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Expert Review Of Molecular Diagnostics[JOURNAL]

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Blood-based biomarkers for Alzheimer's disease. 'Treat the test, not the patient?'; are we ready to defy Osler?

Connon P, McKenna MC, Black SE … +1 more , Masellis M

Expert Rev Mol Diagn · 2026 May · PMID 42107929 · Publisher ↗

Abstract loading — click title to view on PubMed.

Fusion genes in precision oncology: prostate cancer as a diagnostic case study.

Morgan RA, Hardiman G

Expert Rev Mol Diagn · 2026 May · PMID 42106974 · Publisher ↗

INTRODUCTION: Fusion genes represent one of the most specific molecular alterations in human cancer and have long served as important diagnostic and therapeutic biomarkers. Advances in next-generation sequencing have dri... INTRODUCTION: Fusion genes represent one of the most specific molecular alterations in human cancer and have long served as important diagnostic and therapeutic biomarkers. Advances in next-generation sequencing have driven a rapid expansion in fusion gene discovery. Clinical translation has lagged however, particularly in solid tumors. This review critically examines the role of fusion genes in molecular diagnostics, focusing on opportunities, limitations and clinical implementation. AREAS COVERED: We summarize the biological mechanisms underlying fusion gene formation as they influence diagnostic detection and interpretation. Current technologies for fusion detection in clinical practice are evaluated and major diagnostic pitfalls discussed. Prostate cancer is presented as a diagnostic case study to illustrate both the promise and limitations of fusion gene-based biomarkers. EXPERT OPINION: Despite their biological appeal and tumor specificity, fusion genes remain underutilized in routine diagnostics due to interpretive complexity and limited clinical validation. In our view, fusion genes are most likely to deliver sustained diagnostic value when incorporated into targeted, standardized and context-aware diagnostic frameworks rather than pursued as isolated biomarkers. Over the next five years, fusion gene diagnostics are expected to become more selective, integrative and clinically disciplined, with emphasis shifting from discovery toward validated clinical utility.

Clinical utility of novel point-of-care Amnioquick card tests for the assessment of pre-labor rupture of fetal membranes: a narrative review.

Eleje GU, Egwuatu EC, Ukoha C … +3 more , Eleje LI, Ubom AE, Eke AC

Expert Rev Mol Diagn · 2026 May · PMID 42096190 · Publisher ↗

INTRODUCTION: Pre-labor rupture of membranes (PROM) remains a major contributor to adverse maternal and neonatal outcomes, particularly in settings where diagnostic uncertainty delays appropriate intervention. Novel poin... INTRODUCTION: Pre-labor rupture of membranes (PROM) remains a major contributor to adverse maternal and neonatal outcomes, particularly in settings where diagnostic uncertainty delays appropriate intervention. Novel point-of-care biochemical assays, including the Amnioquick card test, have emerged to address the limitations of conventional bedside methods in PROM diagnosis. AREAS COVERED: This narrative review synthesizes evidence from nine peer-reviewed studies encompassing 1,255 participants to evaluate the diagnostic accuracy, clinical applicability, and limitations of the Amnioquick assays. Reported sensitivity ranged from 93.3% to 100%, specificity (86.4%-100%), positive predictive value (87.3%-100%), negative predictive value (73.7%-100%), and overall accuracy from 90.0% to 99.1%. These results demonstrate robust diagnostic performance across diverse clinical and geographic contexts, with consistent findings even in equivocal samples. EXPERT OPINION: Amnioquick provides rapid, reliable confirmation of PROM at bedside using dual markers insulin-like growth factor binding protein-1 (IGFBP-1) and alpha-fetoprotein (AFP), improving accuracy over single marker or pH tests and reducing unnecessary interventions. Its simplicity, minimal infrastructure needs, and quick results make it suitable for low and middle-income settings. Barriers such as cost, limited multicentre validation, and reduced reliability in contaminated samples remain. Future goals include triton-free formulation, integration with digital readers and electronic decision tools, and large multicentre outcome-linked evaluations.

Liquid biopsy for biliary tract cancer: available evidence and future research directions.

Erul E, Ricci AD, Della Mura M … +5 more , Cazzato G, Massafra R, Kubilay Tolunay P, Ürün Y, Rizzo A

Expert Rev Mol Diagn · 2026 May · PMID 42087549 · Publisher ↗

INTRODUCTION: Biliary tract cancers (BTCs) are molecularly heterogeneous, and early genomic profiling is becoming increasingly important for treatment decisions. Because tissue sampling is often limited or inadequate, th... INTRODUCTION: Biliary tract cancers (BTCs) are molecularly heterogeneous, and early genomic profiling is becoming increasingly important for treatment decisions. Because tissue sampling is often limited or inadequate, there is a clear need for minimally invasive biomarkers that can support treatment selection and longitudinal disease assessment. AREAS COVERED: This narrative review summarizes current and emerging liquid-biopsy (LB) applications in BTC, with a primary focus on plasma circulating tumor DNA (ctDNA). The evidence base was assembled through targeted searches of PubMed/MEDLINE and Embase up to 1 February 2026, supported by selective ClinicalTrials.gov searches for ongoing biomarker-driven studies. We discuss ctDNA-based molecular profiling for actionable alterations, its prognostic role including minimal residual disease assessment, and its use in serial monitoring of treatment response and acquired resistance. We also consider how LB may support clinical-trial enrichment and biomarker-guided endpoints, and briefly review complementary approaches using bile and other analytes, while highlighting current evidence gaps. EXPERT OPINION: In BTC, ctDNA is best viewed as a complement to tissue-based profiling, especially when tissue is inadequate or when rapid genotyping is needed. Its broader clinical impact will depend on assay standardization, clearer interpretation frameworks for low-shedding disease, and prospective studies showing that ctDNA-guided decisions improve patient outcomes.

AI and the digital pathology revolution: clinical applications in cancer diagnosis and assessment.

Paul S, Isaacs HM, Cote RJ

Expert Rev Mol Diagn · 2026 Apr · PMID 42070246 · Full text

INTRODUCTION: Hematoxylin & Eosin (H&E) stained slides are the gold standard for cancer diagnosis but are subject to labor-intensive review and inter-observer variability. Whole-slide imaging (WSI) and digital pathology... INTRODUCTION: Hematoxylin & Eosin (H&E) stained slides are the gold standard for cancer diagnosis but are subject to labor-intensive review and inter-observer variability. Whole-slide imaging (WSI) and digital pathology are reshaping this landscape, enabling remote diagnosis, quantitative analysis, and integration with clinical and molecular data for precision medicine. The complexity of cancer diagnosis highlights the need for sophisticated analytical tools capable of extracting multidimensional information from tissue sections. AREAS COVERED: Technological and computational advances driving the integration of artificial intelligence (AI) and digital pathology including; the transition from classical machine-learning to deep learning models that learn hierarchical representations from raw WSIs; convolutional neural networks, transformers and foundational computational pathology models; tasks such as biomarker prediction and prognostic modeling; emerging research on multimodal AI systems that are integrating histology images with text data to improve clinical relevance; challenges related to data sharing and privacy, generalizability, and the implementation of these approaches in real-world clinical settings. EXPERT OPINION: Digital pathology and AI are transforming cancer diagnosis and evaluation. We expect that AI will be increasingly embedded in routine pathology practice to enhance diagnostic accuracy, improve efficiency, advance biological discovery, and perform tasks out of reach of conventional microscopy, thus advancing precision oncology.

Evaluation of cell free DNA methylation as a biomarker to differentiate different liver diseases.

Zuo J, Guo XH, Ma HY … +2 more , Yang JR, Fan YC

Expert Rev Mol Diagn · 2026 May · PMID 42070112 · Publisher ↗

INTRODUCTION: A major challenge in many liver diseases is the lack of highly sensitive, specific, and minimally invasive biomarkers. Cell-free DNA (cfDNA) methylation compensates for the limitations of existing biomarker... INTRODUCTION: A major challenge in many liver diseases is the lack of highly sensitive, specific, and minimally invasive biomarkers. Cell-free DNA (cfDNA) methylation compensates for the limitations of existing biomarkers and exhibits substantial clinical application potential in a variety of liver diseases, notably hepatocellular carcinoma (HCC). A systematic literature search was conducted in the PubMed, Web of Science Core Collection, and Cochrane Library databases from 1 January 2000, to 31 December 2025. AREAS COVERED: This article systematically explores the value of cfDNA methylation as a biomarker in diverse liver diseases, covering metabolic-associated fatty liver disease, hepatitis B virus-related liver disease, autoimmune liver diseases, cholestatic liver disease, graft injury after liver transplantation, acute-on-chronic liver failure, and HCC. EXPERT OPINION: cfDNA methylation is a promising biomarker. In various liver diseases, particularly HCC, its diagnostic efficacy not only outperforms some traditional biomarkers but also complements others. Coupled with its minimally invasive nature, this supports personalized treatment strategies and long-term disease management. However, current research lacks standardized protocols. Future efforts should therefore focus on establishing unified standards for technical procedures, data analysis, and clinical interpretation to accelerate its translation from basic research to clinical application.

Bio-interfaces-based detection of gastric carcinogenic bacterium : enabling early and high precision diagnosis.

Singla A, Jain U, Chauhan N

Expert Rev Mol Diagn · 2026 Apr · PMID 42063355 · Publisher ↗

INTRODUCTION: infection is widespread globally, affecting more than half of the world's population. However, traditional detection methods, which have been used for decades, have several limitations, such as invasivenes... INTRODUCTION: infection is widespread globally, affecting more than half of the world's population. However, traditional detection methods, which have been used for decades, have several limitations, such as invasiveness and the requirement for endoscopy to acquire biopsy samples. Given the severity and complexity of the diseases caused by , biosensors provide a practical solution for detection, offering a valuable approach to simple, accurate, rapid, and highly specific identification of stomach cancer in its early stages. AREAS COVERED: This review paper provides a comprehensive overview of various biosensors categorized into distinct sections based on their classification. Different electrochemical sensors, aptamer-based, optical, whole-cell, enzyme-based, and immunosensors that have already been developed for the detection of various biomarkers of are summarized. EXPERT OPINION: Future research should focus on developing more reliable, easier, cost-effective, and valid biomarker-based biosensors to enhance diagnostics and therapeutic outcomes. There is also a need to commercialize these biosensors, enabling individuals to detect disease themselves at home or facilitating real-time detection. The successful translation of these biosensors from laboratory settings to commercial use necessitates a series of defined steps, which warrant immediate prioritization.

LncRNA HAR1A in triple-negative breast cancer: mechanisms and the role of polymorphism rs 6089838 in susceptibility.

Yi X, Huang L, Kong L … +4 more , Yi X, Zhang H, Liu J, Han L

Expert Rev Mol Diagn · 2026 Mar · PMID 42055965 · Publisher ↗

BACKGROUND: Long non-coding RNAs (lncRNAs) are increasingly recognized as crucial regulators and potential biomarkers in triple-negative breast cancer (TNBC). This study examined the link between the rs6089838 polymorphi... BACKGROUND: Long non-coding RNAs (lncRNAs) are increasingly recognized as crucial regulators and potential biomarkers in triple-negative breast cancer (TNBC). This study examined the link between the rs6089838 polymorphism in HAR1A and TNBC susceptibility/progression and function. RESEARCH DESIGN AND METHODS: 197 TNBC patients and 185 healthy controls were recruited. Rs6089838 genotyping and serum lncRNA HAR1A quantification were performed using qRT PCR. Survival was analyzed via KM and Cox regression.. Cellular proliferation, migration, and invasion were measured using CCK-8 and Transwell assays. RESULTS: The GG genotype significantly lowered TNBC risk versus the AA genotype (OR =0.393,  = 0.002). GA/GG genotypes were associated with more favorable clinicopathological features. Serum lncRNA HAR1A was downregulated in TNBC patients ( < 0.001) and was positively correlated with the protective G allele frequency ( < 0.001). GA/GG carriers showed significantly longer overall survival than AA homozygotes ( < 0.001). Functional studies confirmed that HAR1A overexpression via pcDNA3.1 suppressed proliferation, migration, and invasion in breast cancer cell lines. Conversely, siRNA-mediated lncRNA HAR1A knockdown enhanced these oncogenic traits. CONCLUSION: The G allele of HAR1A rs6089838 represents a protective variant against TNBC susceptibility and progression, likely through HAR1A's tumor-suppressive activity. This SNP may have potential as a biomarker for TNBC risk and prognosis assessment.

Advances in molecular diagnostic strategies during the SARS-CoV-2 pandemic.

Shukla SK, Singh A, Yadav R … +1 more , Kumar A

Expert Rev Mol Diagn · 2026 Apr · PMID 42025580 · Publisher ↗

INTRODUCTION: The SARS-CoV-2 pandemic provided critical insights into pandemic preparedness. The community spread can be slowed down or contained through effective, rapid, and robust diagnosis of infected individuals. AR... INTRODUCTION: The SARS-CoV-2 pandemic provided critical insights into pandemic preparedness. The community spread can be slowed down or contained through effective, rapid, and robust diagnosis of infected individuals. AREA COVERED: During the pandemic, substantial advances were made in developing rapid and cost-effective diagnostic approaches. Self-collected gargle samples offer clear advantages over conventional NSP/OPS methods by reducing reliance on trained personnel and personal protective equipment. Colorimetric assays further improve accessibility, enabling rapid, instrument-free, and visually interpretable detection at low cost. CRISPR-based diagnostics present a promising alternative to RT-PCR, facilitating scalable mass screening with reduced technical dependence. Concurrently, optimization of RT-PCR workflows-particularly through minimization of pre-PCR steps-can enhance speed and affordability. The integration of digital technologies and artificial intelligence further leverages diagnostic capabilities. Despite this, improved regulatory frameworks and resilient supply chains are critical for ensuring scalable, equitable access, and effective pandemic preparedness. EXPERT OPINION: Global efforts were made to develop sensitive, rapid, cost-effective, and noninvasive technologies to identify the pandemic virus; however, variations in sensitivity/specificity and limited sample size validation hampered their utility in routine diagnostics. The COVID-19 pandemic has ended, but global efforts are still needed to combat the early infection of subsequent waves or similar disease waves.

Beyond mutations: epigenetic and fragmentomic landscapes of cfDNA in lung cancer.

Liu J, Schulz LSE, Zhou Q

Expert Rev Mol Diagn · 2026 Apr · PMID 42023873 · Publisher ↗

INTRODUCTION: Lung cancer is the most frequently diagnosed cancer worldwide and the leading cause of cancer-related mortality. Cell-free DNA (cfDNA) has emerged as a powerful biomarker in cancer detection. Early diagnost... INTRODUCTION: Lung cancer is the most frequently diagnosed cancer worldwide and the leading cause of cancer-related mortality. Cell-free DNA (cfDNA) has emerged as a powerful biomarker in cancer detection. Early diagnostics efforts often leverage cancer-associated mutations present in cfDNA, but beyond such mutation-based assays, recent advances have shed light on other non-mutational features. The analysis of cfDNA epigenetic profiles and fragmentation patterns, known as 'fragmentomics,' has revealed a wealth of data to explore in noninvasive lung cancer diagnosis. AREAS COVERED: This review will explore this new narrative, summarizing the current understanding and use of cfDNA epigenetic modifications and fragmentomic patterns, while integrating findings to illustrate their vast potential in early-stage detection and therapeutics. By considering a range of epigenetic and fragmentomic features, cfDNA methylation (5mC, 5hmC), histone modifications, size profiles, and end signatures, this review highlights how the multidimensional integration of such signals shows promise in refining early-stage lung cancer and guiding therapeutic decisions. EXPERT OPINION: cfDNA epigenetic and fragmentomic analyses represent a transformative frontier in lung cancer diagnostics and monitoring. While these approaches demonstrate significant potential, most studies are limited by modest cohort sizes and reports of survival benefits, underscoring the need for large-scale validation and deeper mechanistic understanding.

Cell-free HPV DNA as a complementary biomarker to imaging in HPV-associated oropharyngeal squamous cell carcinoma: a narrative synthesis of key studies.

Tinhofer I, Hausmann F

Expert Rev Mol Diagn · 2026 Mar · PMID 42012400 · Publisher ↗

INTRODUCTION: Human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (OPSCC) represents a biologically distinct disease entity with superior prognosis compared with HPV-negative head and neck cancers... INTRODUCTION: Human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (OPSCC) represents a biologically distinct disease entity with superior prognosis compared with HPV-negative head and neck cancers. While imaging-based strategies, particularly those monitoring hypoxia, have emerged as promising tools for response-guided de-escalation, they may not fully capture tumor biology or residual disease risk. Consequently, circulating tumor-derived HPV DNA (ctHPV-DNA) has gained attention as a minimally invasive biomarker with potential to complement imaging for treatment monitoring and surveillance. AREAS COVERED: This review synthesizes data from studies published over the past decade that evaluated the clinical utility of ctHPV-DNA assessment. Evidence is summarized for pretreatment detection, on-treatment kinetics, postoperative minimal residual disease, and longitudinal surveillance, with emphasis on the complementarity between molecular and imaging markers. EXPERT OPINION: Across cohorts, ctHPV-DNA mirrors tumor burden, clears with effective therapy, and often signals recurrence months before radiologic confirmation. Two consecutive positive tests may identify relapse and justify targeted imaging, whereas persistently negative serial tests provide strong reassurance. Although prognostic, the clinical benefit of ctHPV-DNA -guided management remains to be proven in prospective randomized trials. Standardization of assays and integration with imaging workflows will determine whether molecularly anchored surveillance becomes a quality benchmark in HPV-associated OPSCC care.

Association between the uric acid-to-HDL-cholesterol ratio and diabetic kidney disease in individuals with type 2 diabetes and NAFLD: evidence from NHANES and an external hospital cohort.

Gong Z, Zhang D, Cai N … +1 more , Wang P

Expert Rev Mol Diagn · 2026 Apr · PMID 42007948 · Publisher ↗

BACKGROUND: Diabetic kidney disease (DKD) is a major microvascular complication of type 2 diabetes mellitus (T2DM). Nonalcoholic fatty liver disease (NAFLD) frequently coexists with T2DM and may increase metabolic and re... BACKGROUND: Diabetic kidney disease (DKD) is a major microvascular complication of type 2 diabetes mellitus (T2DM). Nonalcoholic fatty liver disease (NAFLD) frequently coexists with T2DM and may increase metabolic and renal vulnerability. The uric acid-to-high-density lipoprotein cholesterol ratio (UHR) is a composite metabolic marker, but its association with DKD in T2DM with NAFLD remains unclear. RESEARCH DESIGN AND METHODS: We analyzed 797 adults with T2DM and CAP-defined NAFLD from NHANES 2017-2018 and 202 hospitalized adults with ultrasound-confirmed NAFLD. Kidney outcome was defined as eGFR <60 mL/min/1.73 m² in NHANES and as eGFR <60 mL/min/1.73 m² and/or albuminuria/proteinuria in the hospital cohort. Multivariable logistic regression and restricted cubic spline models were used. RESULTS: Higher UHR was independently associated with higher odds of kidney outcome in NHANES (OR=1.31, 95% CI: 1.19-1.46, <0.001) and in the hospital cohort (OR=1.30, 95% CI: 1.13-1.50, <0.001). Highest vs lowest quartile showed higher odds (NHANES: OR=7.93; hospital cohort: OR=4.03). RCS suggested an approximately linear association. CONCLUSIONS: Higher UHR was associated with higher odds of DKD in T2DM with NAFLD. Findings should be interpreted cautiously and confirmed in prospective studies.

Alpha-synuclein seed amplification assays differentiate synucleinopathies.

Dai W, Lin H, Mao H … +3 more , Kuang Y, Xu P, Li H

Expert Rev Mol Diagn · 2026 Mar · PMID 42001477 · Publisher ↗

INTRODUCTION: Synucleinopathies are characterized by the misfolding and aggregation of α-synuclein (α-Syn) into pathogenic strains that seed Lewy-body pathology in neurons and/or glial cytoplasmic inclusions in oligodend... INTRODUCTION: Synucleinopathies are characterized by the misfolding and aggregation of α-synuclein (α-Syn) into pathogenic strains that seed Lewy-body pathology in neurons and/or glial cytoplasmic inclusions in oligodendrocytes. α-syn seed-amplification assays (α-Syn SAAs) detect as little as 20 femtogram of synthetic α-Syn pre-formed fibrils (PFFs) or analogous synthetic aggregates in biospecimens, offering high sensitivity and specificity for synucleinopathies. AREAS COVERED: We review how distinct α-Syn strains propagate in Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), and we summarize the biophysical and procedural variables that govern SAA kinetics. We aim to identify an optimal means of modulating α-Syn SAA parameters so that each synucleinopathy subtype consistently yields distinct and stable kinetic signatures, thereby facilitating accurate biochemical diagnosis. EXPERT OPINION: α-Syn SAA holds the potential to become a routine assay for discriminating among synucleinopathy subtypes. Future research should focus on standardizing α-Syn SAA protocols, exploring the detailed mechanisms of distinct α-Syn strains propagation, and developing novel therapeutic strategies based on these insights.

Integrating epigenetic and immune biomarkers to enable dynamic precision therapy in triple-negative breast cancer.

Iqbal J, Chua SZ

Expert Rev Mol Diagn · 2026 Mar · PMID 41989247 · Publisher ↗

Abstract loading — click title to view on PubMed.

Clinical utility of blood-based biomarkers in pregnant women with inflammatory bowel disease.

Holstein HJ, Bouwknegt DG, Gordijn SJ … +6 more , Dijkstra G, Cantineau AEP, Mian P, van Goor H, Visschedijk MC, Bourgonje AR

Expert Rev Mol Diagn · 2026 Mar · PMID 41988786 · Publisher ↗

INTRODUCTION: Pregnancy in women with inflammatory bowel disease (IBD) is common, and active disease remains a key driver of adverse maternal and fetal outcomes. Maintaining remission throughout pregnancy is therefore es... INTRODUCTION: Pregnancy in women with inflammatory bowel disease (IBD) is common, and active disease remains a key driver of adverse maternal and fetal outcomes. Maintaining remission throughout pregnancy is therefore essential, however clinicians lack reliable, minimally invasive tools to monitor disease activity and stratify pregnancy-related risk. AREAS COVERED: This expert review critically addresses the current evidence on blood-based biomarkers for pregnancy in women with IBD. We discuss the impact of maternal disease activity on pregnancy outcomes, the bidirectional relationship between pregnancy and IBD disease course, and the potential contribution of placental dysfunction and oxidative stress to adverse outcomes. Established and emerging biomarkers, including fecal calprotectin, inflammatory, angiogenesis-, and oxidative stress-related biomarkers, are evaluated. We further outline methodological challenges, limitations of single biomarkers, and unmet needs in validation and clinical translation. EXPERT OPINION: We emphasize that the persistent focus on isolated biomarkers is unlikely to meet the complexity of pregnancy in patients with IBD. Instead, we propose that integrative multi-omics approaches capturing interacting biological processes represent a more conceptually sensible path forward. While rigorous prospective validation and standardization are essential before clinical implementation, such strategies hold promise for more personalized risk stratification and monitoring of pregnant patients with IBD.

What is the future of nanoparticles as a clinical theranostic tool for glioblastoma?

Shevtsov M, Fedorov V, Yudintceva N … +7 more , Ilina A, Amissah HA, Fofanov G, Oganesyan E, Opoku G, Amissah TA, Combs SE

Expert Rev Mol Diagn · 2026 Mar · PMID 41934504 · Publisher ↗

INTRODUCTION: Despite a combined approach to manage malignant brain tumors (including glioblastoma), which includes surgical removal of the tumor followed by cycles of radiotherapy and chemotherapy, patient survival rema... INTRODUCTION: Despite a combined approach to manage malignant brain tumors (including glioblastoma), which includes surgical removal of the tumor followed by cycles of radiotherapy and chemotherapy, patient survival remains extremely low. Advances in nanotechnology in recent decades offer hope for the use of nanoscale agents for the successful diagnosis and treatment of brain tumors. AREAS COVERED: This review analyzes the results of preclinical and clinical studies of nanoparticles of various physico-chemical compositions (e.g. SPIONs, AuNPs, QDs, etc) in the diagnosis and therapy (theranostics) of brain tumors. Particular attention is paid to the challenges of targeted drug delivery, antitumor activity, and future development strategies in this field. EXPERT OPINION: Nanoscale agents of diverse physicochemical compositions have demonstrated transformative potential in the diagnosis and treatment of brain tumors, bridging the gap between bench research and clinical application. By enabling precise imaging, targeted delivery, and real-time therapeutic monitoring, nanotechnology offers a multifaceted platform for advancing personalized neuro-oncology. Further interdisciplinary research, standardization of preclinical protocols, and carefully designed clinical trials will be vital in translating these advances into tangible clinical benefits. Nanoparticle-based theranostics are poised to redefine the therapeutic landscape of brain tumors moving from broad cytotoxicity toward targeted, adaptive, and patient-centered treatment paradigms.

CRISPR-Cas system: recent advancements in prompt diagnosis of high-risk HPV genotypes in cervical cancer.

Singh P, Sharma K, Tamrakar VK … +3 more , Khare R, Bhargava A, Negi SS

Expert Rev Mol Diagn · 2026 Mar · PMID 41919328 · Publisher ↗

INTRODUCTION: The CRISPR/Cas system has emerged as a highly versatile platform for diagnosing infectious diseases, particularly viral pathogens. Human papillomavirus (HPV) comprises of more than 200 types, with persisten... INTRODUCTION: The CRISPR/Cas system has emerged as a highly versatile platform for diagnosing infectious diseases, particularly viral pathogens. Human papillomavirus (HPV) comprises of more than 200 types, with persistent infection by 14 high-risk genotypes recognized as the primary cause of cervical cancer worldwide. Early and accurate detection of these High-Risk HPV (HR-HPV) types is essential for effective clinical management and prevention of disease progression. AREAS COVERED: This narrative review was based on literature searches in PubMed, Scopus, and Google Scholar covering studies published between 2015 and 2024. This review summarizes recent advances in CRISPR/Cas based diagnostics for HR-HPV, including both pre-amplification and amplification-free strategies. Integration of CRISPR systems with diverse readout modalities such as colorimetric, fluorescent, electrochemical, and lateral-flow biosensors has enabled rapid, sensitive, and user-friendly detection suitable for point-of-care testing (POCT), particularly in low-resource settings. EXPERT OPINION: CRISPR/Cas assays demonstrate high sensitivity, specificity, and speed, offering a promising alternative to conventional molecular techniques for HR-HPV detection and genotyping. The convergence of CRISPR diagnostics with artificial intelligence, microfluidics, and affordable biosensors holds significant potential to transform community-level HPV screening. With continued innovation and regulatory support, CRISPR/Cas systems are poised to become indispensable tools for early HR-HPV detection and cervical cancer prevention.

Translation of scRNA-seq to a clinical blood test for infection diagnostics.

Tang NLS, Kwan TK, Huang J … +7 more , Tang MLH, Ho HY, Wang X, Lai CKC, Lui GCY, Ma SL, Leung KS

Expert Rev Mol Diagn · 2026 Feb · PMID 41918251 · Publisher ↗

INTRODUCTION: Early and accurate triage of patients with febrile illness is crucial for appropriate treatment. While standard inflammatory biomarkers are often nonspecific, transcriptome analysis of peripheral blood has... INTRODUCTION: Early and accurate triage of patients with febrile illness is crucial for appropriate treatment. While standard inflammatory biomarkers are often nonspecific, transcriptome analysis of peripheral blood has diagnostic potential. However, bulk gene expression data is often confounded by changes in cell count proportions, a more robust quantification of gene expression in specific single-cell types, such as monocytes, is required to serve as a reliable clinical biomarker. AREAS COVERED: Various methods to obtain single-cell-type gene expression results, including the gold standard of gene expression analysis after cell sorting and single-cell RNA sequencing, which are difficult to implement in the routine settings are discussed. Other method to interrogate gene expression of a single cell-type is needed. Finally, monocyte cell-type specific ratio-based biomarker (RBB, called Direct Leukocyte Single cell-type Transcript Abundance, or DIRECT LS-TA) which can estimate single cell-type (monocyte) specific gene expression without cell sorting is introduced. EXPERT OPINION: Traditional diagnostic test for differentiating infection has several limitations requiring breakthrough including turn-around time and cost. DIRECT LS-TA provides a reliable way to quantify monocyte-specific gene expression that strongly correlates with gold-standard methods. It is more affordable than single-cell RNA sequencing and can be readily implemented in clinical laboratories using widely available quantitative PCR or digital PCR machines.

Prognostic value of dynamic sST2 and immune-coagulation biomarkers in severe community-acquired pneumonia: insights from a prospective cohort study.

Liu S, Dong J, Wu JH

Expert Rev Mol Diagn · 2026 Feb · PMID 41873900 · Publisher ↗

BACKGROUND: Effective risk stratification in community-acquired pneumonia (CAP) remains challenging. We evaluated soluble suppression of tumorigenicity 2 (sST2) dynamics for predicting 90-day all-cause mortality and hosp... BACKGROUND: Effective risk stratification in community-acquired pneumonia (CAP) remains challenging. We evaluated soluble suppression of tumorigenicity 2 (sST2) dynamics for predicting 90-day all-cause mortality and hospital readmission. METHODS: Prospective cohort of 146 severe CAP, 135 mild CAP patients, and 50 controls. Serum sST2 measured at admission and pre-discharge. with dynamic changes (ΔsST2 = T2 - T1) calculated. The primary endpoints were 90-day all-cause mortality and 90-day all-cause readmission, Predictive models 1for each endpoint, including sST2-based and traditional clinical scores, were compared using area under the receiver operating characteristic curve (AUC), Brier score, and decision curve analysis (DCA). RESULTS: Admission sST2 distinguished severity (AUC = 0.780). A pre-discharge model (sST2, D-dimer, lymphocyte percentage) predicted mortality superiorly (AUC = 0.79) versus clinical scores (PSI:0.69,  = 0.038; SOFA:0.66,  = 0.015). Admission sST2 independently predicted mortality (HR = 1.89,  = 0.003).High sST2 strongly predicted readmission at both T1 and T2. especially in the early to intermediate follow-up period. CONCLUSIONS: sST2 dynamics significantly enhance CAP risk stratification. The discharge-phase biomarker model outperforms conventional scores,a model using D-dimer, procalcitonin, and lymphocyte percentage is a practical alternative. Integrating recovery-phase biomarkers into discharge planning offers a precision medicine strategy to optimize post-discharge management and reduce adverse outcomes.
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