The Journal of Liquid Biopsy最新文献

{"title":"Cancer in a Drop: Liquid biopsy insights from AACR 2026","authors":"Pasquale Pisapia, Oriol Mirallas, Erick F. Saldanha, Roberto Borea","doi":"10.1016/j.jlb.2026.100488","DOIUrl":"10.1016/j.jlb.2026.100488","url":null,"abstract":"","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"13 ","pages":"Article 100488"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148951636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “The incremental value of liquid biopsy in the initial evaluation of patients with metastatic non-small cell lung cancer undergoing tissue-based molecular testing” [J. Liq. Biopsy 12 (2026) 100461]","authors":"Benjamin A. Bleiberg , Dylan G. Scholes , Lauren Reed-Guy , Devaki Dravid , Lova L. Sun , Aditi P. Singh , Roger B. Cohen , Corey J. Langer , Melina E. Marmarelis , Charu Aggarwal","doi":"10.1016/j.jlb.2026.100472","DOIUrl":"10.1016/j.jlb.2026.100472","url":null,"abstract":"","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"12 ","pages":"Article 100472"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148348150","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":"Cancer in a drop: Liquid biopsy highlights from the San Antonio Breast Cancer Symposium (SABCS) 2025","authors":"Eleonora Nicolò, Konstantinos Venetis, Enes Erul, Pasquale Pisapia, Letizia Pontolillo, Carolina Reduzzi","doi":"10.1016/j.jlb.2026.100463","DOIUrl":"10.1016/j.jlb.2026.100463","url":null,"abstract":"","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"12 ","pages":"Article 100463"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13309970/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148348184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breaking news from ESMO 2025: liquid biopsy novelties in gastrointestinal cancer","authors":"Serena Pillozzi ,&nbsp;Giulia Petroni ,&nbsp;Daniele Lavacchi ,&nbsp;Daniele Rossini ,&nbsp;Lorenzo Antonuzzo","doi":"10.1016/j.jlb.2026.100466","DOIUrl":"10.1016/j.jlb.2026.100466","url":null,"abstract":"<div><div>Liquid biopsy (LB) has emerged as a minimally invasive approach to characterize tumor biology and support treatment decision-making across gastrointestinal (GI) malignancies. Advances in circulating biomarkers have expanded its potential clinical applications. While colorectal cancer appears closest to clinical implementation, with ctDNA increasingly integrated into adjuvant and metastatic decision-making, applications in other GI tumors remain largely exploratory. Emerging approaches, including cfDNA methylation profiling, multi-omic assays, and circulating protein or metabolite analyses, have shown promising early signals but require prospective validation. This review summarizes key LB findings presented at ESMO 2025, highlighting translational relevance, current limitations, and future directions for clinical integration.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"12 ","pages":"Article 100466"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148322943","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":"Development of a LiDia-SEQ™ platform compatible breast cancer panel and testing with metastatic breast cancer patient samples","authors":"Mohammadali Yavari Ramsheh ,&nbsp;Raquel L. Fraccari ,&nbsp;Rossitza Christova ,&nbsp;Jarrett Killpack ,&nbsp;Jean-Rene Acquah ,&nbsp;Georgios Nteliopoulos ,&nbsp;Evie Wren ,&nbsp;Farah Rehman ,&nbsp;Karen Page ,&nbsp;Jacqueline A. Shaw ,&nbsp;Atreyee Saha ,&nbsp;Ryan Wong ,&nbsp;Subhas Pradhan ,&nbsp;Peter Novotny ,&nbsp;Marie Peras ,&nbsp;Beth Arnold ,&nbsp;Michele Wisniewski ,&nbsp;Hrishikesh Joshi ,&nbsp;R Charles Coombes ,&nbsp;Samuel Reed","doi":"10.1016/j.jlb.2026.100474","DOIUrl":"10.1016/j.jlb.2026.100474","url":null,"abstract":"<div><h3>Background</h3><div>Plasma circulating tumour DNA (ctDNA) analysed using next generation sequencing (NGS) reflects the evolving tumour molecular landscape. However, barriers to routine adoption of NGS ctDNA analysis in clinical settings to detect breast cancer recurrence and therapy selection and monitoring include high costs, the need for highly trained personnel to perform complex workflows and specialised laboratories. DNAe is addressing this with its sample-to-result NGS-based LiDia-SEQ™ platform. This benchtop platform is simple to operate, rapid, fully automated and likely cost-effective.</div></div><div><h3>Materials and methods</h3><div>A clinically relevant panel (DNAe panel) covering 127-point mutations on three key genes – <em>ESR1, PIK3CA</em> and <em>TP53</em> was designed and optimised with commercially available reference material. Once sufficiently optimised, the panel was validated using 32 clinical samples from metastatic breast cancer patients in a side-by-side comparison with the Oncomine™ Breast cfDNA Assay. Results from the Oncomine assay were analysed with the Oncomine standard pipeline while results from the DNAe panel were analysed using DNAe's custom bioinformatics pipeline.</div></div><div><h3>Results</h3><div>Out of the 32 clinical samples tested with the two panels, 12 samples had no mutations, and 20 samples contained mutations. Fifteen samples had mutations detected by both panels and five had a single mutation detected by one or the other panel.</div></div><div><h3>Conclusion</h3><div>Using clinical samples, we show that the DNAe panel with analysis using DNAe's pipeline detects mutations comparably to the commercial Oncomine-Assay. This paves the way for development of the DNAe panel into a test for the LiDia-SEQ platform.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"12 ","pages":"Article 100474"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148230632","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":"Cancer in a Drop: Liquid biopsy insights from ESMO 2025","authors":"Shivahamy Maheswaran ,&nbsp;Canio Martinelli ,&nbsp;Diego de Miguel Perez ,&nbsp;Erick Figueiredo Saldanha ,&nbsp;Angelo Dipasquale ,&nbsp;Konstantinos Venetis ,&nbsp;Nadia Ghazali ,&nbsp;Pasquale Pisapia ,&nbsp;Carolina Reduzzi ,&nbsp;Roberto Borea","doi":"10.1016/j.jlb.2026.100469","DOIUrl":"10.1016/j.jlb.2026.100469","url":null,"abstract":"","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"12 ","pages":"Article 100469"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148348127","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":"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}