Expert Review Of Molecular Diagnostics[JOURNAL]
Sun
200 papers
Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations.
Safari D, Razi S, Rezaei N
Expert Rev Mol Diagn · 2025 Jul · PMID 40411425 · Publisher ↗
INTRODUCTION: In the management of breast cancer, the need for assessment of axillary status has been questionable in recent years. However, it is still applicable for making a decision on adjuvant therapy and evaluating...
INTRODUCTION: In the management of breast cancer, the need for assessment of axillary status has been questionable in recent years. However, it is still applicable for making a decision on adjuvant therapy and evaluating the prognosis. Molecular tests have been widely used for intraoperative detection of axillary lymph node metastases and have prevented a second surgery for dissection of the lymph nodes in at least 20% of the cases. Unlike histopathological examination, molecular tests do not need a specialized technologist to provide the results. AREAS COVERED: We have reviewed recent advancements in the assessment of axillary nodes by molecular studies such as one-step nucleic acid amplification (OSNA) assay and metasin test. Our work concentrated on reported thresholds for the tests, economical aspects, and newly developed devices throughout the current literature. EXPERT OPINION: Well-designed clinical trials on molecular assays could lead to individualized management of the axillary, while preventing additional surgical operations in a large proportion of women with breast cancer.
A novel metabolomic aging score - better than conventional metrics in predicting short-term mortality.
Liu C, Dai Y, Li X … +5 more , Xu T, Li J, Zhao G, Liu S, Li B
Expert Rev Mol Diagn · 2025 Jul · PMID 40394731 · Publisher ↗
INTRODUCTION: Accurate prediction of short-term mortality is crucial for optimizing clinical prognosis and providing treatment decisions. Conventional metrics, including physiological indicators, laboratory indexes and s...
INTRODUCTION: Accurate prediction of short-term mortality is crucial for optimizing clinical prognosis and providing treatment decisions. Conventional metrics, including physiological indicators, laboratory indexes and scoring systems, suffer from limitations in comprehensiveness, accuracy, and dynamism. In contrast, the metabolomic aging score, as an emerging biomarker, offers substantial promise in short-term mortality prediction. AREAS COVERED: By integrating multiple metabolites associated with aging and mortality, the score captures dynamic metabolic shifts, providing a real-time reflection of an individual's health status. This approach enables a more precise assessment of short-term mortality risk across diverse diseases, setting it apart from traditional, disease-specific biomarkers. In addition, the metabolic aging score also shows great application prospects in identifying susceptible populations and providing individualized precision medication. This article discusses the novel role of the metabolomic aging score in mortality prediction, highlighting its superior accuracy compared to conventional metrics. EXPERT OPINION: This score has broad application prospects in the future and also faces challenges such as large-scale validation and standardization. Furthermore, the integration of artificial intelligence (AI) is poised to enhance the clinical utility of the metabolomic aging score, advancing its potential to transform healthcare practices.
Neurofilament light chain as a biomarker for neuronal injury in CNS infections.
Hagberg L, Zetterberg H, Gisslén M
Expert Rev Mol Diagn · 2025 Aug · PMID 40392201 · Publisher ↗
INTRODUCTION: In this special report, we summarize studies of cerebrospinal fluid and plasma/serum biomarker neurofilament light chain (NfL) concentrations, a key structural component of myelinated axons in neuroinfectio...
INTRODUCTION: In this special report, we summarize studies of cerebrospinal fluid and plasma/serum biomarker neurofilament light chain (NfL) concentrations, a key structural component of myelinated axons in neuroinfections. AREAS COVERED: The following infections were searched for in PubMed; Neuroinfection and biomarkers, herpes simplex encephalitis and neurofilament light chain, tick-borne encephalitis and neurofilament light chain, Lyme neuroborreliosis and neurofilament light chain, bacterial meningitis and neurofilament light chain, malaria and neurofilament light chain, COVID-19 and neurofilament light chain, HIV infection and neurofilament light chain. EXPERT OPINION: NfL can serve as a valuable biomarker for assessing disease severity and neurological complications in the acute stage of neuroinfections and can also be useful in evaluating patients with residual symptoms following acute illness.
Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging.
Sharma R, Komal K, Kumar S … +4 more , Ghosh R, Pandey P, Gupta GD, Kumar M
Expert Rev Mol Diagn · 2025 Jul · PMID 40388321 · Publisher ↗
INTRODUCTION: Pancreatic Cancer (PC) is a highly aggressive tumor that is mainly diagnosed at later stages. Various imaging technologies, such as CT, MRI, and EUS, possess limitations in early PC diagnosis. Therefore, th...
INTRODUCTION: Pancreatic Cancer (PC) is a highly aggressive tumor that is mainly diagnosed at later stages. Various imaging technologies, such as CT, MRI, and EUS, possess limitations in early PC diagnosis. Therefore, this review article explores the various innovative biomarkers for PC detection, such as DNA methylation, Noncoding RNAs, and proteomic biomarkers, and the role of AI in PC detection at early stages. AREA COVERED: Innovative biomarkers, such as DNA methylation genes, show higher specificity and sensitivity in PC diagnosis. Additionally, various non-coding RNAs, such as long non-coding RNAs (lncRNAs) and microRNAs, show high diagnostic accuracy and serve as diagnostic and prognostic biomarkers. Additionally, proteomic biomarkers retain higher diagnostic accuracy in different body fluids. Apart from this, the utilization of AI showed that AI surpassed the radiologist's diagnostic performance in PC detection. EXPERT OPINION: The combination of AI and advanced biomarkers can revolutionize early PC detection. However, large-scale, prospective studies are needed to validate its clinical utility. Further. standardization of biomarker panels and AI algorithms is a vital step toward their reliable applications in early PC detection, ultimately improving patient outcomes. [Figure: see text].
Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma.
Šúri A, Mociková H
Expert Rev Mol Diagn · 2025 Jun · PMID 40354563 · Publisher ↗
INTRODUCTION: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is a rare but serious condition requiring accurate diagnostics. Cerebrospinal fluid (CSF) analysis plays a crucial role, par...
INTRODUCTION: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is a rare but serious condition requiring accurate diagnostics. Cerebrospinal fluid (CSF) analysis plays a crucial role, particularly in cases where biopsy is not feasible, and imaging is inconclusive. AREAS COVERED: Chemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including circulating tumor DNA (ctDNA) analysis and microRNAs (miRNAs), are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data.This review examines both traditional and emerging methods for CSF analysis in diagnosing CNS involvement in DLBCL. Conventional approaches such as cytomorphology, flow cytometry, and biochemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including ctDNA analysis and miRNAs, are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data. EXPERT OPINION: Advancements in CSF biomarker analysis are improving the diagnosis of CNS lymphoma, aiding early detection and personalized treatment approaches. However, further research and broader clinical validation are necessary for their routine implementation.
Saliva-based Hormone Diagnostics: advances, applications, and future perspectives.
Ferrari CR, Moraes SM, Buzalaf MAR
Expert Rev Mol Diagn · 2025 Jul · PMID 40354119 · Publisher ↗
INTRODUCTION: Saliva has emerged as an important biological fluid for diagnostics, particularly hormone analysis. Its noninvasive collection and accessibility make it a compelling alternative to traditional blood-based d...
INTRODUCTION: Saliva has emerged as an important biological fluid for diagnostics, particularly hormone analysis. Its noninvasive collection and accessibility make it a compelling alternative to traditional blood-based diagnostics, enabling detection of biomarkers reflecting physiological and pathological conditions. AREAS COVERED: This review examines hormones measurable in saliva, including cortisol, testosterone, progesterone, estradiol, dehydroepiandrosterone (DHEA), and others. It highlights methods such as Enzyme-Linked Immunosorbent Assay (ELISA), Radioimmunoassay, and Liquid Chromatography coupled with Tandem Mass Spectrometry (LC-MS/MS) for hormonal analysis, focusing on their sensitivity and challenges. The discussion addresses the advantages and limitations of saliva as a diagnostic medium, including practicality and susceptibility to external influences. Clinical applications are explored, including stress monitoring, hormonal dysfunction diagnosis, and applications in personalized medicine. EXPERT OPINION: Salivary diagnostics holds significant potential in clinical and research contexts, particularly for hormone analysis. Despite challenges such as hormonal variability and technical limitations, advances are steadily overcoming these barriers. The noninvasive and accessible nature of saliva collection positions it as a promising medium for diagnostic innovation. Continued research, coupled with standardization of techniques, will be critical to fully harnessing saliva-based diagnostics for advancing personalized medicine, influencing the detection, diagnosis, and prognosis of certain conditions.
Biomarker guided immunomodulatory precision medicine to improve prognostic, predictive and adaptive enrichment strategies in sepsis trials.
Alevizou A, Soulioti P, Giamarellos-Bourboulis EJ … +1 more , Safarika A
Expert Rev Mol Diagn · 2025 Jul · PMID 40347479 · Publisher ↗
INTRODUCTION: The aim of this review is to summarize the advances of the last 5 years in the field of biomarker-guided therapeutic approach in sepsis through prognostic, predictive, and adaptive enrichment strategies. AR...
INTRODUCTION: The aim of this review is to summarize the advances of the last 5 years in the field of biomarker-guided therapeutic approach in sepsis through prognostic, predictive, and adaptive enrichment strategies. AREAS COVERED: A thorough search of the literature was done based on the existing biomarkers for which clinical trials of integration in the inclusion criteria are available. The authors reviewed the accessible completed and ongoing studies, which use IL-6, ferritin, IL-7, sTREM-1, IL-15, HLA-DR, DPP-3 and/or bioADM for diagnosis of sepsis or septic shock, prognosis of outcome of interest or/and personalized treatment tailored to each patient's endotype classification. EXPERT OPINION: Inconclusive sepsis trial outcomes highlight the need for strategic protocol design, patient stratification, and biomarker-guided immunomodulatory therapies. Future advancements should focus on real-time biomarker monitoring, personalized treatment, and point-of-care diagnostics to optimize therapeutic efficacy and patient outcomes.
The use of metagenomics to enhance diagnosis of encephalitis.
Buddle S, Torres Montaguth OE, Morfopoulou S … +2 more , Breuer J, Brown JR
Expert Rev Mol Diagn · 2025 Jun · PMID 40329854 · Publisher ↗
INTRODUCTION: Encephalitis has a broad etiology, including infectious and auto-immune causes. In infectious encephalitis, the breadth of causative organisms results in incomplete testing and low diagnostic yields.Metagen...
INTRODUCTION: Encephalitis has a broad etiology, including infectious and auto-immune causes. In infectious encephalitis, the breadth of causative organisms results in incomplete testing and low diagnostic yields.Metagenomics sequences all DNA and RNA allowing untargeted detection of all organisms in a single specimen; this is of particular use in diagnosis of encephalitis with a broad etiology. AREAS COVERED: We review the literature and discuss metagenomics workflows, host depletion and pathogen enrichment methods, bioinformatics analysis and potential analysis of the host transcriptome to aid diagnosis. We discuss the clinical use of metagenomics for diagnosis of neurological infection including time to result, cost, quality assurance, patient cohorts in whom metagenomics adds the most value, recommended specimen types, limitations and review published cases in which metagenomics has been used to diagnose encephalitis. EXPERT OPINION: There is good evidence for the utility of metagenomics to diagnose infection in encephalitis. Due to infections with rare, unexpected or novel pathogens, metagenomics adds most value to diagnosis in immunocompromised patients and the greatest diagnostic yield is in brain biopsies. Technical advances are needed to reduce the complexity, cost and time to result which will enable wider adoption in clinical laboratories and use as a first-line test.
Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction - focus on large B-cell lymphomas and follicular lymphomas.
Hamova I, Maco M, Tkachenko A … +5 more , Kupcova K, Velasova A, Trneny M, Mocikova H, Havranek O
Expert Rev Mol Diagn · 2025 Jun · PMID 40326242 · Publisher ↗
INTRODUCTION: Pathogenesis of large B-cell lymphomas (LBCL) and follicular lymphomas (FL) is a multistep process associated with the development of diverse DNA alterations and consequent deregulation of critical cellular...
INTRODUCTION: Pathogenesis of large B-cell lymphomas (LBCL) and follicular lymphomas (FL) is a multistep process associated with the development of diverse DNA alterations and consequent deregulation of critical cellular processes. Detection of tumor-associated mutations within non-tumor compartments (mainly plasma) is the basis of the 'liquid biopsy' concept. Apart from tumor mutational profiling, quantitative analysis of circulating tumor DNA (ctDNA) allows longitudinal assessment of tumor burden. ctDNA-based technologies provide a new tool for tumor diagnostics and treatment personalization. AREAS COVERED: Our review provides a comprehensive overview and summary of available ctDNA studies in LBCL and FL. The accuracy of ctDNA-based detection of lymphoma-associated DNA alterations is correlated to known LBCL and FL molecular landscape. Additionally, we summarized available evidence that supports and justifies the clinical use of ctDNA for lymphoma risk stratification, treatment response evaluation, and treatment response-adapted therapy. Lastly, we discuss other clinically important ctDNA applications: monitoring of lymphoma clonal evolution within resistance and/or relapse development and utilization of ctDNA for diagnostics in non-blood fluids and compartments (e.g. cerebrospinal fluid in primary CNS lymphomas). EXPERT OPINION: Despite certain challenges, including methodological standardization, ctDNA holds promise to soon become an integral part of lymphoma diagnostics and treatment management.
The integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome.
Chen YC, Kuo HC
Expert Rev Mol Diagn · 2025 Jun · PMID 40319375 · Publisher ↗
INTRODUCTION: Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) is a chronic condition characterized by debilitating bladder pain and urinary symptoms, such as urgency and frequency. Its considerable impact on patient...
INTRODUCTION: Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) is a chronic condition characterized by debilitating bladder pain and urinary symptoms, such as urgency and frequency. Its considerable impact on patients' quality of life is compounded by the diagnostic challenges stemming from symptom overlap with other urological disorders and insufficient standardization of diagnostic criteria. AREAS COVERED: This review examines various key aspects of IC/BPS, including the identification of biomarkers such as interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), monocyte chemotactic protein-1 (MCP-1) and vascular endothelial growth factor (VEGF) that correlate with symptom severity and underlying inflammatory processes. It discusses the importance of urinary and serum biomarkers, current challenges in clinical assessments, the variability in biomarker collection and analysis methods, and emphasizes the role of patient-reported outcomes (PROs) such as the O'Leary - Sant (ICSI/ICPI) questionnaires and the Visual Analogue Scale in capturing the patient's subjective experience and quality of life. EXPERT OPINION: Strengthening the integration of biomarkers with PROs is crucial for enhancing diagnostic accuracy and personalizing treatment approaches for IC/BPS patients. The review calls for future research to develop standardized protocols, which will improve patient care by facilitating a more tailored management strategy based on a comprehensive understanding of IC/BPS.
hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy.
Saini A, Kansal H, Singh N … +1 more , Sharma S
Expert Rev Mol Diagn · 2025 Oct · PMID 40310442 · Publisher ↗
BACKGROUND: The hTERT gene is an essential part of the telomerase enzyme, preserving telomere length and encouraging cellular immortality. The study aimed to investigate whether the TERT gene SNP was associated with an i...
BACKGROUND: The hTERT gene is an essential part of the telomerase enzyme, preserving telomere length and encouraging cellular immortality. The study aimed to investigate whether the TERT gene SNP was associated with an increased risk of lung cancer in the North Indian population. RESEARCH DESIGN AND METHODS: 387 lung cancer patients undergoing platinum-based chemotherapy and 384 healthy controls were genotyped for the TERT variant rs2735940 (T>C) using PCR-RFLP. The study aimed to determine the significant association between the TERT genetic variant and lung cancer risk. RESULTS: Patients carrying homozygous mutant genotype (CC) for rs2735940 showed a significant association (0 R = 2.4, = 0.03). Furthermore, in dominant model, the combination genotype (TC+CC) showed an increased risk of lung cancer susceptibility with an AOR of 1.67 ( = 0.0016). For TERT rs2735940, individuals with SCLC carrying the mutant genotype (CC) were significantly more likely to develop lung cancer ( = 0.0004). Our results also showed that lung cancer patients carrying the TERT rs2735940 genetic variant who received a combination of docetaxel and cisplatin/carboplatin had better prognosis as compared to alternative chemotherapy regimens. CONCLUSION: Our study associates' chemotherapy toxicities in North Indian lung cancer patients and the TERT polymorphism rs2735940, delivering insights for improving biomarker development and individualized treatment.
Advances in pediatric sepsis biomarkers - what have we learnt so far?
Su W, Fan M, Shen W … +8 more , Wang X, Li R, Lu L, Wu J, Yao K, Wang Q, Qian S, Yu D
Expert Rev Mol Diagn · 2025 May · PMID 40302489 · Publisher ↗
INTRODUCTION: Sepsis is a systemic immune dysregulation syndrome triggered by secondary infection in the host, with diagnosis based on the updated Phoenix criteria and characterized by multi-organ failure as its core pat...
INTRODUCTION: Sepsis is a systemic immune dysregulation syndrome triggered by secondary infection in the host, with diagnosis based on the updated Phoenix criteria and characterized by multi-organ failure as its core pathological manifestation. It is a significant global health challenge due to its increasing incidence and high mortality rates. Recent advancements in biomarker research provide promising tools for improving early diagnosis and timely intervention, essential for better patient outcomes. AREAS COVERED: This review examines the latest developments in pediatric sepsis biomarkers, categorized by inflammation, metabolism, organ damage, and non-coding RNAs (miRNAs, LncRNAs). We discuss the advancements in each category, highlighting the integration of diverse biomarkers and advanced technologies to enhance diagnostics, personalize therapy, and improve patient stratification. EXPERT OPINION: Given the limited specificity and sensitivity of current markers like CRP and PCT, multicenter studies are crucial for validating new biomarkers and for developing comprehensive panel markers that combine multiple diagnostic indicators. It is also important to consider the variability in host responses to different pathogens when identifying biomarkers based on host-pathogen interactions. To advance personalized medicine, future research may prioritize the identification of specific diagnostic biomarkers for pediatric sepsis, tailored to different pathogens.
Genetic variant in associated with gastric cancer susceptibility and the binding with .
Sun Q, Zhang Y, Yang Q … +5 more , Chen X, Wang Y, Hou Y, Zhang Y, Wang K
Expert Rev Mol Diagn · 2025 Aug · PMID 40293157 · Publisher ↗
BACKGROUND: This study aims to assess the association between lncRNA- single nucleotide polymorphisms (SNPs) and susceptibility to gastric cancer in the Chinese Han population. RESEARCH DESIGN AND METHODS: Four functiona...
BACKGROUND: This study aims to assess the association between lncRNA- single nucleotide polymorphisms (SNPs) and susceptibility to gastric cancer in the Chinese Han population. RESEARCH DESIGN AND METHODS: Four functional SNPs (rs911157, rs16981280, rs2273534, and rs957313) were validated using bioinformatics analysis and genotyped in 490 patients and 490 controls. A case-control study was conducted to analyze the association between NKILA SNPs and gastric cancer risk. qRT-PCR was conducted to detect the NKILA expression in plasma of different rs911157 and rs16981280 genotypes. The effect of rs16981280 C>T mutation on the binding ability of NKILA and miR-6731-5p was verified by dual-luciferase experiment. RESULTS: In this study, rs911157 CT genotype (:1.72, :1.20-2.69) was associated with an increased risk of gastric cancer, whereas rs16981280 CG (:0.64, :0.48-0.85) and GG genotypes (:0.56, :0.36-0.87) were associated with a reduced risk. The population attributable risk percentage for rs911157 T-carriers was below 10%, while for the rs16981280 CC genotype was approximately 15%. Rs911157 C carried a binding site with while T allele might cause the target loss. CONCLUSIONS: In summary, polymorphism might be related to the susceptibility of gastric cancer. rs911157 C/T genotype probably affects the function of gastric cancer cells by modulating the interactions with of .
Applications of ctDNA testing to monitor and detect residual disease in breast cancer.
Chen JH, Geng Y, Lucci A
Expert Rev Mol Diagn · 2025 Jun · PMID 40288891 · Publisher ↗
INTRODUCTION: In recent years, circulating tumor DNA (ctDNA) has emerged as a promising method for detection of minimal or molecular residual disease (MRD) among patients with breast cancer. AREAS COVERED: In this narrat...
INTRODUCTION: In recent years, circulating tumor DNA (ctDNA) has emerged as a promising method for detection of minimal or molecular residual disease (MRD) among patients with breast cancer. AREAS COVERED: In this narrative review, we provide a summary of currently available studies assessing use of ctDNA in detection of MRD in patients after completion of curative therapy. Additionally, we discuss limitations of present studies, future considerations, and an overview of ongoing trials evaluating the clinical utility of MRD-directed therapy interventions. EXPERT OPINION: While the clinical utility of MRD-directed therapy guidance remains under investigation, collective data from studies overwhelmingly confirm the prognostic value of ctDNA status across various stages and subtypes of breast cancer. Results from ongoing clinical trials in the coming years will provide more clarity on the overall clinical benefit of MRD-directed interventions for breast cancer patients.
A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma.
Garg N, Krishna R, Urs AB … +2 more , Kumar P, Augustine J
Expert Rev Mol Diagn · 2025 Jul · PMID 40285826 · Publisher ↗
BACKGROUND: Ameloblastic carcinoma (AC), malignancy originating from the odontogenic epithelium, shows histological overlap with ameloblastoma (AM). In order to unravel mechanisms driving AC, it is imperative to understa...
BACKGROUND: Ameloblastic carcinoma (AC), malignancy originating from the odontogenic epithelium, shows histological overlap with ameloblastoma (AM). In order to unravel mechanisms driving AC, it is imperative to understand the molecular distinction between these two entities. This systematic review aims to highlight molecular and immunohistochemical markers involved in the pathogenesis of AC and to distinguish it from its histological mimic, AM. RESEARCH DESIGN AND METHODS: Literature search across three databases including PubMed, Web of Sciences, and Scopus was carried out from year 1999 to 2023 for original human case control studies involving AM, AC, and controls as study groups. Various biological markers studied in the literature were grouped based on principal molecular pathways. Joanna Briggs Institute (JBI), a critical appraisal tool for case control studies, was used to assess the risk of bias (RoB). RESULTS: Out of the 277 studies identified during the initial search, 28 studies were found eligible. These studies reported expression of various immunohistochemical (IHC), genetic and epigenetic markers in AC, AM, and controls through immunohistochemistry and gene sequencing. CONCLUSION: Stem cells, epigenetics, and growth factors define the pathways involved in pathogenesis of AC and may prove to be a potential therapeutic target in the future.
Cytokines as biomarkers of Huntington's disease progression.
Rocha NP, Furr-Stimming E, Teixeira AL
Expert Rev Mol Diagn · 2025 Jul · PMID 40279403 · Publisher ↗
Abstract loading — click title to view on PubMed.
Evaluation of ctDNA-based testing in breast cancer: results from the first external quality assessment scheme in China.
Lin G, Li J, Zhang K
Expert Rev Mol Diagn · 2025 Jun · PMID 40277432 · Publisher ↗
BACKGROUND: Circulating tumor DNA (ctDNA) testing of plasma for ESR1 somatic variants is essential for guiding treatment decisions in hormone receptor-positive (HR + ) and HER2-negative (HER2-) advanced or metastatic b...
BACKGROUND: Circulating tumor DNA (ctDNA) testing of plasma for ESR1 somatic variants is essential for guiding treatment decisions in hormone receptor-positive (HR + ) and HER2-negative (HER2-) advanced or metastatic breast cancer (MBC) patients who have progressed on frontline therapy. To ensure optimal, uniform, and reliable ESR1 testing across China, an pilot external quality assessment (EQA) scheme was established. METHODS: Aliquots of five artificial reference plasma samples containing ESR1 mutations at varying allelic frequencies were distributed to 37 laboratories for testing and reporting according to routine procedures. The genotyping accuracy and clinical reporting were evaluated against standardized criteria, and feedback was provided to the participants. RESULTS: The overall genotyping error rate in the EQA was 6.29%, with 91.4% of laboratories correctly identifying the ESR1 mutational status in all samples. A variety of extraction methods and analytical techniques were employed. However, reports often failed to address the risk that tumor DNA may not have been tested, and the limitations of the methodologies used by participants were insufficiently discussed. CONCLUSION: The variability in genotyping accuracy and reporting standards underscores the importance of EQA and educational guidance to ensure the provision of high-quality clinical services.
Multi-omic profiling in breast cancer: utility for advancing diagnostics and clinical care.
El Gazzah E, Parker S, Pierobon M
Expert Rev Mol Diagn · 2025 May · PMID 40193192 · Publisher ↗
INTRODUCTION: Breast cancer remains a major global health challenge. While advances in precision oncology have contributed to improvements in patient outcomes and provided a deeper understanding of the biological mechani...
INTRODUCTION: Breast cancer remains a major global health challenge. While advances in precision oncology have contributed to improvements in patient outcomes and provided a deeper understanding of the biological mechanisms that drive the disease, historically, research and patients' allocation to treatment have heavily relied on single-omic approaches, analyzing individual molecular dimensions such as genomics, transcriptomics, or proteomics. While these have provided deep insights into breast cancer biology, they often fail to offer a complete understanding of the disease's complex molecular landscape. AREAS COVERED: In this review, the authors explore the recent advancements in multi-omic research in the realm of breast cancer and use clinical data to show how multi-omic integration can offer a more holistic understanding of the molecular alterations and their functional consequences underlying breast cancer. EXPERT OPINION: The overall developments in multi-omic research and AI are expected to complement precision diagnostics through potentially refining prognostic models, and treatment selection. Overcoming challenges such as cost, data complexity, and lack of standardization is crucial for unlocking the full potential of multi-omics and AI in breast cancer patient care to enable the advancement of personalized treatments and improve patient outcomes.
Advances in biomarkers in multiple system atrophy.
Bougea A
Expert Rev Mol Diagn · 2025 May · PMID 40181586 · Publisher ↗
INTRODUCTION: In order to improve illness identification, monitoring, and patient outcomes, this special report emphasizes the revolutionary potential of fluid and imaging biomarkers using new diagnostic technologies in...
INTRODUCTION: In order to improve illness identification, monitoring, and patient outcomes, this special report emphasizes the revolutionary potential of fluid and imaging biomarkers using new diagnostic technologies in Multiple system atrophy (MSA). AREAS COVERED: Innovations like multiplex seeding aggregation assays (SAA), 18FDG-Positron Emission Tomography (PET), and SPECT) are changing the diagnostic landscape. These techniques make it easier to detect MSA early and offer noninvasive monitoring choices. Although neurofilament light chain measurements in blood and cerebrospinal fluid (CSF), as well as α-synuclein-based diagnostic biomarkers in CSF, are recognized as both diagnostic and surrogatemarkers of disease progression in MSA, their application in clinical practiceis limited to research. Some efforts are being made in the development ofselective α- synucleinPET tracers despite numerous barriers in visualizing intracellular localization of α-synuclein. The primary drawbacks include the high expense of SAA and imaging technologies, the paucity of multicenter longitudinal investigations, and the lack of uniformity of the prοtocols. The research highlights that to successfully solve these restrictions, stakeholders must continue to collaborate. EXPERT OPINION: A multi-dimensional biomarker system of MSA patients maximizes the power of contemporary diagnostics to enhance MSA care by prioritizing the ongoing evaluation of multi-omics data.
Extracellular vesicles as source of biomarkers in hematological malignancies: looking towards clinical applications.
Ielo C, Breccia M
Expert Rev Mol Diagn · 2025 Jun · PMID 40178353 · Publisher ↗
INTRODUCTION: Extracellular vesicles are membranous particles released by cells in physiological and pathological conditions. Their cargo is heterogeneous since it includes different biomolecules such as nucleic acids an...
INTRODUCTION: Extracellular vesicles are membranous particles released by cells in physiological and pathological conditions. Their cargo is heterogeneous since it includes different biomolecules such as nucleic acids and proteins. Oncogenic alterations affect the composition of extracellular vesicles and model their content during cancer evolution. AREAS COVERED: This review provides an overview of the studies focused on extracellular vesicles as source of biomarkers in hematological malignancies. A special insight into extracellular vesicles-derived biomarkers as tools for evaluating the prognosis of hematological malignancies and their response to treatment is given. EXPERT OPINION: Extracellular vesicles are a valuable source of biomarkers in hematological malignancies. However, the translation from the bench to the bedside is challenged by the lack of standardization of the preanalytical variables of the experimental workflow. The release of standard operating procedures and the validation of the extracellular vesicles-derived biomarkers in large cohort of patients will help in exploiting the potential of extracellular vesicles in the clinical setting.
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