Molecular Diagnosis & Therapy分子诊断与治疗
Molecular Diagnosis & Therapy(英文缩写 MOL DIAGN THER),ISSN 1177-1062,eISSN 1179-2000,中文译名:分子诊断与治疗 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-11-01 至 2026-10-31，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 4.476 | Q2 |
| 2022 | 4.000 | Q2 |
| 2023 | 4.100 | Q1 |
| 2024 | 4.400 | Q1 |
| 2025 | 5.800 | Q1 |
Molecular Diagnosis & Therapy 最新收录文献
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1. Gadoquatrane: First Approval.
PMID:日期:2026-09-24Gadoquatrane (AMBELVIST) is a paramagnetic, tetrameric, next-generation, high-relaxivity, low-dose macrocyclic gadolinium-based contrast agent (GBCA) developed by Bayer for use with magnetic resonance imaging (MRI). It received its first global approval for contrast enhancement in MRI of the brain and spinal cord, as well as the other parts of the body (trunk and extremities) in March 2026 in Japan. Subsequently, it was approved for use with MRI to detect and visualize lesions with abnormal vascularity in the CNS (brain, spine, and associated tissues) and the body (head and neck, thorax, abdomen, pelvis, and musculoskeletal system) in June 2026 in the USA. It has also been approved in adults and children of all ages including neonates for contrast enhancement in MRI to detect and visualise known or suspected pathology in the CNS (brain, spine, and associated tissues) and the body (head and neck, thorax including breast, abdomen, pelvis, and extremities) in July 2026 in Canada. Gadoquatrane has been submitted for regulatory review in the EU and China. This article summarizes the milestones in the development of gadoquatrane leading to its approval.
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2. Population Reference Data in the Molecular Diagnosis of Pathogenic CAPN3 Variants: Contextual Evidence and Interpretive Limits.
2. 致病性CAPN3变异分子诊断中的群体参考数据：背景证据与解释局限性PMID:日期:2026-09-24Pathogenic variants in CAPN3 cause calpainopathy, but the diagnostic use of population-scale sequence data remains challenging, because allele frequency, inheritance assumptions, and variant classification do not directly predict clinical disease expression. This study evaluated how population reference data can inform interpretation of pathogenic CAPN3 variants in a molecular diagnostic context. We analyzed CAPN3 variants in gnomAD v4.1.0, applied ClinVar-supported American College of Medical Genetics and Genomics (ACMG)/ Association for Molecular Pathology (AMP) categorization to identify pathogenic and likely pathogenic variants, mapped classified variants across annotated protein domains, and used cumulative allele frequency to contextualize expected disease burden under recessive and dominant inheritance models. A total of 5185 CAPN3 variants were identified, of which, 399 were classified as pathogenic or likely pathogenic. These variants were distributed broadly across the gene and protein, and included missense, nonsense, and frameshift changes, supporting a heterogeneous diagnostic landscape rather than a single recurrent hotspot. Using a cumulative pathogenic/likely pathogenic allele frequency of 0.0059, the modeled disease burden was approximately 35 per 1,000,000 under an autosomal recessive framework and 17.5 per 1000 under a dominant framework. The recessive estimate is more consistent with current clinical understanding of calpainopathy, whereas the dominant estimate likely overstates manifest disease, because penetrance, phase, and phenotype are not captured by aggregate reference-dataset variation. Population reference data can therefore strengthen molecular diagnostic interpretation of rare disease, but only when integrated with inheritance-aware, phenotype-informed clinical assessment.
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3. Comparison of Maxwell Kit-Based and NaOH-Based DNA Extraction Incorporated copro-DNA-SjTR1-qPCR Systems: Insights from Detecting Low-Intensity Schistosoma Japonicum Infections.
PMID:日期:2026-09-24Schistosomiasis remains a significant public health issue globally. This study aimed to compare the performance of two molecular diagnostic systems for the detection of low-intensity Schistosoma japonicum infections. A Maxwell kit-based copro-DNA-SjTR1-qPCR workflow (SjTR1-qPCR-S1) and a NaOH-based copro-DNA-SjTR1-qPCR workflow (SjTR1-qPCR-S2) were compared as integrated systems using faecal samples (n = 554) collected from an S. japonicum-endemic area in Leyte Province, the Philippines. The duplicated Kato-Katz (KK) was performed on three stool samples collected from different days for each participant. The diagnostic performance of KK and the SjTR1-qPCR systems were comprehensively compared with a composite reference where a participant was classified as positive if the KK was positive or any qPCR assay was positive. The KK, SjTR1-qPCR-S1 and SjTR1-qPCR-S2 recorded positivity rates of 25.1% (139/554), 25.5% (141/554) and 29.8% (165/554), respectively. The overall S. japonicum positivity rate was 39.2% (217/554) as determined from the composite reference. Both SjTR1-qPCR systems exhibited excellent sensitivity in individuals with moderate-heavy (eggs per gram ≥ 100) and light (eggs per gram 10-99) infection intensity, with reduced sensitivity observed only in individuals with extremely low egg burden (eggs per gram 1-9). Globally, SjTR1-qPCR-S2 demonstrated significantly higher sensitivity (76.0%) compared with the KK (64.1%) and SjTR1-qPCR-S1 (65.0%) [p < 0.0161 and p = 0.0021, respectively, χ]. For samples positive in both SjTR1-qPCR systems (n = 125), SjTR1-qPCR-S1 showed a significantly higher median Ct value than SjTR1-qPCR-S2 (p < 0.0001, Wilcoxon signed-rank test). Both SjTR1-qPCR systems showed a significant negative correlation between Ct values and faecal egg counts (ρ = - 0.5947 for SjTR1-qPCR-S1, and ρ = - 0.4844 for SjTR1-qPCR-S2, both p < 0.0001). Moderate agreement was observed between both SjTR1-qPCR systems and the KK (κ = 0.560 and κ = 0.512, respectively). However, substantial agreement was found between SjTR1-qPCR-S1 and SjTR1-qPCR-S2 (κ = 0.748). The combined qPCR systems showed a sensitivity of 83.4%. SjTR1-qPCR-S2 is cost effective and less reliant on specialised equipment compared with SjTR1-qPCR-S1. With further optimisation, the SjTR1-qPCR-S2 system can be a powerful and game-changing option for integration into the current surveillance network to support the eradication of schistosomiasis japonica.
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4. Orca-T: First Approval.
PMID:日期:2026-09-17Allogeneic regulatory T cell immunotherapy with haematopoietic stem and progenitor cells (HSPC) and T cells-vldq, hereafter referred to as Orca-T (TREGZI), has been developed by Orca Bio under license from Stanford University for the prevention of chronic graft-versus-host disease (cGVHD). On 30 June 2026, Orca-T received its first approval in the USA for use in matched donor haematopoietic stem cell transplantation (HSCT) with myeloablative preparative regimen, for haematopoietic and immunologic reconstitution and to improve cGVHD-free survival, in the treatment of adults with haematological malignancies. This article summarizes the milestones in the development of Orca-T leading to this first approval for the prevention of cGVHD.
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5. Rapid Ex Vivo Visualization of Laryngeal Tumors Using a Sprayable pH-Activatable Fluorophore.
5. 使用可喷雾pH激活荧光团对喉部肿瘤进行快速离体可视化。PMID:日期:2026-09-11Achieving clear resection margins (> 5 mm) is critical during laryngeal and hypopharyngeal tumor resection, as positive margins are associated with reduced disease-specific survival. Near-infrared (NIR) fluorescence imaging has emerged as a valuable tool for intraoperative margin assessment by enabling real-time visualization of residual tumor tissue. However, current fluorescent contrast agents rely on intravenous administration, often requiring dosing hours to days before surgery. Also, targeting tumor-specific biomarkers with heterogeneous expression limits applicability. To address these limitations, we evaluated the feasibility of a topically applied pH-activatable fluorophore (PH10), which selectively fluoresces under acidic conditions. This ex vivo proof-of-concept study investigates whether topical PH10 can visualize laryngeal and hypopharyngeal tumors. Freshly resected laryngeal and hypopharyngeal squamous cell carcinoma (SCC) specimens were obtained from ten patients and topically sprayed with PH10 immediately after surgery. Following a 2-min incubation period, NIR fluorescence images were acquired before and after three sequential saline washes. Fluorescence intensity was quantified as the tumor-to-background ratio (TBR); tumor localization was confirmed on histopathology. Laryngeal tumors demonstrated tumor-specific fluorescence upon PH10 application, with significantly higher signal intensity in tumor tissue compared to adjacent normal mucosa (P < 0.05). The median TBR after the first wash was 2.3 (interquartile range 1.7-3.0), exceeding the clinically relevant threshold of 1.5 in seven of seven laryngeal SCC cases; however, this threshold was not reached in either of the two hypopharyngeal carcinoma cases included. This proof-of-concept study suggests that PH10, a sprayable pH-activatable fluorophore, can enable rapid and high-contrast visualization of laryngeal tumors, although this was not observed in the small number of hypopharyngeal cases evaluated. Given its topical application and rapid activation, PH10 may hold promise for intraoperative margin assessment, yet these preliminary findings, based on a small and heterogeneous sample, require validation in larger cohorts, including direct correlation with deep resection margins, before clinical utility can be established.
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6. Amyloid-β PET Radioligands in Alzheimer's Disease: From Plaque Detection to Biomarker-Guided Patient Stratification and Therapeutic Monitoring.
PMID:日期:2026-09-10Amyloid-β (Aβ) positron emission tomography allows direct in vivo visualization of insoluble fibrillar Aβ deposition and has been used to detect Alzheimer's disease pathology across the clinical continuum, from preclinical stages to overt dementia. Aβ tracers progressed from the prototypical [C]Pittsburgh Compound-B ([C]PiB), which is limited by [C] half-life, to [F]-labeled agents, including [F]Florbetapir, [F]Florbetaben, and [F]Flutemetamol, which allowed centralized production and wide clinical use, with [F]NAV4694 currently in development. In this narrative review, we sought to examine the principal Aβ positron emission tomography radioligands and their methodological framework, including visual reads, the standardized uptake value ratio, and the Centiloid scale, which harmonized quantitative output across tracers, scanners, and protocols and may enable cross-site comparison in multicenter studies and disease-modifying trials. The regulatory approval of lecanemab and donanemab has recently expanded the clinical use of Aβ positron emission tomography. Beyond diagnostic confirmation, the modality can currently confirm eligibility for anti-Aβ therapy, enrich trial populations, monitor target engagement through serial Centiloid measurements, and inform treatment discontinuation at predefined clearance thresholds. However, significant limitations remain, including the imperfect correlation between a high Aβ plaque burden and clinical cognitive decline that constrains its standalone diagnostic utility, tracer-specific variability, restricted accessibility, and the inability of fibril-targeted tracers to image the soluble oligomeric species most directly engaged by anti-Aβ antibodies. Probes for non-fibrillar species and computational tools for assisted interpretation are likely to shape the field in the near future.
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7. Anbalcabtagene Autoleucel: First Approval.
PMID:日期:2026-09-07Anbalcabtagene autoleucel (RIMQARTO) is a CAR T therapy that includes CAR T cells with dual PD-1 and TIGIT downregulation to mitigate T cell exhaustion. It is being developed by Curocell Inc. for the treatment of diffuse large B-cell lymphoma, acute lymphoblastic leukaemia and autoimmune diseases, which received its first approval in April 2026 in South Korea. This article summarizes the milestones in the development of anbalcabtagene autoleucel leading to this first approval for the treatment of relapsed or refractory diffuse large B-cell lymphoma and primary mediastinal large B-cell lymphoma in adults following ≥ 2 lines of systemic therapy.
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8. Integrative Omics of Eosinophils in Asthma and COPD: Deciphering Molecular Signatures for Targeted Therapy.
PMID:日期:2026-08-22Eosinophils are central effector and regulatory cells in asthma and eosinophilic respiratory disease, and a clinically relevant subset in a proportion of patients with chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap. While eosinophil counts are established biomarkers to guide corticosteroid and biologic therapy, they do not capture the molecular heterogeneity of eosinophil activation across these conditions. Advances in integrative omics now permit comprehensive profiling of eosinophils at the transcriptomic, proteomic, and lipidomic levels. In this narrative review we summarize eosinophil-focused single-omics and multi-omics studies in asthma and COPD, with an emphasis on severe eosinophilic asthma and eosinophilic COPD. Multi-omics analysis of blood eosinophils in severe asthma has revealed IL-5-dominated pathways that coexist with IL-4 and microbe-responsive programs. In contrast, eosinophils in asthma-COPD overlap and eosinophilic COPD exhibit prominent interferon-γ, tumor necrosis factor-α, and IL-33 signatures. Mechanistic studies further demonstrate that IL-4/IL-13 enhances eosinophil responsiveness to IL-33 and that IL-33 induces extracellular trap formation (ETosis). We discuss how these disease- and context-specific molecular programs may refine biomarker interpretation and inform the rational selection of biologics targeting IL-5/IL-5R, IL-4Rα, TSLP, and IL-33/ST2 in asthma and COPD.
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9. Circulating MicroRNAs as Diagnostic and Prognostic Biomarkers for Neuroblastoma: A Systematic Review and Exploratory Re-analysis.
PMID:日期:2026-08-18Neuroblastoma is a leading cause of pediatric cancer deaths. Accurate and early risk stratification is crucial; however, current approaches rely on invasive biopsies. MicroRNAs have shown promise as non-invasive biomarkers. PubMed and EMBASE were systematically searched for studies evaluating circulating microRNAs in patients with neuroblastoma until April 2025. Eligible studies were included in a narrative synthesis. If raw expression data were available, a standardized re-analysis was performed to assess diagnostic and prognostic performance using differential expression, receiver operating characteristic (ROC) curve, and Cox regression analyses. Nine studies comprising 385 patients were included. Narrative synthesis identified four microRNAs consistently associated with high-risk disease: miR-375, miR-124-3p, miR-218-5p, and miR-490-5p. In our re-analysis, the findings were largely driven by a single cohort of 185 patients, with limited contributions from smaller studies, and should therefore be interpreted as exploratory. We identified nine microRNAs that were associated with poor prognosis. MiR-9-3p demonstrated the most promising performance for identifying high-risk disease (sensitivity = 0.95; specificity = 0.89) and the strongest association with poor overall survival (hazard ratio [HR] = 14.80). In multivariable analyses, miR-9-3p remained an independent predictor of poor survival (HR = 5.48) after controlling for MYCN amplification (HR = 2.08), metastatic disease (HR = 1.62), and age ≥ 18 months at diagnosis (HR = 2.30). While miR-9-3p may serve as a promising candidate biomarker for high-risk disease, there are several limitations to this study. Prospective multicenter validation is required before clinical implementation.
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10. Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.
PMID:日期:2026-08-13Molecular profiling is increasingly required for treatment selection in advanced biliary tract cancer, yet tumor tissue is often insufficient and plasma circulating tumor DNA has limited yield. Because bile directly contacts the biliary epithelium and is obtainable during routine biliary interventions, bile cell-free DNA (cfDNA) may provide a tumor-proximal molecular profiling source. We systematically reviewed and quantitatively synthesized bile cfDNA detection and profiling in biliary tract cancer. PubMed, EMBASE, and the Cochrane Library were searched from inception to 13 October, 2025 for studies that included at least ten patients with suspected or confirmed biliary tract cancer and extractable bile cfDNA outcomes. Pooled proportions were estimated using random-effects models with Freeman-Tukey double-arcsine transformation. Bile-versus-plasma detection was compared using pooled log risk ratios. Heterogeneity was quantified by I, with a 95% prediction interval for the primary conservative estimate. Risk of bias was assessed with the Quality Assessment of Diagnostic Accuracy Studies-2 tool. Eight studies including 271 patients with biliary tract cancer were included. After excluding two cohorts with 100% detection, the conservative pooled bile cfDNA molecular detection rate was 59.1% (95% confidence interval [CI] 49.0-68.7; I = 50.4%) with a 95% prediction interval of 33.3-82.5%. Bile cfDNA showed higher molecular detection than plasma cfDNA in within-study comparisons (risk ratio 1.58, 95% CI 1.19-2.10; I = 0%), with directionally higher allele fractions in bile. Bile-tissue concordance was 82.7% (95% CI 69.1-93.5; I = 43.7%). Among patients with non-diagnostic biliary cytology, incremental molecular detection yield was 36.6% (95% CI 26.9-46.9; I = 0%). Potentially actionable FGFR2 fusions, IDH1 mutations, and ERBB2 alterations were reported across five studies but were summarized descriptively because actionability definitions and reporting units varied. Bile cfDNA showed higher molecular detection than plasma cfDNA and supported molecular profiling when tumor tissue was insufficient, but detection and endpoint heterogeneity limit its use as a stand-alone diagnostic test. Its role is best defined as opportunistic molecular profiling during indicated biliary procedures, pending prospective multicenter validation with standardized protocols. PROSPERO CRD420251250742 (registered prospectively prior to study conduct).