The Journal of Liquid Biopsy最新文献_第2页

Liquid biopsy for evaluating mutations and chromosomal aberrations in cerebrospinal fluid from patients with primary or metastatic CNS tumors

The Journal of Liquid Biopsy Pub Date : 2024-12-01 DOI: 10.1016/j.jlb.2024.100281

Ahmad Charifa , Sally Agersborg , Arash Mohtashamian , Andrew Ip , Andre Goy , Maher Albitar

{"title":"Liquid biopsy for evaluating mutations and chromosomal aberrations in cerebrospinal fluid from patients with primary or metastatic CNS tumors","authors":"Ahmad Charifa , Sally Agersborg , Arash Mohtashamian , Andrew Ip , Andre Goy , Maher Albitar","doi":"10.1016/j.jlb.2024.100281","DOIUrl":"10.1016/j.jlb.2024.100281","url":null,"abstract":"<div><h3>Background</h3><div>Cytopathology analysis of cerebrospinal fluid (CSF) is limited in detecting tumors in patients with suspected primary or metastatic central nervous system (CNS) malignancy. We investigated the use of CSF liquid biopsy (LBx) to detect neoplastic processes in the CNS.</div></div><div><h3>Methods</h3><div>Cell-free DNA (cfDNA) from the CSF of patients with suspected metastatic (N = 106) or primary CNS (N = 23) tumors was deep sequenced using a 302-gene panel.</div></div><div><h3>Results</h3><div>Four samples (3 %) (3 metastatic and 1 primary) failed sequencing quality control criteria. Metastatic tumor was confirmed in 84 (82 %) of the 103 patients suspected of metastatic tumor. Primary CNS tumor was confirmed in 11 of 22 (50 %) patients suspected of CNS tumor. Chromosomal abnormalities were detected in 55 samples (54 %). Germline mutations were detected in 23 (22 %) patients with metastatic tumors and in 1 (5 %) with a primary CNS tumor. Of the 29 patients with metastatic breast cancers, 2 (7 %) had mutations in ESR1 and 9 (31 %) had mutations in PIK3CA. Of the 21 patients with metastatic lung cancer, 9 (43 %) had EGFR mutations and 5 (24 %) had KRAS mutations. Upon comparing CSF LBx with peripheral blood LBx in 14 patients, 13 (93 %) showed only CHIP and one patient showed CNS primary tumor mutation. Serial samples from 14 patients demonstrate that CSF LBx can be used for monitoring therapy efficacy.</div></div><div><h3>Conclusions</h3><div>LBx using CSF is clinically reliable and provides informative results in a substantial proportion of patients with metastatic CNS tumors and to a lesser degree in patients with primary CNS tumors.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"6 ","pages":"Article 100281"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143138989","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}

引用次数: 0

Global requirements for manufacturing and validation of clinical grade extracellular vesicles

The Journal of Liquid Biopsy Pub Date : 2024-12-01 DOI: 10.1016/j.jlb.2024.100278

Abhimanyu Thakur , Deepika Rai

{"title":"Global requirements for manufacturing and validation of clinical grade extracellular vesicles","authors":"Abhimanyu Thakur , Deepika Rai","doi":"10.1016/j.jlb.2024.100278","DOIUrl":"10.1016/j.jlb.2024.100278","url":null,"abstract":"<div><div>Extracellular vesicles (EVs) are nanovesicles released from different cell types from biofluids such as blood, urine, and cerebrospinal fluid. They vary in size and biomarkers, and their biogenesis pathways allow them to be divided into three major types: exosomes, micro-vesicles, and apoptotic bodies. EVs have been studied in the context of diagnosis and therapeutic intervention of various pathological conditions such as cancer, neurodegenerative diseases, and pulmonary diseases. However, the production of EV-based therapeutics can be affected by the source, heterogeneity, or disease, raising questions about the manufacturing and validation of EVs of clinical grade and their scope regarding good manufacturing practice (GMP) in the industry. To address this, we have discussed the state-of-the-art requirements for EV production that must occur in a GMP-compliant environment with a reliable and traceable source. Additionally, EVs' homogeneity and the therapeutics' purity and stability must be analyzed and validated. Quality control measures must also be established to ensure the safety and efficacy of EVs. In conclusion, these considerations must be weighed carefully when manufacturing and validating EVs of clinical grade to ensure their safety and efficacy for therapeutic use.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"6 ","pages":"Article 100278"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143138991","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}

引用次数: 0

Liquid biopsy in gallbladder carcinoma: Current evidence and future prospective 胆囊癌液体活检：当前证据与未来展望

The Journal of Liquid Biopsy Pub Date : 2024-11-21 DOI: 10.1016/j.jlb.2024.100280

Sridhar Mishra , Swati Kumari , Nuzhat Husain

{"title":"Liquid biopsy in gallbladder carcinoma: Current evidence and future prospective","authors":"Sridhar Mishra , Swati Kumari , Nuzhat Husain","doi":"10.1016/j.jlb.2024.100280","DOIUrl":"10.1016/j.jlb.2024.100280","url":null,"abstract":"<div><div>Although there have been significant advances in the early detection and treatment of gallbladder cancer (GBC), it is still considered a leading cause of morbidity and mortality. Molecular profiling of tumors is generally performed using samples obtained during surgery or biopsy. However, tissue genotyping has its limitations as it only provides a single snapshot and is susceptible to spatial selection bias due to the tumor heterogeneity. Over the past decade, there has been a remarkable transition from invasive diagnostic methods to non-invasive alternatives, including liquid biopsy, for cancer diagnosis and monitoring. Liquid biopsies have ushered in a new era in clinical oncology, enabling convenient tumor sampling, continuous monitoring through repeated analysis, development of personalized treatment regimens, and assessment of therapy resistance. While peripheral blood is the primary medium for these biopsies, other biological fluids, including urine, saliva, and bile, also serve as valuable sources of information. Currently, the focus of blood-based biopsy analyses is on four main sources of biomarkers for cancer detection and stratification: circulating tumor DNA (ctDNA) or circulating free DNA (cfDNA), circulating tumor cells (CTCs), and extracellular vesicle (EVs). There are over 300 clinical trials either ongoing or actively recruiting participants to investigate the diagnostic and prognostic applications of ctDNA/cfDNA in the context of cancer. This review outlines the current standard of care for individuals with GBC, anticipates future treatment developments, and evaluates the potential applications of liquid biopsies in various clinical contexts. The review addresses ctDNA/cfDNA, CTC, and circulating microRNA and highlights their prospective roles in management of GBC.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"6 ","pages":"Article 100280"},"PeriodicalIF":0.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142719751","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}

引用次数: 0

Ultrasound mediated blood-brain barrier opening increases brain tumor biomarkers: A review of preclinical and clinical trials 超声波介导的血脑屏障开放可增加脑肿瘤生物标志物：临床前和临床试验综述

The Journal of Liquid Biopsy Pub Date : 2024-11-17 DOI: 10.1016/j.jlb.2024.100277

Muhammad Izhar , Abhimanyu Thakur , David J. Park , Steven D. Chang

{"title":"Ultrasound mediated blood-brain barrier opening increases brain tumor biomarkers: A review of preclinical and clinical trials","authors":"Muhammad Izhar , Abhimanyu Thakur , David J. Park , Steven D. Chang","doi":"10.1016/j.jlb.2024.100277","DOIUrl":"10.1016/j.jlb.2024.100277","url":null,"abstract":"<div><div>The diagnosis of brain tumors typically relies on magnetic resonance imaging (MRI), computed tomography (CT), and invasive procedures like biopsies or surgical resection for confirmation and genetic profiling. However, these methods have limitations, especially in distinguishing treatment effects like pseudo-progression from actual tumor progression, and repeated biopsies pose risks. Liquid biopsy (LB) offers a non-invasive alternative, detecting tumor-derived biomarkers in blood and cerebrospinal fluid (CSF). Despite its potential, the low concentration of brain tumor biomarkers in blood due to the blood-brain barrier (BBB), limits the clinical utility of LB. MRI-guided focused ultrasound (MRgFUS) combined with microbubbles provides a novel solution by temporarily disrupting the BBB, facilitating the passage of therapeutic agents, and enabling tumor biomarker detection. This technique, termed “sonobiopsy,” enables non-invasive biomarker collection for liquid biopsy, potentially improving brain tumor diagnosis and monitoring<strong>.</strong></div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"6 ","pages":"Article 100277"},"PeriodicalIF":0.0,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142720555","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}

引用次数: 0

Circulating adenoid cystic carcinoma associated MYB transcripts enable rapid and sensitive detection of metastatic disease in blood liquid biopsies 循环性腺样囊性癌相关 MYB 转录物可快速灵敏地检测血液液体活检中的转移性疾病

The Journal of Liquid Biopsy Pub Date : 2024-11-15 DOI: 10.1016/j.jlb.2024.100276

Acadia H.M. Moeyersoms , Kendall W. Knechtel , Andrew J. Rong , Ryan A. Gallo , Michelle Zhang , Harper M. Marsh , Zoukaa B. Sargi , Jason M. Leibowitz , Francisco J. Civantos , Donald T. Weed , Sander R. Dubovy , David T. Tse , Daniel Pelaez

{"title":"Circulating adenoid cystic carcinoma associated MYB transcripts enable rapid and sensitive detection of metastatic disease in blood liquid biopsies","authors":"Acadia H.M. Moeyersoms , Kendall W. Knechtel , Andrew J. Rong , Ryan A. Gallo , Michelle Zhang , Harper M. Marsh , Zoukaa B. Sargi , Jason M. Leibowitz , Francisco J. Civantos , Donald T. Weed , Sander R. Dubovy , David T. Tse , Daniel Pelaez","doi":"10.1016/j.jlb.2024.100276","DOIUrl":"10.1016/j.jlb.2024.100276","url":null,"abstract":"<div><div>Adenoid cystic carcinoma (ACC) is a rare and lethal malignancy that originates in secretory glands of the head and neck. A prominent molecular feature of ACC is the overexpression of the proto-oncogene MYB. ACC has a poor long-term survival due to its high propensity for recurrence and protracted metastasis. Currently, clinical technologies lack the efficiency to distinguish patient prognosis prior to its redevelopment. We hypothesize that metastatic ACC can be detected by monitoring tumor-specific MYB expression in patients’ blood. We developed a quantitative polymerase chain reaction (qPCR) assay for MYB transcripts and screened blood samples from four patient cohorts: no history or evidence of ACC (n = 23), past history of ACC and no evidence of disease (NED) for greater than three years (n = 15), local ACC (n = 6), and metastatic ACC (n = 5). Our assay detected significantly elevated levels of MYB transcripts in the metastatic ACC cohort (p < 0.01). Receiver operating characteristic (ROC) curves comparing metastatic to NED and metastatic to local disease were significant, with p values < 0.0001 and 0.0008, respectively. Single-cell RNA sequencing (scRNA-seq) of blood from metastatic ACC identified a cluster of circulating tumor cells (CTCs) expressing MYB. Here, we report a sensitive, cost-effective, and minimally invasive diagnostic test that leverages tumor-specific signatures to screen for metastatic ACC disease, potentially enhancing detection earlier than the current clinical standard.</div></div>","PeriodicalId":101235,"journal":{"name":"The Journal of Liquid Biopsy","volume":"6 ","pages":"Article 100276"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142706895","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}

引用次数: 0

Cancer-associated macrophage-like cells as a prognostic biomarker in solid tumors 作为实体瘤预后生物标志物的癌症相关巨噬细胞样细胞

The Journal of Liquid Biopsy Pub Date : 2024-11-14 DOI: 10.1016/j.jlb.2024.100275

Anthony Pirrello , Murray Killingsworth , Kevin Spring , John E.J. Rasko , Dannel Yeo

引用次数: 0

ESR1 CTDNA testing in HR+/HER2 metastatic breast cancer: A real-world perspective from a referral laboratory HR+/HER2 转移性乳腺癌的 ESR1 CTDNA 检测：来自转诊实验室的真实视角

The Journal of Liquid Biopsy Pub Date : 2024-11-01 DOI: 10.1016/j.jlb.2024.100229

Dr. Konstantinos Venetis , Dr. Dario Trapani , Mr. Riccardo Adorisio , Dr. Alberto Ranghiero , Dr. Grazia Castellano , Mrs. Virginia Peruzzo , Dr. Davide Vacirca , Giuseppe Curigliano (Prof.) , Nicola Fusco (Prof.) , Elena Guerini Rocco (Prof.)

引用次数: 0

Automated analysis pipeline for HER2 expression profiling in CTCS: Computational potential for advancing personalized therapy for metastatic breast cancer CTCS 中 HER2 表达谱的自动分析管道：推进转移性乳腺癌个性化治疗的计算潜力

The Journal of Liquid Biopsy Pub Date : 2024-11-01 DOI: 10.1016/j.jlb.2024.100264

Ms Sarah Henretta , Dr. Nadia Bayou , Dr. Laura Munoz-Arcos , Elisabetta Molteni , Dr. Mara Serena Serafini , Amanda Strickland , Dr. Caterina Gianni , Dr. Eleonora Nicolo , Dr. Massimo Cristofanilli , Dr. Carolina Reduzzi

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Genomic-epigenomic CTDNA testing in metastatic breast cancer patients with no evidence of disease: Potential clinical utility from real-world data 对无疾病证据的转移性乳腺癌患者进行基因组-表观基因组 CTDNA 检测：来自真实世界数据的潜在临床实用性

The Journal of Liquid Biopsy Pub Date : 2024-11-01 DOI: 10.1016/j.jlb.2024.100216

Dr. Caterina Gianni , Dr. Letizia Pontolillo , Dr. Eleonora Nicolo' , Dr. Laura S. Munoz-Arcos , Dr. Mara Serena Serafini , Lorenzo Gerratana (Prof.) , Eleni Andreopoulou (Prof.) , Ugo De Giorgi (Prof.) , Carolina Reduzzi (Asst.Prof.) , Massimo Cristofanilli (Prof.)

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Liquid biopsy detection of gene Copy Number (CN) losses including existing and emerging clinical targets 通过液体活检检测基因拷贝数 (CN) 缺失，包括现有和新出现的临床目标

The Journal of Liquid Biopsy Pub Date : 2024-11-01 DOI: 10.1016/j.jlb.2024.100221

Dr. Christian Rolfo , Jessica Lee , Dr. Lincoln Pasquina , Dr. Amaya Gasco , Dr. Alexa Schrock , Dr. Natasha Leighl

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