Expert Review of Molecular Diagnostics最新文献

Introduction: Transfer RNA-derived small RNAs (tsRNAs) have emerged as critical regulators in cancer biology, influencing gene expression, protein synthesis, and cellular signaling. Their unique expression patterns and functional diversity highlight their potential for diagnostic, prognostic, and therapeutic potential, particularly in hepatocellular carcinoma (HCC), a major cause of cancer-related mortality worldwide.

Areas covered: This review provides the first integrative overview of tsRNAs in HCC, encompassing their biogenesis, classification, molecular functions, and involvement in tumor hallmarks, including proliferation, metastasis, apoptosis, metabolism, angiogenesis, and immune modulation. We also summarize current advances in detection methods and databases and highlight the translational potential of tsRNAs as diagnostic, prognostic, and therapeutic targets. This work emphasizes unexplored dimensions of tsRNA-mediated regulation, connecting mechanistic insights with clinical applications.

Expert opinion: Although tsRNAs show great promise in HCC diagnosis, prognosis, and therapy, clinical translation remains hindered by gaps in mechanistic understanding, technical challenges in detection, and a lack of large-scale validation. Overcoming these limitations through standardized methodologies and multi-omics integration could unlock their full potential in precision cancer medicine.

Introduction: Invasive fungal infections (IFIs) remain a major clinical challenge due to the expansion of high-risk patient groups and drawbacks of conventional diagnostics which contribute to the devastating mortality rates associated with these diseases.

Areas covered: Current mycological diagnostics suffer from limitations of sensitivity, specificity, and the capacity to determine invasive infection. We explore advancements in omics technologies which present opportunities to gain insights into the host response to invasive infection. We discuss developments in genomics, transcriptomics, proteomics, and metabolomics and their applications for investigating host-pathogen interactions during IFIs. The literature search was conducted in the PubMed database for the period between January 2020 and August 2025.

Expert opinion/commentary: We focus on the potential of host-based biomarkers to facilitate personalized medicine at every stage of disease management. Covering initial risk stratification, diagnosis, prognosis, choice of antifungal therapy, disease monitoring, and antifungal stewardship. We underscore the possibility of exploiting these biomarkers in a proactive and preventative approach to allow early and personalized antifungal treatment of IFIs. To maximize the potential of the data gathered, we highlight the utility of frameworks that integrate and optimize existing diagnostic expertise.

Introduction: IgE-mediated Cannabis allergy (CA) is a potentially severe immediate hypersensitivity reaction caused by exposure to cannabis derivatives, which is frequently associated with a secondary form of plant food allergy.

Areas covered: Since the first description of CA in the 1970s, the research on CA and understanding of its allergenic profile has grown. To date, five Cannabis sativa allergens have been officially registered and many others have been identified as putative. This review provides a comprehensive overview of molecular insights in the field as of 2025.

Expert opinion/commentary: Many questions concerning CA remain unanswered, and the exact clinical role of certain allergens is unclear to date. Given the increasing worldwide use of cannabis, further research is needed to fill current knowledge gaps and provide accessible and effective diagnostic tools.

Introduction: Classic myeloproliferative neoplasms (MPN), comprising polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), both primary and secondary to PV and ET, are clonal hematopoietic disorders characterized by abnormal proliferation of largely mature cells, commonly associated with JAK2, CALR, or MPL mutations. These mutations result in the constitutive activation of the JAK-STAT pathway. Furthermore, most patients - especially with MF - have additional mutations in genes associated with myeloid neoplasms, which encode proteins involved in chromatin modification, DNA methylation, mRNA splicing, transcriptional regulation, and oncogenesis.

Area covered: This review details the molecular landscape of MPN and examines its impact on patient management. It also evaluates emerging artificial intelligence-based prognostic models, highlighting their advantages and limitations.

Expert opinion: High throughput genomic characterization of MPN has identified clinically relevant driver and non-driver mutations. Driver mutations are crucial for diagnosis, monitoring post-transplantation, and treatment response in clinical trials and increasingly in routine practice. Mutation profiles, along with cytogenetic, histopathologic, and clinical data, are used to categorize patients by risk for thrombosis, survival, and progression to secondary leukemia. The identification of a molecular enhanced scoring system for secondary myelofibrosis and clinically relevant co-mutation patterns capable to predict specific outcomes are under investigation.

Introduction: Bladder cancer (BC), a prevalent urinary system malignancy, presents challenges for early diagnosis because of its nonspecific symptoms and late-stage presentation, leading to poor prognosis. Liquid biopsy, particularly urine-based testing, has emerged as a promising noninvasive alternative to tissue biopsy for early cancer detection, monitoring, and treatment guidance. Urinary tumor DNA (utDNA) and circulating tumor DNA (ctDNA) are key biomarkers that offer direct, noninvasive access to urinary tract tumor genetic information.

Areas covered: This review explores key dimensions of ctDNA and utDNA in BC, including BC epidemiology and current diagnostic limitations; cfDNA detection technologies; applications, advantages, and roles of ctDNA and utDNA in recurrence monitoring, treatment response assessment, and prognostic stratification; and ongoing clinical trials.

Expert opinion: ctDNA and utDNA are transformative tools in BC management, offering real-time insights into tumor dynamics, treatment response, and prognosis. The short half-life of ctDNA enables rapid assessment of tumor burden changes, whereas the noninvasive collection of utDNA enhances patient compliance. Despite challenges such as low biomarker abundance in urine, heterogeneity, and standardization gaps, ongoing clinical trials have validated its clinical utility. Future integration of ctDNA/utDNA into clinical practice will enable personalized, noninvasive BC care, improving early diagnosis, treatment optimization, and patient outcomes.

Introduction: Immunotherapy treatments, such as intravesical Bacillus Calmette-Guérin (BCG) for non-muscle invasive bladder cancer (NMIBC) and systemic immune checkpoint inhibitors (ICIs) for all stages are central to the management of urothelial carcinoma (UC). Biomarkers that are prognostic or predictive and that help in monitoring these therapies are needed to guide and improve efficacy and tolerability. In this review, we evaluated the current landscape of urinary biomarkers for predicting response to immunotherapy (BCG and ICIs) in UC patients and their potential to guide personalized treatment strategies.

Areas covered: This narrative review summarizes current evidence on urinary biomarkers for predicting responses to BCG and ICIs therapies in UC, based on a comprehensive search of PubMed literature.

Expert opinion: Urinary biomarkers show significant potential for transforming UC immunotherapy by facilitating personalized treatment. Despite promising initial data for various analytes, large-scale validation and standardization must be addressed. We still need better, faster, easier, cheaper, reliable and valid urine-based biomarkers. Future research should focus on multiplex panels to enhance patient stratification and improve therapeutic outcomes and follow-up.

Introduction: Gastric cancer (GC) is the fifth most common malignancy worldwide and it is associated with a poor prognosis, with most cases diagnosed at an advanced stage. In the advanced/metastatic setting, targeted treatments are assuming an increasingly central role. To assess the eligibility to these agents it is essential the evaluation of predictive biomarkers.

Areas covered: This review will provide an analysis of both established and novel predictive biomarkers for GC. Biomarkers currently adopted in clinical practice include HER2 overexpression/ERBB2 amplification, PD-L1 expression and MMR/MSI status, with CLDN18.2 expression as a recent addition. Other predictive biomarkers currently under evaluation include FGFR2b expression, EBV status, MET overexpression/MET amplification, EGFR amplification and VEGF/VEGFR status.

Expert opinion: The increasing number of targeted therapies is revolutionizing the treatment landscape of advanced GC, but some critical challenges remain to be addressed. These include issues related to the amount of available tissue samples, spatial and temporal heterogeneity of biomarkers expression and interobserver variability, as well as issues in the identification of the most appropriate therapeutic strategy in the presence of overlapping biomarkers positivity. To address these problems, interdisciplinary collaboration between pathologists and clinicians is essential.

Introduction: Blood-based liquid biopsies represent a transformative, minimally-invasive, and patient-friendly approach. Tumor-derived components in the bloodstream, are at the forefront of active research for diagnosis and prediction of prognosis. Early cancer detection and real-time monitoring of treatment effectiveness are the most relevant from the perspective of both the clinicians and the patients. A demand for noninvasive markers is ably powered by sustained advancements in high-throughput technologies such as Next Generation Sequencing and mass spectrometry, paired with artificial intelligence and machine learning, which are requisites in expanding the power of liquid biopsies through multi-analyte tests.

Areas covered: In this review, we present the current developments in the domain of liquid biopsy for prostate cancer with specific examples of relevant blood-based biomarkers, FDA-approved tests, advanced methodologies that dominated the expansion of this field, and also discuss common challenges in incorporating these tests in routine clinical practice. Nonetheless, as validation data progressively accumulates, liquid biopsies could change our approach and overall experience with diagnosis, dynamic customized treatments, and overall prognosis in prostate cancer patients.

Expert opinion: Through interdisciplinary collaborations, blood-based diagnostic markers will emerge as accurate surrogates for routine screening, treatment response prediction/evaluation, and prognosis prediction in prostate cancer patients in the future.