International Journal of Biological Markers最新文献

{"title":"High Kin17 expression is correlated with metastasis and prognosis of esophageal squamous cell carcinoma.","authors":"Zhenkai Chen, Ruiqi Su, Liwen Jiang, Lina Yang, Xiaocong Lin, Qiyuan Huang, Kashif Rafiq Zahid, Yunen Lin, Tao Zeng","doi":"10.1177/03936155251343636","DOIUrl":"10.1177/03936155251343636","url":null,"abstract":"<p><p>BackgroundKin17 is critical in regulating the proliferation and metastasis of tumors in various malignancies. However, the relationship between Kin17 expression, clinicopathologic features, and esophageal squamous cell carcinoma (ESCC) prognosis remains unclear.MethodsThe analysis of Kin17 messenger RNA (mRNA) expression involved the utilization of data from The Cancer Genome Atlas (TCGA) dataset through the platforms the University of ALabama at Birmingham CANcer data analysis portal (UALCAN) and the Gene Expression Omnibus (GEO). To determine the expression levels of Kin17 in tissues, immunohistochemistry was conducted. Using Pearson's chi-square test, the relationship between Kin17 expression and clinicopathological variables was evaluated. Cox proportional hazard models (both univariate and multivariate), receiver operating characteristic (ROC) curves, and Kaplan-Meier survival curves were used to analyze survival.ResultsIn both the TCGA and GEO datasets, the mRNA level of Kin17 was greater in tumor tissues when compared to tumor-adjacent tissues (<i>P</i> < 0.001). Similarly, there was a significant expression of Kin17 (<i>P</i> < 0.0001) in ESCC tissues. Elevated Kin17 expression correlated significantly with increased Ki-67 levels (<i>P</i> < 0.001), advanced pathological tumor node metastasis stage (<i>P</i> = 0.01), and positive lymph node metastasis (<i>P</i> = 0.02). According to univariate and multivariate Cox models, high Kin17 expression was associated with poorer progression-free survival (PFS) (hazard ratio (HR): 1.990, 95% confidence interval (CI): (1.040-3.810)), and Kin17 was an independent prognostic variable for overall survival (OS) (HR: 2.321, 95% CI: (1.056-5.101)). ROC curve showed that the area under the curve for predicting PFS and OS using the combination of Kin17 and K-i67 was 0.7088 and 0.7031, respectively. High Kin17 expression was associated with unfavorable PFS (HR: 2.009, 95% CI: (1.059-3.811)) and OS (HR: 2.997, 95% CI: (1.488-6.040)).ConclusionsKin17 is abundantly expressed in ESCC tissues and is potentially useful for prognostic evaluation and as a target for therapeutic interventions in ESCC.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"96-104"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A three-miRNA panel in serum: Serving as a novel diagnostic method for nasopharyngeal carcinoma.","authors":"Zhenjian Ge, Pengwu Zhang, Yong Xia, Chong Lu, Chen Sun, Zhenyu Wen, Wenkang Chen, Yingqi Li, Shengjie Lin, Yutong Wu, Xutai Li, Huimei Zhou, Wuping Wang, Siwei Chen, Ling Ji, Yongqing Lai","doi":"10.1177/03936155251329041","DOIUrl":"10.1177/03936155251329041","url":null,"abstract":"<p><p>BackgroundNasopharyngeal carcinoma has unique epidemiological characteristics. Screening for this currently lacks a highly efficient, non-invasive, and inexpensive method. Serum microRNA (miRNA), which is stable and commonly present, has the potential to serve as a novel marker for nasopharyngeal carcinoma diagnosis.ObjectivesThis study aims to find a highly efficient, non-invasive, and inexpensive biomarker for nasopharyngeal carcinoma diagnosis.MethodsThis study, involving 52 patients with nasopharyngeal carcinoma and 56 healthy controls, was conducted in two phases to identify miRNAs in the serum suitable for nasopharyngeal carcinoma diagnosis using quantitative reverse transcription polymerase chain reaction. Stepwise logistic regression analysis was then used to identify a miRNA panel with high diagnostic efficiency. Additionally, we used bioinformatic analysis to explore the potential biological functions of the crucial miRNAs.ResultsA three-miRNA panel (miR-148b-3p, miR-10b-5p, and miR-18a-5p) has a high diagnostic value for nasopharyngeal carcinoma (area under the curve = 0.872; 95% confidence interval: 0.793-0.928; sensitivity = 78.57%; specificity = 86.54%). Through bioinformatics analysis we found that CC2D2B, PCDH9, and FOXP1 may be potential target genes of these three miRNAs.ConclusionThis three-miRNA panel (miR-148b-3p, miR-10b-5p, and miR-18a-5p) represents a highly efficient, non-invasive, and inexpensive biomarker for diagnosing nasopharyngeal carcinoma.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"87-95"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preliminary investigation of nicotinamide N-methyltransferase as an HBV-specific biomarker for hepatocellular carcinoma diagnosis.","authors":"Yi Zhang, Huayang Chen, Song You, Xiaoqin Chi, Yongxi Chen, Zhiyong Wu, Jiepeng Zheng, Xin Cheng, Jianming Liu, Jie Li","doi":"10.1177/03936155251330664","DOIUrl":"10.1177/03936155251330664","url":null,"abstract":"<p><p>BackgroundNicotinamide N-methyltransferase (NNMT), a metabolic enzyme in the liver, has been implicated in various biological processes, and its high expression in hepatocellular carcinoma has been linked to tumor metastasis and poor prognosis. However, its potential as a serum biomarker for hepatocellular carcinoma diagnosis remains unexplored.MethodsA total of 172 subjects were included in this study, consisting of 71 hepatocellular carcinoma patients (64 with hepatitis B virus (HBV)-associated hepatocellular carcinoma and 7 with non-HBV-associated hepatocellular carcinoma), as well as 70 healthy controls and 31 HBV-infected individuals. Serum NNMT levels were measured, and clinical-pathological correlations were analyzed. The diagnostic efficacy of serum NNMT for HBV-related hepatocellular carcinoma was evaluated using receiver operating characteristic (ROC) curve analysis.ResultsSerum NNMT levels were significantly elevated in HBV-infected individuals and correlated with poorer prognosis, including reduced overall survival and shorter disease-free survival. Kaplan-Meier analysis revealed that low NNMT expression was associated with longer overall survival (75 vs. 12 months, <i>P</i> < 0.0001) and disease-free survival (21.5 vs. 5 months, <i>P</i> < 0.01). In HBV-related hepatocellular carcinoma patients, NNMT levels correlated with biochemical markers including alfa-fetoprotein, aspartate transaminase, triglycerides, total cholesterol, low-density lipoprotein, apolipoprotein B, TB, and albumin, with decreased albumin, and high-density lipoprotein levels promoting NNMT expression. ROC analysis showed that NNMT outperformed alfa-fetoprotein (area under the curve (AUC) 0.869 vs. 0.775), with a sensitivity of 95.2%, specificity of 87.9%, and a combined AUC of 0.947, demonstrating its superior diagnostic value for HBV-related hepatocellular carcinoma.ConclusionsSerum NNMT is a promising biomarker for predicting the risk of hepatocellular carcinoma in HBV-infected individuals and may serve as an indicator for the prognosis of hepatocellular carcinoma patients.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"124-132"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunogenetic contribution of the <i>fractalkine</i>/<i>CX3CR1</i> axis in oral squamous cell carcinoma.","authors":"Mario Alberto Alarcón-Sánchez, Lilibeth-Stephania Escoto-Vasquez, Julieta Sarai Becerra-Ruiz, Rolando Rivera-Solano, Artak Heboyan","doi":"10.1177/03936155251345080","DOIUrl":"10.1177/03936155251345080","url":null,"abstract":"<p><p>Oral squamous cell carcinoma (OSCC) is a malignant neoplasm with high mortality and recurrence. Its etiology is multifactorial and involves environmental factors such as smoking, alcohol, and human papilloma virus infection, as well as genetic factors such as single nucleotide polymorphisms. The <i>fractalkine</i>/<i>CX3CR1</i> axis is key in the regulation of cell apoptosis, proliferation, migration, and invasion, which are fundamental processes in cancer development. The <i>CX3CL1</i> gene, which encodes fractalkine, presents variants such as rs223815 (G > C) and rs682082 (G > A), associated with resistance to chemotherapy in ovarian cancer. In OSCC, its increased expression correlates with shorter survival. On the other hand, the <i>CX3CR1</i> gene, which encodes its receptor, has variants such as T280M and V249I, which are associated with reduced cell adhesion and deficiencies in chemotaxis. These variants have been implicated in various diseases and in reduced immune response against cancer. Although the <i>fractalkine</i>/<i>CX3CR1</i> axis may have protective or tumorigenic effects depending on the type of cancer, in OSCC its activation seems to favor tumor invasion and metastasis. Future studies could determine its impact on the development and treatment of this disease.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"83-86"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LncRNA PGM5-AS1 regulates cell functions and acts as a potential biomarker to predict prognosis in breast cancer.","authors":"Lei Xiang, Yueqing Yin, Linna Kong, Pengfei Li, Huihui Zhang, Wenqing Bian, Zhaoxu Wu","doi":"10.1177/03936155251325846","DOIUrl":"10.1177/03936155251325846","url":null,"abstract":"<p><p>BackgroundThe aggressive proliferation and spread of breast cancer contributes to a dismal clinical outcome. The present study was to investigate the function and underlying mechanism of the long non-coding RNA (lncRNA) PGM5-AS1 in the modulation of breast cancer.MethodsQuantitative real time-polymerase chain reaction was utilized to assess the levels of PGM5-AS1 and miR-18a-3p. The prognostic significance was evaluated through Kaplan-Meier survival analysis and multivariate Cox regression analysis. Cell viability in breast cancer cells was measured utilizing a cell counting kit-8 kit. Cell migration and invasion were investigated using a transwell assay. The targeted regulatory interaction between PGM5-AS1, miR-18a-3p, and TGFBR3 was validated via dual luciferase reporter gene assay.ResultLevels of PGM5-AS1 were low in both breast tissue and cancer cell lines. This reduction in expression was linked to various clinical characteristics and a reduced overall survival rate in breast cancer patients. Upregulation of PGM5-AS1 expression noticeably inhibited proliferation, migration, and invasion in breast cancer cells. PGM5-AS1 regulated breast cancer development by controlling the miR-18a-3p/TGFBR3 axis.ConclusionThe lncRNA PGM5-AS1/miR-18a-3p/TGFBR3 axis is considered a potential genetic target for the development of breast cancer treatments.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"114-123"},"PeriodicalIF":2.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LRP1B mutation is associated with lymph node metastasis in endometrial carcinoma: A clinical next-generation sequencing study.","authors":"Yunfeng Zheng, Fan Yang, Jie Wu","doi":"10.1177/03936155241304433","DOIUrl":"10.1177/03936155241304433","url":null,"abstract":"<p><p>BackgroundThis study aims to investigate the mutation status and protein expression of low-density lipoprotein receptor-related protein 1B (LRP1B) in endometrial cancer, and analyze its association with lymph node metastasis (LNM) in endometrial cancer.MethodsTargeted next-generation sequencing (NGS) was conducted on both tumor tissues and paired blood DNA obtained from 94 endometrial cancer patients, followed by comprehensive analysis. Additionally, immunohistochemistry (IHC) was used to explore the correlation between LRP1B protein expression levels, its gene mutation status, and LNM.Results<i>LRP1B</i> mutation was observed in 19 patients (20.2%). Our results revealed that <i>LRP1B</i> mutation frequencies were significantly different between endometrial cancer with or without LNM (<i>P </i>= 0.038). Multivariate analysis indicated that <i>LRP1B</i> mutation was a favorable predictor (odds ratio 0.09; 95% confidence interval 0.01-0.95; <i>P </i>= 0.045) for LNM in endometrial cancer. Further analysis revealed that combination of <i>LRP1B</i> mutation with clinical variants (LVSI and histological subtype) yielded a higher area under the curve value of 0.871) and patients harboring <i>LRP1B</i> mutated-type were less likely to develop LNM. On integrated analysis, the concordance between <i>LRP1B</i> NGS and LRP1B IHC was 73.3%.ConclusionsThis study utilizes targeted NGS to uncover the relationship between <i>LRP1B</i> mutation and LNM status, contributing to the development of primary prevention and proactive treatment strategies.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"3-11"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment of liquid-liquid phase separation-related prognostic model in lung adenocarcinoma and systematic analysis of its clinical significance.","authors":"Yan Chen, Cheng Huang, Wei Wei","doi":"10.1177/03936155241310887","DOIUrl":"10.1177/03936155241310887","url":null,"abstract":"<p><p>PurposeTo detect the prognostic importance of liquid-liquid phase separation (LLPS) in lung adenocarcinoma.MethodsThe gene expression files, copy number variation data, and clinical data were downloaded from The Cancer Genome Atlas cohort. LLPS-related genes were acquired from the DrLLPS website. The prognostic model based on LLPS was constructed by the Cox regression and LASSO regression analyses after the identification of LLPS-related differentially expressed genes (DEGs). Gene Ontology functional and Kyoto Encyclopedia of Genes and Genomes enrichment analysis were performed. The LLPS-related prognostic risk score was validated by GSE31210 and GSE72094. The overall survival of lung adenocarcinoma patients was predicted by plotting a nomogram. The biological features of the high-risk lung adenocarcinoma were evaluated by the CIBERSORT, ESTIMATE, Gene Set Variation Analysis, and Genomics of Drug Sensitivity in Cancer. Reverse transcription-quantitative polymerase chain reaction detected hub gene expression.ResultsA total of 91 DEGs were screened out in LLPS, among which 9 genes were discovered as prognostic biomarkers of lung adenocarcinoma. <i>GRIA1</i>, <i>CRTAC1</i>, <i>MAGEA4</i>, and <i>MAPK4</i> were identified as hub genes by the LASSO Cox regression analysis. High-risk and low-risk groups were divided according to the risk index, with the high-risk group displaying a markedly worse outcome. CRTAC1 expression was significantly decreased, MAGEA4 and MAPK4 expressions were increased, while GRIA1 expression was altered in lung adenocarcinoma cells. Tumor microenvironment, signaling pathway enrichment, and drug sensitivity significantly differed between different risk groups.ConclusionsThis work proposed a prognostic tool based on the LLPS-related gene signature to offer prospective and effective biomarkers for lung adenocarcinoma prognosis.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"12-23"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advanced glycation end products and breast cancer risk in a sample of the ORDET cohort.","authors":"Claudia Agnoli, Federico Perlino, Giulia Guerra, Martina Quartiroli, Claudia Vener, Pierluigi Mauri, Antonella de Palma, Elisabetta Venturelli, Sabina Sieri","doi":"10.1177/03936155241309927","DOIUrl":"10.1177/03936155241309927","url":null,"abstract":"<p><p>IntroductionBreast cancer is the most common cancer among women, and metabolic syndrome (MetS) is a risk factor for breast cancer, especially postmenopausal breast cancer. We evaluated the role of the advanced glycated end products (AGEs) levels contributing to the association between MetS and breast cancer risk.MethodsPlasma AGEs were measured in a case-control study nested within the Hormones and Diet in the Etiology of Breast Tumors (ORDET) cohort, including 40 incident postmenopausal breast cancer cases (20 with MetS and 20 without) and 40 postmenopausal controls (20 with MetS and 20 without). The association between AGEs and breast cancer was analyzed using Bayesian logistic regression models. An informative prior for the exposure coefficient, modeled as a normal distribution, centered on the natural logarithm of an odds ratio ((OR)=1.635) derived from prior evidence, was employed alongside weakly informative priors (WIPs). Bayesian linear regression with WIPs was used to examine the association between MetS and AGEs. Estimates were reported with SDs and 90% and 95% credible intervals (CI).ResultsAGEs were associated with higher breast cancer risk both with the informative prior (OR = 1.745, SD):0.362; 90% CI:1.218-2.390; 95% CI:1.137-2.548) and the WIP (OR = 1.861, SD = 0.661; 90% CI:1.026-3.082; 95% CI:0.924-3.528) specification. Although the difference in plasma AGEs in women with and without MetS was not significant, we found a suggestion of higher levels in women with MetS (mean difference in standardized AGEs between individuals with and without MetS = 0.155, SD = 0.245; 90% CI:-0.246 to 0.553; 95% CI:-0.322 to 0.625).ConclusionsThese data, although from a small sample of women, support a role of endogenous AGEs in the pathological pathways underlying the association between MetS and breast cancer development.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"75-79"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between serum uric acid and the risk of breast cancer: A meta-analysis of observational studies.","authors":"Liping Yang, Ziyun Yu, Jin Zhu, Longbo He, Lieliang Wang, Qingfeng Luo","doi":"10.1177/03936155241313469","DOIUrl":"10.1177/03936155241313469","url":null,"abstract":"<p><p>BackgroundThe relationship between serum uric acid and breast cancer remains uncertain. This meta-analysis aimed to elucidate the dose-response association between elevated serum uric acid levels and breast cancer risk.MethodsWe systematically searched PubMed, Embase, and Web of Science for observational studies evaluating serum uric acid and breast cancer risk in adult women. Risk ratios (RRs) with 95% confidence intervals (CIs) were calculated using a random-effects model.ResultsTen studies were included. High serum uric acid was associated with an increased breast cancer risk (RR: 1.34; 95% CI: 1.03-1.73; <i>P</i> = 0.03; I² = 78%). Meta-regression analysis revealed that the cutoff for high serum uric acid positively correlated with breast cancer risk (coefficient = 0.24; <i>P</i> < 0.001), explaining heterogeneity (residual I² = 0%). Subgroup analysis demonstrated a high serum uric acid was significantly related to an increased breast cancer risk in studies with a cutoff value ≥ 5.4 mg/dL (RR: 1.95; <i>P</i> < 0.001), but not in those with a cutoff value < 5.4 mg/dL (RR: 0.97; <i>P</i> = 0.44). The dose-response meta-analysis revealed a U-shaped association between serum uric acid levels and the risk of breast cancer (<i>P</i> for nonlinearity = 0.013). The risk of breast cancer fell until around 4.5 mg/dL of serum uric acid, and increased afterward.ConclusionSerum uric acid may be nonlinearly associated with the risk of breast cancer (U-shaped). The risk of breast cancer increases with serum uric acid above 4.5 mg/dL, and a higher association between serum uric acid and the increased risk of breast cancer could be observed in studies with cutoff of serum uric acid  > 5.4 mg/dL.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"35-45"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular residual disease assessment based on tumor-informed assay predict disease progression and postoperative recurrence of hepatobiliary cancer: A preliminary study.","authors":"Xiaobing Zhang, Huiguo Shan, Hongyu Pan, Qian Zhong, Qiang Fang, Yun Xu, Yun Liu, Shuping Qu","doi":"10.1177/03936155251315500","DOIUrl":"10.1177/03936155251315500","url":null,"abstract":"<p><p>BackgroundHepatobiliary cancers present a heterogeneous group of diseases, and molecular residual disease (MRD) evaluation based on circulating tumor DNA (ctDNA) is anticipated to offer greater sensitivity in monitoring disease progression than glycoprotein-based tumor markers such as alpha-fetoprotein or carbohydrate antigen 19-9 (CA199).MethodsThe panels for MRD surveillance were customized for each patient based on their specific genetic mutation characteristics. The changes in ctDNA mean variant allele frequencies (mVAF) and single nucleotide variants (SNVs) were analyzed from baseline to post-operative and between post-operative measurements.ResultsA unique tumor-informed whole-exome sequencing (WES) assay revealed significant variations in gene mutations between individuals. Among 63 cases, a total of 1952 SNVs were detected in tumor tissue from 63 patients using WES; only 6 loci (0.3%) were shared by at least 2 patients, indicating that over 95% of the 20-40 loci screened were unique to individual patients . Only 17 gene alterations were common to at least 2 patients, suggesting that alterations vary widely between individuals. The mVAF and the number of SNVs in ctDNA at baseline was dramatically higher than in first post-operative MRD (MRD1). The mVAF clearance was observed in three patients, whose ctDNA was positive at MRD1 but subsequently became negative at the second post-operative MRD (MRD2). Patients exhibiting vascular invasion demonstrated a significant increase in mVAF levels and SNV numbers. Furthermore, we revealed that mVAF levels were significantly associated with clinicopathologic characteristics, including gender, age, tumor subtype, stage, metastasis, vascular invasion, hepatitis B, liver cirrhosis, and tumor differentiation. Importantly, we have shown that the detection of an MRD-guided medication regimen modification is crucial to achieve clinical complete remission.ConclusionsThis study provided data supporting the use of a more reliable assay for MRD analysis in hepatobiliary cancers based on a tumor-informed assay. Dynamic monitoring of post-operative MRD is important for assessing disease progression, risk of recurrence, and response to treatment.</p>","PeriodicalId":50334,"journal":{"name":"International Journal of Biological Markers","volume":" ","pages":"55-66"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}