The Journal of Liquid Biopsy最新文献

{"title":"Analytical and clinical validation of a novel CE-IVD kit for PIK3CA hotspot mutations in liquid biopsy samples","authors":"Dimitra Stergiopoulou ,&nbsp;Stavroula Smilkou ,&nbsp;Elena Tzanikou ,&nbsp;Loukas Kaklamanis ,&nbsp;Vassilis Georgoulias ,&nbsp;Ioanna Koukli ,&nbsp;Athina Markou ,&nbsp;Evi Lianidou","doi":"10.1016/j.jlb.2026.100458","DOIUrl":"10.1016/j.jlb.2026.100458","url":null,"abstract":"<div><div><em>PIK3CA</em> mutations have been implicated in the prognosis and therapeutic response in HER2-positive early breast cancer, with variants located in exon 9 and exon 20 shown to modulate sensitivity to neoadjuvant chemotherapy. Several molecular diagnostic platforms based on PCR or NGS have been developed for the detection of <em>PIK3CA</em> mutations in both tumor tissues and plasma-derived cfDNA, and some commercially available assays have already received FDA approval. The aim of this study was to evaluate the analytical and clinical performance of a novel CE-IVD molecular assay (Oncolipsy, <em>PIK3CA</em> kit, Pharmassist, Greece) for hotspot PIK3CA mutations (p.E542K, p.E545K, p.E545Q, p.H1047R) in liquid biopsy (LB) specimens. Analytical validation included assessment of sensitivity, specificity and reproducibility using certified liquid biopsy reference standards. Subsequently, the clinical utility of the assay was evaluated by analyzing plasma-cfDNA, CTC-derived gDNA and primary tumor samples for <em>PIK3CA</em> hotspot mutations. A total of 55 peripheral blood samples from breast cancer (BrCa) patients and 30 primary tumors (FFPEs) were examined. The same samples were also tested with two commercially available assays, the cobas® <em>PIK3CA</em> Mutation Test (Roche Diagnostics) and the ddPCR <em>PIK3CA</em> mutation test (BioRad), and the results were directly compared. Our findings demonstrate that the Oncolipsy <em>PIK3CA</em> kit exhibits high analytical detectability and excellent specificity for detecting <em>PIK3CA</em> hotspot mutations, at low variant allele frequencies. Clinical evaluation confirmed its robustness for liquid biopsy applications, with p.H1047R identified as the most frequent <em>PIK3CA</em> mutation. Concordance with both commercially available assays was high, with minor discrepancies attributable to differences in mutation coverage or detection thresholds. In conclusion, the CE-IVD Oncolipsy <em>PIK3CA</em> kit represents a highly detectability, specific and cost-effective real-time PCR-based solution for high throughput detection of four clinically relevant <em>PIK3CA</em> hotspot mutations in liquid biopsy samples.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100458"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147313934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell-free RNA profiling uncovers non-canonical circulating D2 transcript elevation in Bladder Cancer plasma","authors":"Annarita Nappi ,&nbsp;Felice Crocetto ,&nbsp;Paolo Conforti ,&nbsp;Serena Sagliocchi ,&nbsp;Annunziata Gaetana Cicatiello ,&nbsp;Federica Restolfer ,&nbsp;Lucia Acampora ,&nbsp;Silvia Del Mastro ,&nbsp;Rosa Sirica ,&nbsp;Lorenzo Spirito ,&nbsp;Francesco Del Giudice ,&nbsp;Roberto La Rocca ,&nbsp;Daniela Terracciano ,&nbsp;Monica Dentice ,&nbsp;Caterina Miro","doi":"10.1016/j.jlb.2025.100454","DOIUrl":"10.1016/j.jlb.2025.100454","url":null,"abstract":"<div><h3>Background</h3><div>D2 overexpression has emerged as a recurrent molecular feature across multiple cutaneous malignancies, where it contributes to aberrant Thyroid Hormone (TH) activation and tumor-associated metabolic reprogramming. Liquid biopsy approaches based on circulating cell-free RNA (cfRNA) is emerging as non-invasive strategy to profile gene expression alterations and support dynamic monitoring of transcriptional changes during disease progression.</div></div><div><h3>Methods</h3><div>We analyzed 54 plasma samples from patients with BLadder CAncer (BLCA) alongside an equivalent cohort of healthy control individuals. Circulating D2 transcripts were quantified after RNA isolation using a modified phenol-chloroform extraction protocol adapted for low-input plasma samples to maximize retrieval of circulating RNA.</div></div><div><h3>Results</h3><div>D2 transcripts were readily detectable in plasma and showed significantly higher levels in BLCA patients compared with healthy controls. Circulating expression of classical urothelial markers GATA3 and UPK3A, as well as Epithelial-to-Mesenchymal Transition (EMT)-related genes (E-Cadherin, N-Cadherin, Vimentin), was likewise increased in BLCA plasma. However, correlation analyses revealed that D2 expression varied independently from GATA3 and UPK3A across both tumor and non-tumor groups.</div></div><div><h3>Conclusions</h3><div>These findings demonstrate that D2 is detectably elevated in the circulation of BLCA patients and captures tumor-associated transcriptional alterations that are independent of established urothelial markers. The distinct, non-redundant behavior of circulating D2 supports its potential value as a complementary biomarker for minimally invasive molecular profiling of BLCA. Further studies are required to define its diagnostic performance and clinical applicability.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100454"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"End-repair causes methylation underestimation in cell-free DNA sequencing libraries","authors":"Tobin E. Groth,&nbsp;Andrew A. Mishin,&nbsp;Varsha Rao,&nbsp;Ruby Tibet,&nbsp;Christopher J. Troll","doi":"10.1016/j.jlb.2026.100455","DOIUrl":"10.1016/j.jlb.2026.100455","url":null,"abstract":"<div><div>Cell-free DNA methylation sequencing provides insight into tissue of origin and chromatin structure. In some workflows, generating libraries includes end-repair. Using matched single-stranded and double-stranded libraries prepared from the same cfDNA extracts, we show that end-repair in double-stranded DNA libraries reduces globally inferred CpG methylation leading to decreased tissue of origin accuracy. Trimming read termini partially mitigates this bias but decreases coverage and removes fragmentomic information compared to single-stranded DNA libraries, which forego end-repair.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100455"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145928179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liquid biopsy in Oncology: Results of a Delphi consensus study endorsed by the AIOM-SIAPEC/IAP-SIBioC-SIF Italian scientific societies","authors":"Valerio Gristina ,&nbsp;Umberto Malapelle ,&nbsp;Gennaro Daniele ,&nbsp;Giovanni Maria Iannantuono ,&nbsp;Tancredi Didier Bazan Russo ,&nbsp;Rossana Berardi ,&nbsp;Giordano Domenico Beretta ,&nbsp;Ettore Domenico Capoluongo ,&nbsp;Marcello Ciaccio ,&nbsp;Romano Danesi ,&nbsp;Marzia Del Re ,&nbsp;Matteo Fassan ,&nbsp;Giuseppe Giuffrè ,&nbsp;Stefania Gori ,&nbsp;Lorena Incorvaia ,&nbsp;Antonio Marchetti ,&nbsp;Nicola Normanno ,&nbsp;Carmine Pinto ,&nbsp;Daniele Santini ,&nbsp;Andrea Sartore Bianchi ,&nbsp;Antonio Russo","doi":"10.1016/j.jlb.2025.100453","DOIUrl":"10.1016/j.jlb.2025.100453","url":null,"abstract":"<div><div>Liquid biopsy (LB) offers a minimally invasive alternative to tissue biopsy by detecting tumor-derived analytes in biological fluids. Nonetheless, its adoption is limited by variability in methodologies. Therefore, this study used a modified RAND/UCLA approach involving 23 experts of the field, providing two questionnaires that assessed agreement on 22 items. Consensus was reached for all the pre- and post-analytical phase items, agreeing on the pivotal role of plasma cfDNA. Conversely, opinions varied regarding other biomarkers and biological samples. Furthermore, turnaround time and disease setting resulted as two of the most important analytical parameters for choosing testing methodology. Particularly, a complementary tissue-liquid approach with sampling interval ≤2 weeks was preferred. To conclude, a strong consensus on sample handling, biomarker prioritization, and clinical applications is achieved. However, significant heterogeneity remains regarding novel biomarkers, sampling strategies, and costs. Standardization and validation are needed to enhance the clinical adoption of LB.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100453"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145852439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Direct detection of rare circulating tumor cells in peripheral blood mononuclear cells by scRNA seq: Spike-in strategy based feasibility study","authors":"Shivam Kumar ,&nbsp;Divya Janjua ,&nbsp;Udit Joshi,&nbsp;Tanya Tripathi,&nbsp;Apoorva Chaudhary,&nbsp;Neha Tanwar,&nbsp;Anmol,&nbsp;Aastha Mittal,&nbsp;Alok Chandra Bharti","doi":"10.1016/j.jlb.2026.100457","DOIUrl":"10.1016/j.jlb.2026.100457","url":null,"abstract":"<div><h3>Background</h3><div>Circulating tumor cells (CTC) provide a minimally invasive window into metastatic disease but are difficult to detect and estimate due to their rarity and heterogeneity. Conventional enrichment-based approaches introduce selection bias and fail to capture diverse CTC populations. Single-cell RNA sequencing (scRNA seq) enables unbiased transcriptomic profiling of diverse cell types and rare population within complex samples like blood. Here, we evaluated feasibility of a computational spike-in framework to assess the sensitivity and specificity of scRNA seq based CTC detection in a peripheral blood background.</div></div><div><h3>Methods</h3><div>Three PBMC datasets comprising 20,871; 14,367; and 13,731 cells were created by merging Cell Ranger-derived raw matrices from 12 PBMC samples (4 per dataset). Cervical cancer (CaCx) dataset (SRR13927092) raw matrices were prepared similarly. CaCx cells were randomly selected and spiked at levels of 50, 25, 10, 5, and 2 cells into each dataset, with three replicates per level. Linear regression, limit of detection (LOD) and limit of quantification (LOQ) estimation, were performed.</div></div><div><h3>Results</h3><div>Unsupervised gene expression profiling revealed distinct clusters of CaCx cells in PBMCs background using k-means clustering. Clustering with k-mean value 7 resulted specific CaCx clusters. The average detection efficiency ranged from 66% to 93% for unsupervised clustering. Supervised clustering with specific epithelial markers improved identification, achieving 95%-100% detection accuracy. Linear regression showed a high coefficient of determination (R² = 0.9991). The estimated LOD was 1.0 cell, while LOQ was around 3.3 cells.</div></div><div><h3>Conclusion</h3><div>This study confirms that single-cell analysis pipelines are competent, can effectively and correctly detect rare epithelial tumor cells in PBMCs with high sensitivity and reproducibility, even at very low concentrations.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100457"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing clinical integration of circulating tumor cells: Outcomes of an international expert consensus","authors":"Massimo Cristofanilli ,&nbsp;M. Jose Serrano","doi":"10.1016/j.jlb.2025.100452","DOIUrl":"10.1016/j.jlb.2025.100452","url":null,"abstract":"","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100452"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147538723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue expression of miR-504-5p and miR-429 as diagnostic biomarkers for endometrial cancer and endometrial intraepithelial neoplasia: a pilot study","authors":"A. Manzi ,&nbsp;C. De Luca ,&nbsp;F. Conticelli ,&nbsp;B. Zizolfi ,&nbsp;M. Guida ,&nbsp;G. Troncone ,&nbsp;A. Di Spiezio Sardo ,&nbsp;M.C. De Angelis","doi":"10.1016/j.jlb.2025.100451","DOIUrl":"10.1016/j.jlb.2025.100451","url":null,"abstract":"<div><h3>Introduction</h3><div>Endometrial cancer (EC) is the sixth most frequent female malignancy worldwide. Atypical endometrial hyperplasia (AEH), also termed endometrial intraepithelial neoplasia (EIN), represents the recognized precursor lesion. While hysteroscopy with biopsy remains the diagnostic gold standard, the lack of non-invasive biomarkers for early detection and follow-up is a major clinical limitation. MicroRNAs (miRNAs), small non-coding RNAs regulating gene expression, have emerged as potential diagnostic and prognostic tools in gynecological oncology.</div></div><div><h3>Objective</h3><div>We aimed to determine the accuracy of the predictive value of a selected panel of miRNAs (miR-504-5p and miR-429) obtained on endometrial samples, in detecting EC and EIN, and to explore their role along the neoplastic continuum.</div></div><div><h3>Methods</h3><div>A prospective observational study was conducted at the University of Naples “Federico II.” Thirty-seven patients were enrolled: EC (n = 15), EIN (n = 15), and controls with normal endometrium (n = 7). All underwent hysteroscopy with grasp biopsy or “Visual D&amp;C.” Formalin-fixed paraffin-embedded samples were processed for RNA extraction, and miRNA expression was analyzed by RT-PCR (Taqman Advanced miRNA Assays).</div></div><div><h3>Results</h3><div>Both miRNAs were successfully amplified in most cases. In EC, miR-504-5p was detected in 93.3 % and miR-429 in 100 % of samples, with mean Ct values of 32.2 and 29.7, respectively. AEH showed intermediate expression (93.3 % and 86.7 % detection rates; mean Ct 28.3 and 29.8). Normal endometrium displayed the highest expression (100 % and 85.7 %; mean Ct 25.5 and 26.8). A progressive downregulation of both miRNAs from normal tissue to AEH and EC was observed.</div></div><div><h3>Conclusion</h3><div>Our preliminary findings suggest that reduced expression of miR-504-5p and miR-429 characterizes the transition from EIN to EC, supporting their potential role as tumor suppressors in this setting. This two-miRNA panel could complement histopathology in distinguishing precursor lesions from carcinoma, addressing a key diagnostic challenge. Larger studies, including minimally invasive liquid biopsy approaches, are warranted to validate their clinical utility.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"11 ","pages":"Article 100451"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Crossing barriers with CSF-based sequencing for leptomeningeal disease in EGFR mutant NSCLC","authors":"Bhuvan Chugh ,&nbsp;Richa Dave ,&nbsp;Aarthi Ramesh ,&nbsp;Ganesh Khutale ,&nbsp;Kanchan Hariramani ,&nbsp;Saloni Andhari ,&nbsp;Alain D'Souza ,&nbsp;Sandhya Iyer ,&nbsp;Madhura Basavalingegowda ,&nbsp;Sumit Halder ,&nbsp;Hrishita Kothavade ,&nbsp;Aravindan Vasudevan ,&nbsp;Atul Bharde ,&nbsp;Jayant Khandare ,&nbsp;Gowhar Shafi","doi":"10.1016/j.jlb.2025.100332","DOIUrl":"10.1016/j.jlb.2025.100332","url":null,"abstract":"<div><div>This case report highlights the critical role of cerebrospinal fluid (CSF)-based sequencing in precision oncology for a 64-year-old female with metastatic <em>Epidermal growth factor receptor</em> (<em>EGFR</em>)-mutant non-small-cell lung cancer (NSCLC) with leptomeningeal metastases spread. Isolating cell-free DNA (cfDNA) and capturing true live single circulating tumor cells (sCTCs) from CSF fluid is extremely challenging due to rapid degradation of DNA and extremely low abundance of sCTCs. In progressive disease, we successfully extracted cfDNA and sCTCs in CSF that revealed actionable mutations such as <em>EGFR</em> Exon 19 deletion and <em>ERBB2</em> amplification. The findings guided personalization of precision therapy, including intrathecal trastuzumab combined with systemic treatments, leading to significant clinical improvement and effective control of leptomeningeal disease.</div><div>CSF profiling opens a new diagnostic avenue in identifying resistance mechanism, when blood analysis showed no actionable information. This case demonstrates the transformative potential of CSF-based liquid biopsies to uncover critical mutations, monitor disease progression, and optimize outcomes for central nervous system metastases. Sequential molecular profiling and CSF analysis were instrumental in effective therapeutic strategies for this complex clinical case.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"10 ","pages":"Article 100332"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chemotherapy response monitoring with DNA methylation-based ctDNA tumor fraction: Evidence from a real-world cohort of patients with advanced common solid malignancies","authors":"Christian D. Rolfo ,&nbsp;Moh'd M. Khushman ,&nbsp;Alessandro Russo ,&nbsp;Roberto Borea ,&nbsp;Bernard Herrman ,&nbsp;Jing Wang ,&nbsp;Jiemin Liao ,&nbsp;Carin R. Espenschied ,&nbsp;Sean Gordon ,&nbsp;Katie Quinn ,&nbsp;Kimberly C. Banks ,&nbsp;Arielle J. Medford","doi":"10.1016/j.jlb.2025.100442","DOIUrl":"10.1016/j.jlb.2025.100442","url":null,"abstract":"<div><h3>Background/objectives</h3><div>Chemotherapy remains standard for many cancers, but challenges remain in evaluating clinical response to therapy. Epigenomic circulating tumor DNA (ctDNA) quantification is an emerging molecular approach to tumor response assessment. Here, we examine a tissue-free, methylation-based assay to demonstrate how changes in circulating tumor fraction (TF) associate with outcomes in a real-world advanced, pan-cancer cohort treated with chemotherapy.</div></div><div><h3>Methods</h3><div>This retrospective study evaluated patients with advanced solid tumors treated with chemotherapy and serial ctDNA testing, both pre- and post-therapy initiation. Serial samples were analyzed with an analytically validated next-generation sequencing (NGS) methylation-based ctDNA assay. The primary outcome measured was real-world time to next treatment (rwTTNT) as a surrogate for progression free survival. Secondary outcomes included real-world overall survival (rwOS) and lead time from TF increase to rwTTNT event.</div></div><div><h3>Results</h3><div>Among 278 eligible patients, decreasing TF was associated with improved rwTTNT (aHR 0.55 [95 % CI 0.39, 0.79] p = 0.001). Patients achieving a ≥98 % decrease at any timepoint had superior outcomes (rwTTNT aHR 0.40 [95 % CI 0.28, 0.56] p &lt; 0.005; rwOS aHR 0.54 [95 % CI 0.38, 0.79] p &lt; 0.005). Patients with continuous TF decrease had longer rwTTNT than those with initial decrease followed by increase (aHR 0.05 [CI 0.004–0.575] p = 0.016). Increasing TF was detected in 64 patients with a median lead time to rwTTNT of 2.27 months.</div></div><div><h3>Conclusions</h3><div>On-treatment changes in methylation-based TF in chemotherapy-treated patients are associated with long-term outcomes. CtDNA monitoring offers an opportunity to rapidly evaluate therapy efficacy, potentially improving clinical decision-making regarding benefit vs toxicity and long-term patient outcomes.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"10 ","pages":"Article 100442"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145466248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"General practitioners’ attitudes towards liquid biopsy as a diagnostic test for advanced lung cancer","authors":"Danyon Lo ,&nbsp;Jenny Wong ,&nbsp;Rawiri Keenan ,&nbsp;James Fingleton ,&nbsp;Annie N.M. Wong","doi":"10.1016/j.jlb.2025.100330","DOIUrl":"10.1016/j.jlb.2025.100330","url":null,"abstract":"<div><h3>Background</h3><div>In New Zealand (NZ), lung cancer disproportionately affects our indigenous Māori population, with both incidence and mortality being three times higher than NZ Europeans. Incidence of endothelial growth factor receptor (<em>EGFR</em>) mutated lung cancer is two to three times higher in Māori, Pacific and Asian people compared to NZ Europeans. Outcomes could potentially be improved if testing was augmented by biomarker testing of circulating tumour deoxyribonucleic acid (ctDNA) at the outset of diagnosis. Testing as a liquid biopsy could be more accessible, faster, and lower cost compared to tissue biopsy.</div><div>We aimed to evaluate NZ General Practitioners' (GPs’) attitudes towards liquid biopsy.</div></div><div><h3>Methods</h3><div>A survey was conducted of NZ GPs and was distributed through online channels between November 2023 to January 2024.</div></div><div><h3>Results</h3><div>Seventy GPs responded and challenges reported with the diagnostic process of lung cancer were: limited GP appointments, poor access to imaging, and limited access to secondary care. 53/58 (91 %) of GPs were unaware of liquid biopsy. 46/58 (79 %) were initially not comfortable with pre-test genetic counselling associated for this. Some GPs highlighted the potential of liquid biopsy to complement existing procedures particularly in rural areas although concerns were expressed regarding culturally appropriate pathways. Provided adequate training and funding for liquid biopsy, 42/58 (72 %) of GPs stated they would be comfortable requesting liquid biopsy and the associated counselling.</div></div><div><h3>Conclusion</h3><div>Most GPs were not familiar with liquid biopsy but 72 % supported these tests to be incorporated into current pathways. Liquid biopsy could potentially reduce diagnostic delays and inequities in lung cancer.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"10 ","pages":"Article 100330"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145363134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}