Pub Date : 2024-05-01Epub Date: 2024-05-06DOI: 10.1080/14737159.2024.2348676
Calogero Ciulla, Claudio Luchini
Introduction: A marked histomolecular heterogeneity characterizes pancreatic cancer. Thus, different tumor histologies with divergent genomic profiles exist within the same category.
Areas covered: Using data from PubMed, SCOPUS, and Embase (last search date: 04/04/2024), this expert-based, narrative review presents and discusses the essential molecular determinants of biological aggressiveness and poor prognosis in pancreatic cancer. First, KRAS mutation still represents one of the most critical difficulties in treating pancreatic cancers. In this district, it is mutated in > 90% of malignant tumors. Notably, actionable alterations for molecular-based therapies are typically lacking in KRAS-mutated pancreatic cancer. Furthermore, transcriptome-based studies clarified that the squamous phenotype is characterized by poorer prognosis and response to standard chemotherapy. We also discuss molecular biomarkers related to dismal prognosis in specific subsets of pancreatic cancer, such as SMAD4 in signet-ring cell carcinoma and TP53 in invasive cancers derived from intraductal tubulopapillary neoplasms.
Expert opinion: The identification of the subgroups of pancreatic cancer with particularly unfavorable prognoses is a critical step for addressing specific research efforts. In addition to implementing and strengthening current precision oncology strategies, the decisive step for improving the survival of patients affected by pancreatic cancer must pass through targeting the KRAS gene.
{"title":"Genomic determinants of biological aggressiveness and poor prognosis of pancreatic cancers: <i>KRAS</i> and beyond.","authors":"Calogero Ciulla, Claudio Luchini","doi":"10.1080/14737159.2024.2348676","DOIUrl":"10.1080/14737159.2024.2348676","url":null,"abstract":"<p><strong>Introduction: </strong>A marked histomolecular heterogeneity characterizes pancreatic cancer. Thus, different tumor histologies with divergent genomic profiles exist within the same category.</p><p><strong>Areas covered: </strong>Using data from PubMed, SCOPUS, and Embase (last search date: 04/04/2024), this expert-based, narrative review presents and discusses the essential molecular determinants of biological aggressiveness and poor prognosis in pancreatic cancer. First, <i>KRAS</i> mutation still represents one of the most critical difficulties in treating pancreatic cancers. In this district, it is mutated in > 90% of malignant tumors. Notably, actionable alterations for molecular-based therapies are typically lacking in <i>KRAS</i>-mutated pancreatic cancer. Furthermore, transcriptome-based studies clarified that the squamous phenotype is characterized by poorer prognosis and response to standard chemotherapy. We also discuss molecular biomarkers related to dismal prognosis in specific subsets of pancreatic cancer, such as <i>SMAD4</i> in signet-ring cell carcinoma and <i>TP53</i> in invasive cancers derived from intraductal tubulopapillary neoplasms.</p><p><strong>Expert opinion: </strong>The identification of the subgroups of pancreatic cancer with particularly unfavorable prognoses is a critical step for addressing specific research efforts. In addition to implementing and strengthening current precision oncology strategies, the decisive step for improving the survival of patients affected by pancreatic cancer must pass through targeting the <i>KRAS</i> gene.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.
Research design and methods: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.
Results: The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.
Conclusions: NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.
{"title":"Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.","authors":"Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong","doi":"10.1080/14737159.2024.2333951","DOIUrl":"10.1080/14737159.2024.2333951","url":null,"abstract":"<p><strong>Background: </strong>Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.</p><p><strong>Research design and methods: </strong>In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.</p><p><strong>Results: </strong>The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.</p><p><strong>Conclusions: </strong>NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-05-17DOI: 10.1080/14737159.2024.2353700
Junhui Han, Jing Liang, Wenqian Zhou, Man Zhang, Tianbo Jin
Background: Breast cancer (BC) is the leading cause of cancer death among women worldwide. The nudix hydrolase 17 (NUDT17) may play notable roles in cancer growth and metastasis. In this study, we explored the importance of NUDT17 gene polymorphism in patients with BC.
Methods: In our study, 563 BC patients and 552 healthy controls participated. We used logistic regression analysis to calculate odds ratios (OR) and 95% confidence intervals (CI), and multifactor dimension reduction (MDR) analysis of SNP-SNP interactions. Finally, UALCAN and THPA databases were used for bioinformatics analysis.
Results: The rs9286836 G allele was associated with a decreased the BC risk (p = 0.022), and the carriers of rs2004659 G allele had a 32% decreased risk of BC than individuals with allele A (p = 0.004). In the four genetic models, rs9286836 and rs2004659 reduced the risk of BC. Additionally, we found that the NUDT17 SNPs were associated with BC risk under age, tumor size, and clinical stage stratification. The MDR analysis showed that the five-locus interaction model was the best in the multi-locus model.
Conclusion: Our study found that NUDT17 single nucleotide polymorphisms are associated with BC susceptibility in Chinese Han population.
背景:乳腺癌(BC)是全球女性癌症死亡的主要原因。nudix hydrolase 17(NUDT17)可能在癌症的生长和转移过程中发挥显著作用。本研究探讨了 NUDT17 基因多态性在 BC 患者中的重要性:在我们的研究中,有 563 名 BC 患者和 552 名健康对照者参与。我们使用逻辑回归分析计算几率比(OR)和95%置信区间(CI),并对SNP-SNP相互作用进行多因素降维(MDR)分析。最后,利用 UALCAN 和 THPA 数据库进行生物信息学分析:结果:rs9286836 G 等位基因与 BC 风险降低有关(p = 0.022),rs2004659 G 等位基因携带者的 BC 风险比等位基因 A 的个体降低 32%(p = 0.004)。在四个遗传模型中,rs9286836 和 rs2004659 可降低 BC 风险。此外,我们还发现,在年龄、肿瘤大小和临床分期分层的情况下,NUDT17 SNP 与 BC 风险相关。MDR分析表明,五病灶交互作用模型在多病灶模型中是最好的:我们的研究发现,NUDT17单核苷酸多态性与中国汉族人群的BC易感性有关。
{"title":"Association between <i>NUDT17</i> polymorphisms and breast cancer risk.","authors":"Junhui Han, Jing Liang, Wenqian Zhou, Man Zhang, Tianbo Jin","doi":"10.1080/14737159.2024.2353700","DOIUrl":"10.1080/14737159.2024.2353700","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer (BC) is the leading cause of cancer death among women worldwide. The nudix hydrolase 17 (NUDT17) may play notable roles in cancer growth and metastasis. In this study, we explored the importance of NUDT17 gene polymorphism in patients with BC.</p><p><strong>Methods: </strong>In our study, 563 BC patients and 552 healthy controls participated. We used logistic regression analysis to calculate odds ratios (OR) and 95% confidence intervals (CI), and multifactor dimension reduction (MDR) analysis of SNP-SNP interactions. Finally, UALCAN and THPA databases were used for bioinformatics analysis.</p><p><strong>Results: </strong>The rs9286836 G allele was associated with a decreased the BC risk (<i>p</i> = 0.022), and the carriers of rs2004659 G allele had a 32% decreased risk of BC than individuals with allele A (<i>p</i> = 0.004). In the four genetic models, rs9286836 and rs2004659 reduced the risk of BC. Additionally, we found that the NUDT17 SNPs were associated with BC risk under age, tumor size, and clinical stage stratification. The MDR analysis showed that the five-locus interaction model was the best in the multi-locus model.</p><p><strong>Conclusion: </strong>Our study found that NUDT17 single nucleotide polymorphisms are associated with BC susceptibility in Chinese Han population.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-05-16DOI: 10.1080/14737159.2024.2353696
Matt Evans, Timothy Kendall
Introduction: Advances in precision medicine have expanded access to targeted therapies and demand for molecular profiling of cholangiocarcinoma (CCA) patients in routine clinical practice. However, pathologists face challenges in establishing a definitive intrahepatic CCA (iCCA) diagnosis while preserving sufficient tissue for molecular profiling. Additionally, they frequently face challenges in optimal tissue handling to preserve nucleic acid integrity.
Areas covered: This article first identifies the challenges in establishing a definitive diagnosis of iCCA in a lesional liver biopsy while preserving sufficient tissue for molecular profiling. Then, the authors explore the clinical value of molecular profiling, the basic principles of single gene and next-generation sequencing (NGS) techniques, and the challenges in tissue sampling for genomic testing. They also propose an algorithm for best practice in tissue management for molecular profiling of CCA.
Expert opinion: Several practical challenges face pathologists during tissue sampling and processing for molecular profiling. Optimized tissue processing, careful tissue handling, and selection of appropriate approaches to molecular testing are essential to ensure that the highest possible quality of diagnostic information is provided in the greatest proportion of cases.
导言:精准医疗的进步扩大了靶向治疗的可及性,常规临床实践中对胆管癌(CCA)患者进行分子图谱分析的需求也随之增加。然而,病理学家在确定肝内 CCA(iCCA)明确诊断的同时又要保留足够的组织进行分子图谱分析时面临着挑战。此外,他们还经常面临如何以最佳方式处理组织以保持核酸完整性的挑战:本文首先指出了在病变肝活检中明确诊断 iCCA,同时保留足够的组织进行分子分析所面临的挑战。然后,作者探讨了分子图谱分析的临床价值、单基因和下一代测序 (NGS) 技术的基本原理以及基因组测试组织取样的挑战。他们还提出了一种用于 CCA 分子图谱分析的组织管理最佳实践算法:病理学家在组织取样和处理过程中面临着一些实际挑战。优化组织处理、谨慎组织处理以及选择合适的分子检测方法对于确保为尽可能多的病例提供最高质量的诊断信息至关重要。
{"title":"Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices.","authors":"Matt Evans, Timothy Kendall","doi":"10.1080/14737159.2024.2353696","DOIUrl":"10.1080/14737159.2024.2353696","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in precision medicine have expanded access to targeted therapies and demand for molecular profiling of cholangiocarcinoma (CCA) patients in routine clinical practice. However, pathologists face challenges in establishing a definitive intrahepatic CCA (iCCA) diagnosis while preserving sufficient tissue for molecular profiling. Additionally, they frequently face challenges in optimal tissue handling to preserve nucleic acid integrity.</p><p><strong>Areas covered: </strong>This article first identifies the challenges in establishing a definitive diagnosis of iCCA in a lesional liver biopsy while preserving sufficient tissue for molecular profiling. Then, the authors explore the clinical value of molecular profiling, the basic principles of single gene and next-generation sequencing (NGS) techniques, and the challenges in tissue sampling for genomic testing. They also propose an algorithm for best practice in tissue management for molecular profiling of CCA.</p><p><strong>Expert opinion: </strong>Several practical challenges face pathologists during tissue sampling and processing for molecular profiling. Optimized tissue processing, careful tissue handling, and selection of appropriate approaches to molecular testing are essential to ensure that the highest possible quality of diagnostic information is provided in the greatest proportion of cases.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-05-15DOI: 10.1080/14737159.2024.2353690
Anne Hauner, Chukwuemeka Onwuchekwa, Kevin K Ariën
Introduction: Diagnostics are an essential, undervalued part of the health-care system. For many diseases, molecular diagnostics are the gold standard, but are not easy to implement in Low- and Middle-Income Countries (LMIC). Sample-to-result (S2R) platforms combining all procedures in a closed system could offer a solution. In this paper, we investigated their suitability for implementation in LMIC.
Areas covered: A scorecard was used to evaluate different platforms on a range of parameters. Most platforms scored fairly on the platform itself, ease-of-use and test consumables; however, shortcomings were identified in cost, distribution and test panels tailored to LMIC needs. The diagnostic coverage for common infectious diseases was found to have a wider coverage in high-income countries (HIC) than LMIC. A literature study showed that in LMIC, these platforms are mainly used as diagnostic tools or evaluation of diagnostic performance, with a minority assessing the operational characteristics or the clinical utility. In this narrative review, we identified various points for adaptation of S2R platforms to LMIC conditions.
Expert opinion: For S2R platforms to be suitable for implementation in LMIC some modifications by the manufacturers could be considered. Furthermore, strengthening health systems and digitalization are vital; as are smaller, cheaper, faster, and sustainable technologies.
{"title":"Sample-to-result molecular diagnostic platforms and their suitability for infectious disease testing in low- and middle-income countries.","authors":"Anne Hauner, Chukwuemeka Onwuchekwa, Kevin K Ariën","doi":"10.1080/14737159.2024.2353690","DOIUrl":"10.1080/14737159.2024.2353690","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnostics are an essential, undervalued part of the health-care system. For many diseases, molecular diagnostics are the gold standard, but are not easy to implement in Low- and Middle-Income Countries (LMIC). Sample-to-result (S2R) platforms combining all procedures in a closed system could offer a solution. In this paper, we investigated their suitability for implementation in LMIC.</p><p><strong>Areas covered: </strong>A scorecard was used to evaluate different platforms on a range of parameters. Most platforms scored fairly on the platform itself, ease-of-use and test consumables; however, shortcomings were identified in cost, distribution and test panels tailored to LMIC needs. The diagnostic coverage for common infectious diseases was found to have a wider coverage in high-income countries (HIC) than LMIC. A literature study showed that in LMIC, these platforms are mainly used as diagnostic tools or evaluation of diagnostic performance, with a minority assessing the operational characteristics or the clinical utility. In this narrative review, we identified various points for adaptation of S2R platforms to LMIC conditions.</p><p><strong>Expert opinion: </strong>For S2R platforms to be suitable for implementation in LMIC some modifications by the manufacturers could be considered. Furthermore, strengthening health systems and digitalization are vital; as are smaller, cheaper, faster, and sustainable technologies.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-05-13DOI: 10.1080/14737159.2024.2347484
Gabriele Roccuzzo, Cristina Sarda, Valentina Pala, Simone Ribero, Pietro Quaglino
Introduction: Over the past decade, significant advancements in the field of melanoma have included the introduction of a new staging system and the development of immunotherapy and targeted therapies, leading to changes in substage classification and impacting patient prognosis. Despite these strides, early detection remains paramount. The quest for dependable prognostic biomarkers is ongoing, given melanoma's unpredictable nature, especially in identifying patients at risk of relapse. Reliable biomarkers are critical for informed treatment decisions.
Areas covered: This review offers a comprehensive review of prognostic biomarkers in the context of clinical trials for immunotherapy and targeted therapy. It explores different clinical scenarios, including adjuvant, metastatic, and neo-adjuvant settings. Key findings suggest that tumor mutational burden, PD-L1 expression, IFN-γ signature, and immune-related factors are promising biomarkers associated with improved treatment responses.
Expert opinion: Identifying practical prognostic factors for melanoma therapy is challenging due to the tumor's heterogeneity. Promising biomarkers include tumor mutational burden (TMB), circulating tumor DNA, and those characterizing the tumor microenvironment, especially the immune component. Future research should prioritize large-scale, prospective studies to validate and standardize these biomarkers, emphasizing clinical relevance and real-world applicability. Easily accessible biomarkers have the potential to enhance the precision and effectiveness of melanoma management.
{"title":"Prognostic biomarkers in melanoma: a 2023 update from clinical trials in different therapeutic scenarios.","authors":"Gabriele Roccuzzo, Cristina Sarda, Valentina Pala, Simone Ribero, Pietro Quaglino","doi":"10.1080/14737159.2024.2347484","DOIUrl":"10.1080/14737159.2024.2347484","url":null,"abstract":"<p><strong>Introduction: </strong>Over the past decade, significant advancements in the field of melanoma have included the introduction of a new staging system and the development of immunotherapy and targeted therapies, leading to changes in substage classification and impacting patient prognosis. Despite these strides, early detection remains paramount. The quest for dependable prognostic biomarkers is ongoing, given melanoma's unpredictable nature, especially in identifying patients at risk of relapse. Reliable biomarkers are critical for informed treatment decisions.</p><p><strong>Areas covered: </strong>This review offers a comprehensive review of prognostic biomarkers in the context of clinical trials for immunotherapy and targeted therapy. It explores different clinical scenarios, including adjuvant, metastatic, and neo-adjuvant settings. Key findings suggest that tumor mutational burden, PD-L1 expression, IFN-γ signature, and immune-related factors are promising biomarkers associated with improved treatment responses.</p><p><strong>Expert opinion: </strong>Identifying practical prognostic factors for melanoma therapy is challenging due to the tumor's heterogeneity. Promising biomarkers include tumor mutational burden (TMB), circulating tumor DNA, and those characterizing the tumor microenvironment, especially the immune component. Future research should prioritize large-scale, prospective studies to validate and standardize these biomarkers, emphasizing clinical relevance and real-world applicability. Easily accessible biomarkers have the potential to enhance the precision and effectiveness of melanoma management.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-24DOI: 10.1080/14737159.2024.2346545
William M. Gallagher, Christine McCaffrey, C. Jahangir, Clodagh Murphy, Caoimbhe Burke, Arman Rahman
INTRODUCTION Histological images contain phenotypic information predictive of patient outcomes. Due to the heavy workload of pathologists, the time-consuming nature of quantitatively assessing histological features, and human eye limitations to recognize spatial patterns, manually extracting prognostic information in routine pathological workflows remains challenging. Digital pathology has facilitated the mining and quantification of these features utilizing whole-slide image (WSI) scanners and artificial intelligence (AI) algorithms. AI algorithms to identify image-based biomarkers from the tumor microenvironment (TME) have the potential to revolutionize the field of oncology, reducing delays between diagnosis and prognosis determination, allowing for rapid stratification of patients and prescription of optimal treatment regimes, thereby improving patient outcomes. AREAS COVERED In this review, the authors discuss how AI algorithms and digital pathology can predict breast cancer patient prognosis and treatment outcomes using image-based biomarkers, along with the challenges of adopting this technology in clinical settings. EXPERT OPINION The integration of AI and digital pathology presents significant potential for analyzing the TME and its diagnostic, prognostic, and predictive value in breast cancer patients. Widespread clinical adoption of AI faces ethical, regulatory, and technical challenges, although prospective trials may offer reassurance and promote uptake, ultimately improving patient outcomes by reducing diagnosis-to-prognosis delivery delays.
{"title":"Artificial Intelligence in Digital Histopathology for predicting patient prognosis and treatment efficacy in breast cancer.","authors":"William M. Gallagher, Christine McCaffrey, C. Jahangir, Clodagh Murphy, Caoimbhe Burke, Arman Rahman","doi":"10.1080/14737159.2024.2346545","DOIUrl":"https://doi.org/10.1080/14737159.2024.2346545","url":null,"abstract":"INTRODUCTION\u0000Histological images contain phenotypic information predictive of patient outcomes. Due to the heavy workload of pathologists, the time-consuming nature of quantitatively assessing histological features, and human eye limitations to recognize spatial patterns, manually extracting prognostic information in routine pathological workflows remains challenging. Digital pathology has facilitated the mining and quantification of these features utilizing whole-slide image (WSI) scanners and artificial intelligence (AI) algorithms. AI algorithms to identify image-based biomarkers from the tumor microenvironment (TME) have the potential to revolutionize the field of oncology, reducing delays between diagnosis and prognosis determination, allowing for rapid stratification of patients and prescription of optimal treatment regimes, thereby improving patient outcomes.\u0000\u0000\u0000AREAS COVERED\u0000In this review, the authors discuss how AI algorithms and digital pathology can predict breast cancer patient prognosis and treatment outcomes using image-based biomarkers, along with the challenges of adopting this technology in clinical settings.\u0000\u0000\u0000EXPERT OPINION\u0000The integration of AI and digital pathology presents significant potential for analyzing the TME and its diagnostic, prognostic, and predictive value in breast cancer patients. Widespread clinical adoption of AI faces ethical, regulatory, and technical challenges, although prospective trials may offer reassurance and promote uptake, ultimately improving patient outcomes by reducing diagnosis-to-prognosis delivery delays.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140664275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-18DOI: 10.1080/14737159.2024.2344777
Dina Yehia, Clarus Leung, Don D. Sin
Chronic obstructive pulmonary disease (COPD) accounts for 545 million people living with chronic respiratory disorders and is the third leading cause of morbidity and mortality around the world. CO...
{"title":"Clinical utilization of airway inflammatory biomarkers in the prediction and monitoring of clinical outcomes in patients with chronic obstructive pulmonary disease","authors":"Dina Yehia, Clarus Leung, Don D. Sin","doi":"10.1080/14737159.2024.2344777","DOIUrl":"https://doi.org/10.1080/14737159.2024.2344777","url":null,"abstract":"Chronic obstructive pulmonary disease (COPD) accounts for 545 million people living with chronic respiratory disorders and is the third leading cause of morbidity and mortality around the world. CO...","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140624816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Oral Squamous Cell Carcinoma (OSCC), the sixth most widespread malignancy in the world, accounts for 90% of all cases of oral cancer. The primary risk factors are tobacco chewing, alcohol consumpti...
{"title":"The emerging role of liquid biopsy in oral squamous cell carcinoma detection: advantages and challenges","authors":"Sudha Gupta, Brijesh Singh, Rajul Abhishek, Sameer Gupta, Manisha Sachan","doi":"10.1080/14737159.2024.2340997","DOIUrl":"https://doi.org/10.1080/14737159.2024.2340997","url":null,"abstract":"Oral Squamous Cell Carcinoma (OSCC), the sixth most widespread malignancy in the world, accounts for 90% of all cases of oral cancer. The primary risk factors are tobacco chewing, alcohol consumpti...","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140597133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01Epub Date: 2024-02-05DOI: 10.1080/14737159.2024.2312102
Gracia Maria Vargas, Neha Shafique, Xiaowei Xu, Giorgos Karakousis
Introduction: Tumor-infiltrating lymphocytes (TILs) have been investigated as prognostic factors in melanoma. Recent advancements in assessing the tumor microenvironment in the setting of more widespread use of immune checkpoint blockade have reignited interest in identifying predictive biomarkers. This review examines the function and significance of TILs in cutaneous melanoma, evaluating their potential as prognostic and predictive markers.
Areas covered: A literature search was conducted on papers covering tumor infiltrating lymphocytes in cutaneous melanoma available online in PubMed and Web of Science from inception to 1 December 2023, supplemented by citation searching. This article encompasses the assessment of TILs, the role of TILs in the immune microenvironment, TILs as a prognostic factor, TILs as a predictive factor for immunotherapy response, and clinical applications of TILs in the treatment of cutaneous melanoma.
Expert opinion: Tumor-infiltrating lymphocytes play a heterogeneous role in cutaneous melanoma. While they have historically been associated with improved survival, their status as independent prognostic or predictive factors remains uncertain. Novel methods of TIL assessment, such as determination of TIL subtypes and molecular signaling, demonstrate potential for predicting therapeutic response. Further, while their clinical utility in risk-stratification in melanoma treatment shows promise, a lack of consensus data hinders standardized application.
简介:肿瘤浸润淋巴细胞(TILs肿瘤浸润淋巴细胞(TILs)是黑色素瘤的预后因素之一。最近,随着免疫检查点阻断技术的广泛应用,在评估肿瘤微环境方面取得的进展再次激发了人们对确定预测性生物标志物的兴趣。这篇综述探讨了TILs在皮肤黑色素瘤中的功能和意义,评估了它们作为预后和预测标志物的潜力:本文对PubMed和Web of Science上从开始到2023年12月1日期间有关皮肤黑色素瘤中肿瘤浸润淋巴细胞的在线文献进行了检索,并辅以引文检索。本文包括TILs的评估、TILs在免疫微环境中的作用、TILs作为预后因素、TILs作为免疫疗法反应的预测因素以及TILs在皮肤黑色素瘤治疗中的临床应用:肿瘤浸润淋巴细胞在皮肤黑色素瘤中发挥着不同的作用。虽然肿瘤浸润淋巴细胞历来与生存率的提高有关,但其作为独立预后或预测因素的地位仍不确定。新的 TIL 评估方法(如确定 TIL 亚型和分子信号转导)显示了预测治疗反应的潜力。此外,虽然它们在黑色素瘤治疗风险分级中的临床应用前景看好,但缺乏共识数据阻碍了它们的标准化应用。
{"title":"Tumor-infiltrating lymphocytes as a prognostic and predictive factor for Melanoma.","authors":"Gracia Maria Vargas, Neha Shafique, Xiaowei Xu, Giorgos Karakousis","doi":"10.1080/14737159.2024.2312102","DOIUrl":"10.1080/14737159.2024.2312102","url":null,"abstract":"<p><strong>Introduction: </strong>Tumor-infiltrating lymphocytes (TILs) have been investigated as prognostic factors in melanoma. Recent advancements in assessing the tumor microenvironment in the setting of more widespread use of immune checkpoint blockade have reignited interest in identifying predictive biomarkers. This review examines the function and significance of TILs in cutaneous melanoma, evaluating their potential as prognostic and predictive markers.</p><p><strong>Areas covered: </strong>A literature search was conducted on papers covering tumor infiltrating lymphocytes in cutaneous melanoma available online in PubMed and Web of Science from inception to 1 December 2023, supplemented by citation searching. This article encompasses the assessment of TILs, the role of TILs in the immune microenvironment, TILs as a prognostic factor, TILs as a predictive factor for immunotherapy response, and clinical applications of TILs in the treatment of cutaneous melanoma.</p><p><strong>Expert opinion: </strong>Tumor-infiltrating lymphocytes play a heterogeneous role in cutaneous melanoma. While they have historically been associated with improved survival, their status as independent prognostic or predictive factors remains uncertain. Novel methods of TIL assessment, such as determination of TIL subtypes and molecular signaling, demonstrate potential for predicting therapeutic response. Further, while their clinical utility in risk-stratification in melanoma treatment shows promise, a lack of consensus data hinders standardized application.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11134288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139680966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}