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 r...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: HER2-targeted antibody-drug conjugates (ADCs) have shown promising outcomes in the treatment of patients with various HER2-expressing solid tumors. The efficacy of ADCs is influenced by several factors, suc...INTRODUCTION: HER2-targeted antibody-drug conjugates (ADCs) have shown promising outcomes in the treatment of patients with various HER2-expressing solid tumors. The efficacy of ADCs is influenced by several factors, such as the antibody properties, linker design, payload type and potency, drug-to-antibody ratio, and target antigen expression. AREAS COVERED: This review specifically examines target antigen expression and the companion diagnostic (CDx) assays used to select patients for treatment with HER2-targeted ADCs. Pivotal clinical trials involving the two FDA-approved HER2-targeted ADCs, trastuzumab emtansine (T-DM1) and trastuzumab deruxtecan (T-DXd), were identified and assessed to determine whether they included data on efficacy outcomes associated with varying levels of HER2 expression. In addition, the clinical utility of the current FDA-approved HER2 CDx assays for selecting patients eligible for treatment with HER2-targeted ADCs is also discussed. EXPERT OPINION: High HER2 expression (IHC 3+) markedly affects the efficacy of T-DM1 and T-DXd in various solid tumors. Current data suggest that IHC should be used as the primary CDx assay to select patients for treatment with HER2-targeted ADCs. This recommendation aligns with the mechanism of action of ADCs, wherein increased receptor density facilitates receptor-mediated endocytosis of the drug molecules.
INTRODUCTION: Aromatase inhibitors (AI) plus CDK4/6 inhibitors are the current first-line standard-of-care for hormone receptor (HR)-positive/HER2-negative advanced breast cancer (ABC). However, mutations in (m), the ge...INTRODUCTION: Aromatase inhibitors (AI) plus CDK4/6 inhibitors are the current first-line standard-of-care for hormone receptor (HR)-positive/HER2-negative advanced breast cancer (ABC). However, mutations in (m), the gene encoding the estrogen receptor, can drive resistance to AI; their detection in circulating tumor DNA from liquid biopsies may be used to guide treatment. AREAS COVERED: A literature search was performed using PubMed and Pharmaspectra to evaluate the current m testing landscape and compare analytical performance of commercially available m assays. Twenty-eight publications and ten congress abstracts detailing assays for m detection in liquid biopsies were identified. These included four quantitative polymerase chain reaction (qPCR) m assays, four digital PCR (dPCR) m assays, and twelve next-generation sequencing (NGS)-based assays that all varied by m coverage, sensitivity, and specificity. EXPERT OPINION: A range of commercial assays are available for m detection in liquid biopsies from patients with HR-positive/HER2-negative ABC, and more are in development, with increasing clinical demand. qPCR, dPCR, and NGS assays can detect common m with differing sensitivity and specificity depending on the assay and amount of input DNA. Assay selection will vary depending on analytical performance, turnaround times, lab infrastructure and expertise, healthcare setting, and regional variation in market costs.
INTRODUCTION: Molecular diagnostics in Low- and Middle-Income Countries (LMICs) face significant barriers: limited expertise, geographical access, and infrastructure. These impede effective disease management and public...INTRODUCTION: Molecular diagnostics in Low- and Middle-Income Countries (LMICs) face significant barriers: limited expertise, geographical access, and infrastructure. These impede effective disease management and public health. Traditional workflows lack scalability and objectivity. AREAS COVERED: This review explores how Digital Pathology (DP) and Artificial Intelligence (AI) can enhance LMIC molecular diagnostics. DP, via whole slide imaging, enables remote expert consultation and quality control. AI integration automates quantitative analysis (e.g. cell counting, biomarker scoring), facilitating rapid interpretation and extending specialized diagnostic reach. We discuss successful telepathology pilots and their cost-effectiveness. The manuscript highlights DP/AI's capacity to bolster molecular screening and accelerate research, while addressing implementation barriers: infrastructure, cost, training, and regulation. EXPERT OPINION: Strategic integration of Digital Pathology (DP) and Artificial Intelligence (AI) offers an unparalleled opportunity to transform molecular diagnostics in LMICs. By providing scalable, objective, and accessible capabilities, these technologies can significantly improve public health outcomes and medical research. However, successful adoption demands targeted investment in digital infrastructure, capacity building, robust ethics, and public-private partnerships. Prioritizing direct clinical utility and molecular diagnostic applications is key to sustainable implementation and equitable access to advanced diagnostics.
PURPOSE: To construct a nomogram for predicting metabolic syndrome (MetS) in women with polycystic ovary syndrome. METHODS: In this retrospective study, we analyzed clinical and biochemical data from 859 Chinese women di...PURPOSE: To construct a nomogram for predicting metabolic syndrome (MetS) in women with polycystic ovary syndrome. METHODS: In this retrospective study, we analyzed clinical and biochemical data from 859 Chinese women diagnosed with PCOS. Univariable logistic regression and forward stepwise logistic regression were employed to identify independent predictors of MetS. A predictive nomogram was developed that integrates age, acne status, body mass index (BMI), fasting insulin levels (FINS), and the ApoB/ApoA ratio. The model's discriminative performance, calibration accuracy, and clinical utility were assessed using the area under the receiver operating characteristic curve (AUC), calibration curves accompanied by Brier scores, Hosmer - Lemeshow tests, decision curve analysis (DCA), and clinical impact curves (CIC). Internal validation was conducted through bootstrap resampling over 1,000 iterations. RESULTS: The nomogram exhibited strong discriminative capability with an AUC of 0.874 (95% CI: 0.850-0.899), surpassing BMI alone which had an AUC of 0.824 ( < 0.0001). Both the calibration curve and Hosmer - Lemeshow test indicated satisfactory model fit. DCA and CIC analyses suggested that the nomogram could provide net clinical benefits for risk stratification among PCOS patients. CONCLUSIONS: The proposed nomogram accurately predicts MetS risk in PCOS patients, supporting early identification and individualized management.
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 disor...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 , , or 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: 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...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.
Inoue S, Miszczyk M, Suleja A
… +15 more, Matsukawa A, Miyajima K, Dematteis A, Cormio A, Roessler N, Alfarhan AR, Tsuboi I, Kawada T, Katayama S, Iwata T, Bekku K, Karakiewicz PI, Reis LO, Araki M, Shariat SF
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 th...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 tre...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: Calcifying carotid artery atheromas (CCAAs) identified on standard dental panoramic radiographs (DPRs) have been presented as potential disease markers for cardiovascular disease (CVD). CCAAs are further li...INTRODUCTION: Calcifying carotid artery atheromas (CCAAs) identified on standard dental panoramic radiographs (DPRs) have been presented as potential disease markers for cardiovascular disease (CVD). CCAAs are further linked to several systemic disease processes (i.e. diabetes) that are also associated with periodontitis. The active matrix metalloproteinase-8 (aMMP-8) mouthrinse point-of-care-test has been extensively validated for periodontitis disease diagnostics. Calprotectin can inhibit matrix metalloproteinases and also exert significant anti-microbial activities. Recently, calprotectin has been suggested as a potential biomarker of endovascular inflammation. AREAS COVERED: This special report considers a combination of mouthrinse aMMP-8 and calprotectin in periodontitis disease diagnostics at the dentist's office for simultaneously identifying patients at risk of diabetes and CVD reviewing recent PubMed indexed findings comparing disease diagnostics by aMMP-8 and calprotectin individually and combined. EXPERT OPINION: Combining CCAA-DPRs analysis with oral fluid mouthrinse aMMP-8 and calprotectin lateral-flow immunoassays as point-of-care or chair-side tests, especially by polynomial algorithm-based machine learning technologies (including computer vision), can provide a modern, noninvasive, safe, and economical AI-based diagnostic tool. This tool can be utilized for online real-time screening of interlinked processes involving stroke, CVD, diabetes, and periodontal disease cascades. Accordingly, identified at-risk patients are then referred for necessary medical and dental interventions.
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,...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.
Soares da Silva A, Do Socorro de Mendonça Cavalcanti M, Furtado de Mendonça Belmont T
… +8 more, de Alencar Ximenes RA, da Nóbrega DN, Dos Santos Souza R, Farias ICC, Do Ó KP, Silva Vasconcelos LR, Diniz GTN, de Barros Miranda Filho D
BACKGROUND: The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verifie...BACKGROUND: The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verified the association between single nucleotide polymorphisms in the APOC3-rs2854116, ESR2-rs3020450, HFE-rs1799945 and MMP1-rs1799750 genes and lipodystrophy and its subtypes in PLWHIV receiving antiretroviral. METHODS: Design: cross-sectional study. Lipodystrophy definition was based on self-report. Genotyping of the polymorphisms was performed using real-time polymerase chain reaction. RESULTS: Lipodystrophy was reported in 204/404 participants (51%), being 89/204 with mixed lipodystrophy, 72/204 with lipohypertrophy, and 43/204 with lipoatrophy. There was no association between APOC3, HFE, and MMP1 polymorphisms and lipodystrophy. The frequency of AA genotype (=0.004/OR=3.33/CI=1.52-7.29) and of A allele (=0.031/OR=1.72/CI=1.08-2.75) of the ESR2 polymorphism was higher in individuals with lipoatrophy compared to those without lipodystrophy. In the multivariate analysis, viral load >40copies/mL (=0.037/OR=2.52/CI=1.03-6.91) and current use of zidovudine (=0.007/OR=2.97/CI=1.32-6.54) were associated with lipoatrophy. CONCLUSION: Participants with lipoatrophy had higher frequency of the AA genotype and the A allele of the ESR2-rs3020450 polymorphism. In addition, viral load >40 copies/mL and current use of zidovudine were associated with lipoatrophy, suggesting a potential involvement of this genetic variant in the pathogenesis of lipoatrophy in PLWHIV receiving antiretroviral.
INTRODUCTION: IgE-mediated 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....INTRODUCTION: IgE-mediated 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 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: This special report explores the advancements of salivary biomarkers for early detection across various cancer types. AREAS COVERED: Saliva-based liquid biopsy has emerged as a promising diagnostic tool wit...INTRODUCTION: This special report explores the advancements of salivary biomarkers for early detection across various cancer types. AREAS COVERED: Saliva-based liquid biopsy has emerged as a promising diagnostic tool with a unique capability to capture a wide range of molecular signals that may reflect systemic disease signatures. Novel platforms such as Electric Field-Induced Release and Measurement (EFIRM) and next-generation sequencing (NGS)-based techniques are introduced. This report also addresses the challenges in standardizing saliva collection and biomarkers. Saliva diagnostics hold potential in changing the landscape of cancer detection and disease monitoring. However, barriers in reproducibility, sample variability, and accessibility must be addressed. EXPERT OPINION: We anticipate that through interdisciplinary collaborations, saliva-based diagnostic tools will be brought to the frontline of clinical practices for routine screening for cancer in the future, opening doors to earlier detection and increased accessibility to precision oncology.
INTRODUCTION: Cancer is a significant health problem worldwide, emphasizing the need for new diagnostic techniques. Among various molecular techniques, loop-mediated isothermal amplification (LAMP) has gained growing int...INTRODUCTION: Cancer is a significant health problem worldwide, emphasizing the need for new diagnostic techniques. Among various molecular techniques, loop-mediated isothermal amplification (LAMP) has gained growing interest due to its rapidity, sensitivity, and cost-effectiveness. AREAS COVERED: This review discusses the use of LAMP to target genes as a biomarker for cancer detection. We performed an extensive literature search to identify relevant oncology studies on LAMP. We highlighted its working principles, advantages over conventional diagnostic methods, and potential limitations in clinical settings. EXPERT OPINION: LAMP has been reported to be an effective molecular diagnostic technique with tremendous improvements in speed, sensitivity, and affordability. Its potential as a diagnostic tool for cancer detection can provide a viable alternative to conventional diagnostic methods, particularly in low-resource environments. However, challenges such as primer design complexity, possibility of false-positive signals, and standardization issues present hindrances to clinical application. Further research and development are required for further refinement and integration into routine diagnostics. Furthermore, integrating LAMP with other molecular technologies and new platforms may render it increasingly useful in the clinical setting. Continuing research in this field is important for establishing the overall efficacy of LAMP in oncology.
INTRODUCTION: Osteoarthritis (OA) involves an inflammatory component, presenting as synovitis and systemic low-grade inflammation. Preliminary evidence suggests that anti-inflammatory treatments may offer symptomatic and...INTRODUCTION: Osteoarthritis (OA) involves an inflammatory component, presenting as synovitis and systemic low-grade inflammation. Preliminary evidence suggests that anti-inflammatory treatments may offer symptomatic and structural benefits in OA. More targeted approaches have been proposed and tested, but the means of identifying the clinical and molecular characteristics of patients with an inflammatory subtype remains unclear. Emerging evidence suggests that subsets of OA patients with significant inflammatory features, such as elevated systemic and synovial cytokine levels (e.g. IL-1, TNF-α), imaging confirmed synovitis, or tissue remodeling biomarker signatures may respond more favorably to anti-inflammatory treatments. AREAS COVERED: We provide a perspective on recent evidence supporting the existence of a clinically actionable inflammatory molecular endotype of OA. We integrate key advances from recent clinical studies, biomarker consortium datasets and imaging models, to outline potential tools for single-patient endotyping, and highlight practical considerations for recognizing an inflammatory endotype in the clinical trial setting. EXPERT OPINION: Challenges remain in standardizing tools for identifying these patients. Current methodology, including imaging and soluble biomarkers, are not yet been widely adopted in clinical practice. An improved understanding of the inflammatory endotype will be key for improving clinical trial design and identifying patient subpopulations more likely to benefit from targeted treatment.
INTRODUCTION: The urothelium of the upper tract (renal pelvis and ureter) has morphological and functional similarities to the bladder. There are also morphological similarities between the urothelial carcinoma of the up...INTRODUCTION: The urothelium of the upper tract (renal pelvis and ureter) has morphological and functional similarities to the bladder. There are also morphological similarities between the urothelial carcinoma of the upper tract (UTUC) and the bladder (UCB). However, there are differences in the embryological origin, phenotype, disease course, and response to treatment between the upper tract and bladder urothelium and their corresponding malignancies. Comprehensive genomic studies can provide valuable information about the differences between UTUC and UCB, which have diagnostic and therapeutic implications. AREAS COVERED: In this study, we have collected and compared the available literature on the next-generation sequencing (NGS) of the UTUC and compared it to UCB with a focus on the effect of genomic changes on the disease course and management. The review revealed the value of NGS in providing important information for diagnosis and management, which can result in more successful precision medicine. EXPERT OPINION: Although there are shared gene alterations between UTUC and UCB, the presence of minor genomic variations between the two site differences in the genomic alterations can explain differences in disease course. An upfront knowledge of the molecular alterations in UTUC can provide valuable information for patient care.