Current Research in Translational Medicine最新文献

{"title":"AI-assisted statistical review of 100 oncology research articles: compliance with SAMPL guidelines","authors":"Michal Ordak","doi":"10.1016/j.retram.2025.103544","DOIUrl":"10.1016/j.retram.2025.103544","url":null,"abstract":"<div><h3>Background</h3><div><strong>:</strong> Ensuring accurate statistical reporting is critical in oncology research, where data-driven conclusions impact clinical decision-making. Despite standardized guidelines such as the Statistical Analyses and Methods in the Published Literature (SAMPL), adherence remains inconsistent. This study evaluates the performance of Gemini Advanced 2.0 Flash, an AI model, in assessing compliance with SAMPL guidelines in oncology research articles.</div></div><div><h3>Methods</h3><div><strong>:</strong> A total of 100 original research articles published in four peer-reviewed oncology journals (October 2024–February 2025) were analyzed. Gemini Advanced 2.0 Flash assessed adherence to ten key SAMPL guidelines, categorizing each as \"not met,\" \"partially met,\" or \"fully met.\" AI evaluations were compared with independent assessments by a statistical editor, with agreement quantified using Cohen’s Kappa coefficient.</div></div><div><h3>Results</h3><div>The overall weighted Kappa coefficient was 0.77 (95 % CI: 0.6–0.94), indicating substantial agreement between AI and manual assessment. Full agreement (Kappa = 1) was found for four guidelines, including naming statistical packages and reporting confidence intervals. High agreement was observed for specifying statistical methods (Kappa = 0.85) and confirming test assumptions (Kappa = 0.75). Moderate agreement was noted for summarizing non-normally distributed data (Kappa = 0.42) and specifying test directionality (Kappa = 0.43). The lowest agreement (Kappa = 0.37) was observed in multiple comparison adjustments due to missing justifications for post hoc tests.</div></div><div><h3>Conclusion</h3><div><strong>:</strong> AI-assisted evaluation showed substantial agreement with expert assessment, demonstrating its potential in statistical review. However, discrepancies in specific guidelines suggest human oversight remains essential for ensuring statistical rigor in oncology research. Further refinement of AI models may enhance their reliability in scientific publishing.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103544"},"PeriodicalIF":3.0,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157108","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":"Optimized GMP-grade Wharton’s jelly’s mesenchymal stromal cells manufacturing and administration protocol for Graft versus Host disease prevention","authors":"Cécile Pochon ,&nbsp;Romain Perouf ,&nbsp;Anne-Béatrice Notarantonio ,&nbsp;Allan Bertrand ,&nbsp;Naceur Charif ,&nbsp;De Carvalho Bittencourt Marcelo ,&nbsp;Guillemette Fouquet ,&nbsp;Ghislaine Cauchois ,&nbsp;Danièle Bensoussan ,&nbsp;David Moulin ,&nbsp;Simona Pagliuca ,&nbsp;Natalia de Isla ,&nbsp;Hervé Sartelet ,&nbsp;Maud D’Aveni ,&nbsp;Marie-Thérèse Rubio","doi":"10.1016/j.retram.2025.103543","DOIUrl":"10.1016/j.retram.2025.103543","url":null,"abstract":"<div><h3>Background</h3><div>Wharton's jelly mesenchymal stromal cells (WJ-MSCs) are multipotent cells derived from the umbilical cord with immunomodulatory properties, making them a promising candidate for cell-based therapies targeting immune-related diseases. Herein, we aim to optimize the conditions of use of clinical-grade WJ-MSCs manufactured according to Good Manufacturing Practice (GMP) for the prevention of graft versus host disease (GVHD) in a preclinical xenogeneic GVHD mouse model.</div></div><div><h3>Methods</h3><div>GMP-compliant WJ-MSCs were primed with IFN-γ and assessed <em>in vitro</em> for their immunosuppressive capacity using coculture assays with activated human T cells. To evaluate <em>in vivo</em> efficacy, NSG mice were sub-lethally irradiated (2 Gy) and transplanted with human peripheral mononuclear cells, then treated with one or more injections of IFN-γ-primed or unprimed WJ-MSCs, to assess xeno- GVHD and its severity.</div></div><div><h3>Results</h3><div>GMP-produced WJ-MSCs suppressed T-cell proliferation <em>in vitro</em> and IFN-γ priming enhanced this effect, largely through Indoleamine 2,3-dioxygenase (IDO) activity<em>. In vivo</em>, three weekly injections of IFN-γ-primed WJ-MSCs significantly improved survival and reduced histological GVHD scores in the liver and skin of recipient mice.</div></div><div><h3>Conclusion</h3><div>These findings demonstrate that IFN-γ-primed GMP-grade WJ-MSCs effectively prevent GVHD in preclinical models, and support their use in optimized dosing regimens for future clinical testing. Given their enhanced immunosuppressive efficacy, they also hold promise as a therapeutic option for established and treatment-refractory forms of GVHD.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103543"},"PeriodicalIF":3.0,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145060642","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":"Successful treatment of congenital sideroblastic anemia with low-dose decitabine in a patient with NDUFB11 gene mutation (c.276_278del): A case report","authors":"Juan Wang ,&nbsp;Heng Li ,&nbsp;Nan Lv ,&nbsp;Min Wang ,&nbsp;Hongyu Zhao","doi":"10.1016/j.retram.2025.103542","DOIUrl":"10.1016/j.retram.2025.103542","url":null,"abstract":"<div><h3>Background</h3><div>Congenital sideroblastic anemias (CSAs) are an inherited group of blood disorders due to defects of mitochondrial proteins. The <em>NDUFB11</em> gene is essential for the assembly of mitochondrial complex Ⅰ protein. Mutations in the <em>NDUFB11</em> gene can cause sideroblastic anemia with hyperlacticemia, microphthalmia, cardiomyopathy and encephalomyopathy with limited therapeutic options.</div></div><div><h3>Case presentation</h3><div>We reported a 35-year-old man with congenital sideroblastic anemia, skeletal dysplasias and hyperlacticemia. The skeletal muscle stains indicated probability of mitochondrial disorders. By whole-exome sequencing, we identified a mutation (c.276_278delCTT) in <em>NDUFB11</em> gene in this patient which was inherited from his mother. He was unresponsive to the treatment of vitamin B2, vitamin B6, Coenzyme Q10, idebenone, or EPO but achieved hemoglobin concentration rise, transfusion independence and improvement of quality life after treated with low dose decitabine.</div></div><div><h3>Conclusions</h3><div>We proposed that epigenetic factors might play a role in pathogenesis in patients with c.276_278del (p.F93del) mutation in <em>NDUFB11</em> gene and low dose decitabine may be a novel treatment in CSA patients with c.276_278del (p.F93del) mutation in <em>NDUFB11</em> gene.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103542"},"PeriodicalIF":3.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157109","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":"Explainable AI for Parkinson’s disease prediction: A machine learning approach with interpretable models","authors":"Adebimpe O. Esan ,&nbsp;David B. Olawade ,&nbsp;Afeez A. Soladoye ,&nbsp;Bolaji A. Omodunbi ,&nbsp;Ibrahim A. Adeyanju ,&nbsp;Nicholas Aderinto","doi":"10.1016/j.retram.2025.103541","DOIUrl":"10.1016/j.retram.2025.103541","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson’s Disease (PD) is a chronic, progressive neurological disorder with significant clinical and economic impacts globally. Early and accurate prediction remains challenging with traditional diagnostic methods due to subjectivity, delayed diagnosis, and variability. Machine Learning (ML) approaches offer potential solutions, yet their clinical adoption is hindered by limited interpretability. This study aimed to develop an interpretable ML model for early and accurate PD prediction using comprehensive multimodal datasets and Explainable Artificial Intelligence (XAI) techniques.</div></div><div><h3>Methods</h3><div>The study applied five ML algorithms: Support Vector Machine (SVM), K-Nearest Neighbors (KNN), Logistic Regression (LR), Random Forest (RF), XGBoost, and a stacked ensemble method to a publicly available dataset (<em>n</em> = 2105) from Kaggle. Data encompassed demographic, medical history, lifestyle, clinical symptoms, cognitive, and functional assessments with specific inclusion/exclusion criteria applied. Preprocessing involved normalization, Synthetic Minority Oversampling Technique (SMOTE), and Sequential Backward Elimination (SBE) for feature selection. Model performance was evaluated via accuracy, precision, recall, F1-score, and Area Under Curve (AUC). The best-performing model (RF with feature selection) was interpreted using SHAP and LIME methods.</div></div><div><h3>Results</h3><div>Random Forest combined with Backward Elimination Feature Selection achieved the highest predictive accuracy (93 %), precision (93 %), recall (93 %), F1-score (93 %), and AUC (0.97). SHAP and LIME analyses indicated UPDRS scores, cognitive impairment, functional assessment, and motor symptoms as primary predictors, enhancing clinical interpretability.</div></div><div><h3>Conclusion</h3><div>The study demonstrated the effectiveness of an interpretable RF model for accurate PD prediction. Integration of ML and XAI significantly improves clinical decision-making, diagnosis timing, and personalized patient care.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103541"},"PeriodicalIF":3.0,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145048755","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":"Could adherence to SAMPL Guidelines improve statistical reporting in clinical manuscripts? Insights from 150 editorial reviews for specialty journals","authors":"Michal Ordak","doi":"10.1016/j.retram.2025.103536","DOIUrl":"10.1016/j.retram.2025.103536","url":null,"abstract":"<div><h3>Background</h3><div>Although statistical reporting guidelines such as SAMPL (Statistical Analyses and Methods in the Published Literature) exist, statistical errors remain common in biomedical manuscripts. This study investigates whether early author adherence to SAMPL can reduce the need for statistical revision and offers recommendations for broader editorial implementation.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 150 statistical reviews performed by the author between 2020 and 2025 for clinical medicine journals. Each manuscript was assessed for adherence to key SAMPL principles, including clarity of statistical methods, reporting of assumptions, and presentation of descriptive data. Outcomes were categorized as acceptance, revision (major/minor), or rejection.</div></div><div><h3>Results</h3><div>Of the 150 manuscripts, 99 (66 %) were accepted following SAMPL-based revisions: 87 after one round and 12 after two rounds (<em>p</em> &lt; 0.001). The remaining 51 (34 %) were rejected, primarily due to issues such as inappropriate test use or lack of methodological justification. Among 39 manuscripts with conflicting reviewer opinions, SAMPL-based review helped resolve ambiguity, resulting in 25 rejections and 14 acceptances (<em>p</em> = 0.02). Of the accepted manuscripts, 65 % required major revisions and 35 % minor revisions (<em>p</em> = 0.004).</div></div><div><h3>Conclusion</h3><div>Proactive adherence to the SAMPL Guidelines may reduce editorial workload, improve clarity, and lower preventable rejections. Integrating structured reporting standards into submission processes could enhance transparency and consistency in statistical reporting. These findings support the use of SAMPL-based checklists to improve manuscript quality and streamline peer review.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103536"},"PeriodicalIF":3.0,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144879311","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":"Expert consensus on the management of cytomegalovirus infection in pediatric allogeneic hematopoietic stem cell transplantation","authors":"Simone Cesaro ,&nbsp;Manuela Spadea ,&nbsp;Franca Fagioli ,&nbsp;Fulvio Porta ,&nbsp;Marco Rabusin ,&nbsp;Giulia Ferrando ,&nbsp;Adriana Balduzzi ,&nbsp;Arcangelo Prete ,&nbsp;Marco Zecca ,&nbsp;Maura Faraci","doi":"10.1016/j.retram.2025.103535","DOIUrl":"10.1016/j.retram.2025.103535","url":null,"abstract":"<div><div>Cytomegalovirus (CMV) infection is the most frequent viral complication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). In the pediatric setting, several issues on its management are still debated due to the limited evidence compared to adults. The aim of this consensus was to promote harmonization of practices to improve prevention, control and treatment of CMV infection in children and adolescents.</div><div>Consensus was generated through voting by a panel of experts from 8 Italian pediatric transplant units who selected 11 topics on prevention of CMV infection and disease, risk factors, diagnosis, prophylaxis, pre-emptive, and therapeutic approaches and formulated 11 statements.</div><div>Statements were generated on impact of CMV infection on allo-HSCT outcome; risk factors for infection; monitoring of patients at risk; duration of infection risk; CMV prophylaxis and CMV pre-emptive strategies; choice of the antiviral therapy; use of CMV-IgG; antiviral combination therapy; role of adoptive cell therapy; therapeutic drug monitoring. All statements reached a mean score of ≥7 (agreement) at the first voting round and reached an even higher level of consensus at the second voting round after discussion and possible modification of some statements.</div><div>In conclusion, CMV infection is a risk factor for lower survival and higher non-relapse mortality. We propose a set of expert consensus-generated recommendations aimed at harmonizing the management of CMV infection in pediatric allo-HSCT. We recognize that this field has several unmet needs and emphasize the need for further specific clinical investigations.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103535"},"PeriodicalIF":3.0,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144887590","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":"Immunotherapy with ex vivo–expanded donor-derived NK cells after haploidentical HSCT in pediatric patients with AML: a phase I pilot study","authors":"Tahereh Rostami ,&nbsp;Mohammad Ahmadvand ,&nbsp;Bahram Chahardoli ,&nbsp;Mohammad Reza Rostami ,&nbsp;Mojtaba Azari ,&nbsp;Morteza Azari ,&nbsp;Azadeh Kiumarsi ,&nbsp;Ghasem Janbabaei","doi":"10.1016/j.retram.2025.103534","DOIUrl":"10.1016/j.retram.2025.103534","url":null,"abstract":"<div><h3>Background</h3><div>Post-transplant relapse remains a considerable challenge for achieving successful outcomes in pediatric patients with acute myeloid leukemia (AML) receiving haploidentical hematopoietic stem cell transplantation (HSCT). Adoptive immune cell therapy strategies utilizing highly purified donor-derived natural killer (NK) cells have been extensively explored in various transplantation settings, demonstrating promise in preventing disease recurrence, especially in pediatric AML patients.</div></div><div><h3>Methods</h3><div>Five pediatric and adolescent patients with high-risk AML were included in this pilot study and received haploidentical HSCT. On day 7 post-HSCT, all the patients received a single infusion of interleukin (IL)-2 stimulated ex vivo-expanded haploidentical NK cells (1 × 10⁶/kg CD56+ cells of patient body weight).</div></div><div><h3>Results</h3><div>All the patients tolerated the administration of NK cells without any adverse events during or after the infusion. Relapse occurred in two patients, both within the first 100 days post-transplantation, while three patients remained alive and disease-free one year post-transplantation.</div></div><div><h3>Conclusion</h3><div>This pilot study demonstrated that the activation, expansion, and infusion of NK cells from readily available haploidentical donors in pediatric and adolescent patients with high-risk AML after HSCT is safe and feasible.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103534"},"PeriodicalIF":3.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144904040","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":"Bone marrow vacuolization to curative strategies: Evolving paradigms in VEXAS syndrome management.","authors":"Mahmoud I Elbadry, Mohamed Mabed","doi":"10.1016/j.retram.2025.103533","DOIUrl":"https://doi.org/10.1016/j.retram.2025.103533","url":null,"abstract":"<p><p>VEXAS syndrome (vacuoles, E1 enzyme, X-linked alongside autoinflammatory and somatic) is a severe aggressive inflammation disorder arising in adults that results from acquired changes to the UBA1 gene. These genetic alterations lead to widespread chronic systemic inflammation, prominent features of clonal hematopoiesis, and worsening cytopenic decays alongside hematological malignancies. The grim prognosis includes survival-seeking patients facing life-threatening infections, bone marrow failure or thrombotic complications with only 76 % three-year survival rate. It mainly occurs in older men but rare cases in women stem from atypical patterns of X-chromosome inactivation. This syndrome shares characteristics with autoimmune disorders like relapsing polychondritis and blood disorders predominantly myelodysplastic syndromes. Diagnosis requires UBA1 genetic analysis and bone marrow examination which shows characteristic vacuolization in myeloid and erythroid progenitors. Current therapeutic approaches concentrate on fighting inflammation alongside supportive therapy. This includes infection control, transfusion administration, hypomethylating agents such as azacitidine, which provide the dual benefit of reducing mutant clones alongside inflammation, as well as immunosuppressive drugs, steroids, and Janus Kinase (JAK) inhibitors. Even though allogeneic hematopoietic stem cell transplantation (HSCT) remains the sole option for a cure, its extensive toxicity limits widespread application. Some investigational therapies targeting specific pathways show promise, particularly nucleotide-binding domain, Leucine-rich Repeat-containing family, pyrin domain containing 3 (NLRP3) inflammasome blockers (IL-1β/IL-6 inhibitors) and proteasome inhibitors like bortezomib (Bortezomib), which exploit the proteostasis defects in UBA1-mutated cells. Core obstacles still lie in the absence of a standardized treatment paradigm due to gaps in genotype-phenotype expression and variability, alongside insufficient biomarkers able to guide therapy selection and directed personalized therapeutic interventions. This review highlights the curative strategies, therapeutic challenges, and advancements in VEXAS syndrome, underscoring the urgent need for targeted strategies to improve the patient outcomes.</p>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"103533"},"PeriodicalIF":3.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818245","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":"Effect of adipose-derived mesenchymal stromal/stem cells on mouse mammary tumour growth and formation of lung metastases","authors":"Kimberly T. Peta ,&nbsp;Chrisna Durandt ,&nbsp;Marlene B. van Heerden ,&nbsp;Michael S. Pepper ,&nbsp;Melvin A. Ambele","doi":"10.1016/j.retram.2025.103532","DOIUrl":"10.1016/j.retram.2025.103532","url":null,"abstract":"<div><h3>Background</h3><div>The role of mesenchymal stromal/stem cells (MSCs) in tumour development and progression remains a subject of debate. Previous studies have reported contradictory outcomes, possibly due to variations in experimental design and the use of xenograft models. Xenograft models limit interpretation and translation due to cross-species variability. To address these limitations, we employed an isogenic mouse model of spontaneous breast cancer (BC) to investigate the impact of murine MSCs on BC development and progression. Methods: MSCs isolated from FVB/N mouse adipose tissue (mASCs) were administered to female mice with palpable mammary tumours. Tumour volume and mass were assessed, and analysis of histopathological necrosis and gene expression was conducted on mammary (MT) and lung metastatic tumours (LT). Results: No change in MT mass and volume was observed between mASC-treated and control mice. However, mASC treatment led to increased necrosis in LT but not in MT. Immunohistochemistry revealed that mASC-treated mice had fewer CD163+ anti-inflammatory macrophages in the LT but not in the MT. Tgf-β3, vegfr1, and cd105 were observed and downregulated in both MT and LT in mASC-treated mice. The downregulation of cd36 and tgf-β3 contributes to pro-tumourigenic activities, whereas the downregulation of vegfr1 and cd105 is associated with an anti-tumour effect. In the mASC treatment group, all cytokines tested for, except IL-27, were elevated. Conclusion: This study suggests that mASCs are anti-tumourigenic in pulmonary metastatic BC. Our findings emphasize the importance of considering the tumour microenvironment and employing relevant animal models when investigating the impact of MSCs on tumour progression.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103532"},"PeriodicalIF":3.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738510","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":"CRISPR-Cas9: a prominent genome editing tool in the management of inherited blood disorders and hematological malignancies","authors":"Ghazaleh Behrouzian Fard,&nbsp;Mohammad Hossein Ahmadi,&nbsp;Mehran Gholamin,&nbsp;Mahdi Hosseini Bafghi","doi":"10.1016/j.retram.2025.103531","DOIUrl":"10.1016/j.retram.2025.103531","url":null,"abstract":"<div><div>Several hematologic diseases with genetic defects, like sickle cell disease and β-thalassemia can be treated with allogeneic hematopoietic stem cell transplantation (HSCT) from healthy donors. However, suitable tissue-matched donors are often unavailable, and HSCT involves risks such as graft-versus-host disease and potential disease relapse. Due to the genetic heterogeneity of blood disorders and the complexity of the hematopoietic system, identifying effective genes for managing and treating both benign and malignant conditions remains a significant challenge. The genome editing field is rapidly expanding and is essential for identifying genetic factors in pathological processes. These developments highlight the importance of using <em>ex vivo</em> gene therapy approaches for autologous hematopoietic stem cells. Also, gene editing technologies are gaining significant interest in engineered cell therapies for hematological malignancies . Today, various programmable nucleases are available for genome editing, with the clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) system standing out due to its high efficiency, low cytotoxicity, cost-effectiveness, and precision. This system can serve as a genomic modification tool for treating blood disorders, including hereditary diseases and immunotherapy for cancer using chimeric antigen receptor T cells (CAR-T cells). Advancements in CRISPR-Cas9 are expected to significantly impact medical research and clinical applications. However, challenges such as off-target effects and immunogenicity must be addressed. This review summarizes the mechanism and delivery strategies of CRISPR-Cas9, discusses its applications in treating inherited blood disorders such as sickle cell disease, β-thalassemia, and fanconi anemia, as well as hematological malignancies, and highlights the associated challenges.</div></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"73 4","pages":"Article 103531"},"PeriodicalIF":3.0,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144756846","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}