, 0.896-0.924) on the externally independent HCC testing set in distinguishing HCC patients from cancer-free controls, although there was no HCC data used in model development. In the settings of cancer-type classification, we observed that DECIDIA achieved a micro-average AUROC of 0.963 (95% CI, 0.960-0.966) and an overall accuracy of 82.8% (95% CI, 81.8-83.9). In addition, we distilled four sequence signatures from the raw sequencing reads that exhibited differential patterns in cancer versus control and among different cancer types. Our approach represents a new paradigm towards eliminating the tedious data analytical procedures for liquid biopsy that uses bisulfite-treated cfDNA methylome.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2755-2769"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Minimally invasive biopsy-based diagnostics in support of precision cancer medicine. 基于活检的微创诊断，支持精准癌症医疗。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-03-22 DOI: 10.1002/1878-0261.13640

Bo Franzén, Gert Auer, Rolf Lewensohn

{"title":"Minimally invasive biopsy-based diagnostics in support of precision cancer medicine.","authors":"Bo Franzén, Gert Auer, Rolf Lewensohn","doi":"10.1002/1878-0261.13640","DOIUrl":"10.1002/1878-0261.13640","url":null,"abstract":"Precision cancer medicine (PCM) to support the treatment of solid tumors requires minimally invasive diagnostics. Here, we describe the development of fine-needle aspiration biopsy-based (FNA) molecular cytology which will be increasingly important in diagnostics and adaptive treatment. We provide support for FNA-based molecular cytology having a significant potential to replace core needle biopsy (CNB) as a patient-friendly potent technique for tumor sampling for various tumor types. This is not only because CNB is a more traumatic procedure and may be associated with more complications compared to FNA-based sampling, but also due to the recently developed molecular methods used with FNA. Recent studies show that image-guided FNA in combination with ultrasensitive molecular methods also offers opportunities for characterization of the tumor microenvironment which can aid therapeutic decisions. Here we provide arguments for an increased implementation of molecular FNA-based sampling as a patient-friendly diagnostic method, which may, due to its repeatability, facilitate regular sampling that is needed during different treatment lines, to provide tumor information, supporting treatment decisions, shortening lead times in healthcare, and benefit healthcare economics.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2612-2628"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140194185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Shifting the paradigm in personalized cancer care through next-generation therapeutics and computational pathology. 通过新一代疗法和计算病理学改变个性化癌症治疗模式。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-08-30 DOI: 10.1002/1878-0261.13724

Jorge S Reis-Filho, Maurizio Scaltriti, Ansh Kapil, Hadassah Sade, Susan Galbraith

{"title":"Shifting the paradigm in personalized cancer care through next-generation therapeutics and computational pathology.","authors":"Jorge S Reis-Filho, Maurizio Scaltriti, Ansh Kapil, Hadassah Sade, Susan Galbraith","doi":"10.1002/1878-0261.13724","DOIUrl":"10.1002/1878-0261.13724","url":null,"abstract":"The incorporation of novel therapeutic agents such as antibody-drug conjugates, radio-conjugates, T-cell engagers, and chimeric antigen receptor cell therapies represents a paradigm shift in oncology. Cell-surface target quantification, quantitative assessment of receptor internalization, and changes in the tumor microenvironment (TME) are essential variables in the development of biomarkers for patient selection and therapeutic response. Assessing these parameters requires capabilities that transcend those of traditional biomarker approaches based on immunohistochemistry, in situ hybridization and/or sequencing assays. Computational pathology is emerging as a transformative solution in this new therapeutic landscape, enabling detailed assessment of not only target presence, expression levels, and intra-tumor distribution but also of additional phenotypic features of tumor cells and their surrounding TME. Here, we delineate the pivotal role of computational pathology in enhancing the efficacy and specificity of these advanced therapeutics, underscoring the integration of novel artificial intelligence models that promise to revolutionize biomarker discovery and drug development.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2607-2611"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142109591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Proteomics of tumor and serum samples from isocitrate dehydrogenase-wildtype glioblastoma patients: is the detoxification of reactive oxygen species associated with shorter survival? 异柠檬酸脱氢酶野生型胶质母细胞瘤患者肿瘤和血清样本的蛋白质组学研究：活性氧的解毒与生存期缩短有关吗？

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-05-27 DOI: 10.1002/1878-0261.13668

Anne Clavreul, Catherine Guette, Hamza Lasla, Audrey Rousseau, Odile Blanchet, Cécile Henry, Alice Boissard, Mathilde Cherel, Pascal Jézéquel, François Guillonneau, Philippe Menei, Jean-Michel Lemée

{"title":"Proteomics of tumor and serum samples from isocitrate dehydrogenase-wildtype glioblastoma patients: is the detoxification of reactive oxygen species associated with shorter survival?","authors":"Anne Clavreul, Catherine Guette, Hamza Lasla, Audrey Rousseau, Odile Blanchet, Cécile Henry, Alice Boissard, Mathilde Cherel, Pascal Jézéquel, François Guillonneau, Philippe Menei, Jean-Michel Lemée","doi":"10.1002/1878-0261.13668","DOIUrl":"10.1002/1878-0261.13668","url":null,"abstract":"Proteomics has been little used for the identification of novel prognostic and/or therapeutic markers in isocitrate dehydrogenase (IDH)-wildtype glioblastoma (GB). In this study, we analyzed 50 tumor and 30 serum samples from short- and long-term survivors of IDH-wildtype GB (STS and LTS, respectively) by data-independent acquisition mass spectrometry (DIA-MS)-based proteomics, with the aim of identifying such markers. DIA-MS identified 5422 and 826 normalized proteins in tumor and serum samples, respectively, with only three tumor proteins and 26 serum proteins displaying significant differential expression between the STS and LTS groups. These dysregulated proteins were principally associated with the detoxification of reactive oxygen species (ROS). In particular, GB patients in the STS group had high serum levels of malate dehydrogenase 1 (MDH1) and ribonuclease inhibitor 1 (RNH1) and low tumor levels of fatty acid-binding protein 7 (FABP7), which may have enabled them to maintain low ROS levels, counteracting the effects of the first-line treatment with radiotherapy plus concomitant and adjuvant temozolomide. A blood score built on the levels of MDH1 and RNH1 expression was found to be an independent prognostic factor for survival based on the serum proteome data for a cohort of 96 IDH-wildtype GB patients. This study highlights the utility of circulating MDH1 and RNH1 biomarkers for determining the prognosis of patients with IDH-wildtype GB. Furthermore, the pathways driven by these biomarkers, and the tumor FABP7 pathway, may constitute promising therapeutic targets for blocking ROS detoxification to overcome resistance to chemoradiotherapy in potential GB STS.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2783-2800"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141158267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Improving platelet-RNA-based diagnostics: a comparative analysis of machine learning models for cancer detection and multiclass classification. 改进基于血小板-RNA 的诊断：癌症检测和多类分类机器学习模型的比较分析。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-06-17 DOI: 10.1002/1878-0261.13689

Maksym A Jopek, Krzysztof Pastuszak, Michał Sieczczyński, Sebastian Cygert, Anna J Żaczek, Matthew T Rondina, Anna Supernat

{"title":"Improving platelet-RNA-based diagnostics: a comparative analysis of machine learning models for cancer detection and multiclass classification.","authors":"Maksym A Jopek, Krzysztof Pastuszak, Michał Sieczczyński, Sebastian Cygert, Anna J Żaczek, Matthew T Rondina, Anna Supernat","doi":"10.1002/1878-0261.13689","DOIUrl":"10.1002/1878-0261.13689","url":null,"abstract":"Liquid biopsy demonstrates excellent potential in patient management by providing a minimally invasive and cost-effective approach to detecting and monitoring cancer, even at its early stages. Due to the complexity of liquid biopsy data, machine-learning techniques are increasingly gaining attention in sample analysis, especially for multidimensional data such as RNA expression profiles. Yet, there is no agreement in the community on which methods are the most effective or how to process the data. To circumvent this, we performed a large-scale study using various machine-learning techniques. First, we took a closer look at existing datasets and filtered out some patients to assert data collection quality. The final data collection included platelet RNA samples acquired from 1397 cancer patients (17 types of cancer) and 354 asymptomatic, presumed healthy, donors. Then, we assessed an array of different machine-learning models and techniques (e.g., feature selection of RNA transcripts) in pan-cancer detection and multiclass classification. Our results show that simple logistic regression performs the best, reaching a 68% cancer detection rate at a 99% specificity level, and multiclass classification accuracy of 79.38% when distinguishing between five cancer types. In summary, by revisiting classical machine-learning models, we have exceeded the previously used method by 5% and 9.65% in cancer detection and multiclass classification, respectively. To ease further research, we open-source our code and data processing pipelines (https://gitlab.com/jopekmaksym/improving-platelet-rna-based-diagnostics), which we hope will serve the community as a strong baseline.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2743-2754"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Circulating cell-free DNA methylation-based multi-omics analysis allows early diagnosis of pancreatic ductal adenocarcinoma. 基于循环无细胞DNA甲基化的多组学分析可早期诊断胰腺导管腺癌

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-04-01 DOI: 10.1002/1878-0261.13643

Guochao Zhao, Ruijingfang Jiang, Ying Shi, Suizhi Gao, Dansong Wang, Zhilong Li, Yuhong Zhou, Jianlong Sun, Wenchuan Wu, Jiaxi Peng, Tiantao Kuang, Yefei Rong, Jie Yuan, Shida Zhu, Gang Jin, Yuying Wang, Wenhui Lou

{"title":"Circulating cell-free DNA methylation-based multi-omics analysis allows early diagnosis of pancreatic ductal adenocarcinoma.","authors":"Guochao Zhao, Ruijingfang Jiang, Ying Shi, Suizhi Gao, Dansong Wang, Zhilong Li, Yuhong Zhou, Jianlong Sun, Wenchuan Wu, Jiaxi Peng, Tiantao Kuang, Yefei Rong, Jie Yuan, Shida Zhu, Gang Jin, Yuying Wang, Wenhui Lou","doi":"10.1002/1878-0261.13643","DOIUrl":"10.1002/1878-0261.13643","url":null,"abstract":"Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer with a 5-year survival rate of 7.2% in China. However, effective approaches for diagnosis of PDAC are limited. Tumor-originating genomic and epigenomic aberration in circulating free DNA (cfDNA) have potential as liquid biopsy biomarkers for cancer diagnosis. Our study aims to assess the feasibility of cfDNA-based liquid biopsy assay for PDAC diagnosis. In this study, we performed parallel genomic and epigenomic profiling of plasma cfDNA from Chinese PDAC patients and healthy individuals. Diagnostic models were built to distinguish PDAC patients from healthy individuals. Cancer-specific changes in cfDNA methylation landscape were identified, and a diagnostic model based on six methylation markers achieved high sensitivity (88.7% for overall cases and 78.0% for stage I patients) and specificity (96.8%), outperforming the mutation-based model significantly. Moreover, the combination of the methylation-based model with carbohydrate antigen 19-9 (CA19-9) levels further improved the performance (sensitivity: 95.7% for overall cases and 95.5% for stage I patients; specificity: 93.3%). In conclusion, our findings suggest that both methylation-based and integrated liquid biopsy assays hold promise as non-invasive tools for detection of PDAC.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2801-2813"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140336240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Where do we stand with screening for colorectal cancer and advanced adenoma based on serum protein biomarkers? A systematic review. 基于血清蛋白生物标志物的结直肠癌和晚期腺瘤筛查进展如何？系统综述。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-09-30 DOI: 10.1002/1878-0261.13734

Adrien Grancher, Steven Cuissy, Hélène Girot, André Gillibert, Frédéric Di Fiore, Lydia Guittet

{"title":"Where do we stand with screening for colorectal cancer and advanced adenoma based on serum protein biomarkers? A systematic review.","authors":"Adrien Grancher, Steven Cuissy, Hélène Girot, André Gillibert, Frédéric Di Fiore, Lydia Guittet","doi":"10.1002/1878-0261.13734","DOIUrl":"10.1002/1878-0261.13734","url":null,"abstract":"Colorectal cancer (CRC) screening has been proven to reduce both mortality and the incidence of this disease. Most CRC screening programs are based on fecal immunochemical tests (FITs), which have a low participation rate. Searching for blood protein biomarkers can lead to the development of a more accepted screening test. The aim of this systematic review was to compare the diagnostic potential of the most promising serum protein biomarkers. A systematic review based on PRISMA guidelines was conducted in the PubMed and Web of Science databases between January 2010 and December 2023. Studies assessing blood protein biomarkers for CRC screening were included. The sensitivity, specificity, and area under the ROC curve of each biomarker were collected. Among 4685 screened studies, 94 were considered for analysis. Most of them were case-control studies, leading to an overestimation of the performance of candidate biomarkers. The performance of no protein biomarker or combination of biomarkers appears to match that of the FIT. Studies with a suitable design and population, testing new assay techniques, or based on algorithms combining FIT with serum tests are needed.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2629-2648"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection. 大肠癌锯齿状通路的血清 DNA 甲基组实现了无创检测。

IF 6.6 2区医学

Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-01-10 DOI: 10.1002/1878-0261.13573

María Gallardo-Gómez, Lara Costas-Ríos, Carlos A Garcia-Prieto, Lara Álvarez-Rodríguez, Luis Bujanda, Maialen Barrero, Antoni Castells, Francesc Balaguer, Rodrigo Jover, Manel Esteller, Antoni Tardío Baiges, Joaquín González-Carreró Fojón, Joaquín Cubiella, Loretta De Chiara

{"title":"Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection.","authors":"María Gallardo-Gómez, Lara Costas-Ríos, Carlos A Garcia-Prieto, Lara Álvarez-Rodríguez, Luis Bujanda, Maialen Barrero, Antoni Castells, Francesc Balaguer, Rodrigo Jover, Manel Esteller, Antoni Tardío Baiges, Joaquín González-Carreró Fojón, Joaquín Cubiella, Loretta De Chiara","doi":"10.1002/1878-0261.13573","DOIUrl":"10.1002/1878-0261.13573","url":null,"abstract":"The clinical relevance of the colorectal cancer serrated pathway is evident, but the screening of serrated lesions remains challenging. We aimed to characterize the serum methylome of the serrated pathway and to evaluate circulating cell-free DNA (cfDNA) methylomes as a potential source of biomarkers for the non-invasive detection of serrated lesions. We collected serum samples from individuals with serrated adenocarcinoma (SAC), traditional serrated adenomas, sessile serrated lesions, hyperplastic polyps and individuals with no colorectal findings. First, we quantified cfDNA methylation with the MethylationEPIC array. Then, we compared the methylation profiles with tissue and serum datasets. Finally, we evaluated the utility of serum cfDNA methylation biomarkers. We identified a differential methylation profile able to distinguish high-risk serrated lesions from no serrated neoplasia, showing concordance with tissue methylation from SAC and sessile serrated lesions. Serum methylation profiles are pathway-specific, clearly separating serrated lesions from conventional adenomas. The combination of ninjurin 2 (NINJ2) and glutamate-rich 1 (ERICH1) methylation discriminated high-risk serrated lesions and SAC with 91.4% sensitivity (64.4% specificity), while zinc finger protein 718 (ZNF718) methylation reported 100% sensitivity for the detection of SAC (96% specificity). This is the first study exploring the serum methylome of serrated lesions. Differential methylation of cfDNA can be used for the non-invasive detection of colorectal serrated lesions.","PeriodicalId":18764,"journal":{"name":"Molecular Oncology","volume":" ","pages":"2696-2713"},"PeriodicalIF":6.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11547225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0