Annals of Hematology最新文献

筛选
英文 中文
Identification of molecular clusters and a risk prognosis model for diffuse large B-cell lymphoma based on lactate metabolism-related genes. 基于乳酸代谢相关基因的弥漫性大b细胞淋巴瘤分子群鉴定及风险预后模型
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-05 DOI: 10.1007/s00277-025-06321-1
Jie Zhang, Ting Gao, Shan Chen, Shuang Wu, Yong Mao, Dongyan Cai, Tingxun Lu
{"title":"Identification of molecular clusters and a risk prognosis model for diffuse large B-cell lymphoma based on lactate metabolism-related genes.","authors":"Jie Zhang, Ting Gao, Shan Chen, Shuang Wu, Yong Mao, Dongyan Cai, Tingxun Lu","doi":"10.1007/s00277-025-06321-1","DOIUrl":"10.1007/s00277-025-06321-1","url":null,"abstract":"<p><p>Diffuse large B-cell lymphoma (DLBCL) is a leading cause of morbidity and mortality among lymphomas in adults, with tumor cells undergoing metabolic reprogramming linked to the immune microenvironment. This study explored the relationship between lactate metabolism-related genes (LMRGs), DLBCL prognosis, and immune microenvironment interactions. Publicly available datasets (GSE10846 and GSE87371) were analyzed, with LMRGs identified using Cox regression and LASSO regression. A risk prognosis model comprising five LMRGs was developed, showing that high-risk patients had worse outcomes due to adverse clinical features, aggressive immune microenvironments, and poor treatment responses. A nomogram combining the model with clinical data predicted 1-, 3-, and 5-year survival. Single-cell RNA sequencing indicated that high LMRG risk scores in B cells may promote immunosuppression via the MIF-CD74/CXCR4 pathway. Functional validation revealed that SDHA knockdown reduced DLBCL cell proliferation in U2932 and KIS-1 cell lines. This LMRG-based model serves as a valuable tool for predicting survival, immune landscape, and clinical risk stratification in DLBCL patients, while also highlighting the crucial role of lactate metabolism in DLBCL pathogenesis. Furthermore, these findings underscore the potential of LMRGs risk scores to guide personalized therapies and improve treatment outcomes.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2847-2867"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alemtuzumab for haematological malignancies. 阿仑单抗用于血液恶性肿瘤。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-11 DOI: 10.1007/s00277-025-06344-8
Ning An, Kangqi Bian, Chunrui Li
{"title":"Alemtuzumab for haematological malignancies.","authors":"Ning An, Kangqi Bian, Chunrui Li","doi":"10.1007/s00277-025-06344-8","DOIUrl":"10.1007/s00277-025-06344-8","url":null,"abstract":"<p><p>Alemtuzumab is a humanized recombinant monoclonal antibody that specifically targets the CD52 antigen, which is expressed on both malignant and normal T and B lymphocytes. By binding to CD52, alemtuzumab exerts potent antitumor and immunosuppressive effects. Initially approved by the FDA in 2001 for the treatment of B-cell chronic lymphocytic leukemia (B-CLL), alemtuzumab's therapeutic applications have expanded to various hematologic malignancies, including lymphoma, acute leukemia, myelodysplastic syndromes (MDS), aplastic anemia (AA), graft-versus-host disease (GVHD), and chimeric antigen receptor T-cell (CAR-T) therapy. This review evaluates the efficacy and safety of alemtuzumab in these conditions, aiming to synthesize current evidence and provide guidance for clinical practice to optimize the use of alemtuzumab in the treatment of these diseases.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2593-2603"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From severe aplastic anemia with TERT variant to Wilson disease - associations or not. 从TERT变异的严重再生障碍性贫血到威尔逊病——是否有关联。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-21 DOI: 10.1007/s00277-025-06370-6
Tong Chen, Jia Song, Limin Xing, Jin Chen, Xifeng Dong, Lijuan Li, Junfeng Yang, Wentian Liu, Zonghong Shao, Rong Fu
{"title":"From severe aplastic anemia with TERT variant to Wilson disease - associations or not.","authors":"Tong Chen, Jia Song, Limin Xing, Jin Chen, Xifeng Dong, Lijuan Li, Junfeng Yang, Wentian Liu, Zonghong Shao, Rong Fu","doi":"10.1007/s00277-025-06370-6","DOIUrl":"10.1007/s00277-025-06370-6","url":null,"abstract":"<p><p>Severe aplastic anemia is a life-threatening ineffective hematopoiesis, arising from inherited or acquired traits. Wilson disease is a rare congenital metabolic disorder with copper accumulation. Here we report a rare case of a 15-year-old boy, who presented with bone marrow failure. Whole exome sequencing revealed several gene mutations in ATP7B and TERT. Based on the phenotypes, telomere lengths and pedigree of his family, the patient was diagnosed with severe aplastic anemia accompanied by Wilson disease. Allogeneic hematopoietic stem cell transplantation and anti-copper therapy helped him achieve transfusion independence and restore relatively normal copper metabolism. We discussed the possible associations between the two rare conditions and optimal management in this situation.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3011-3018"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characteristics and prognostic factors in patients with fever of unknown origin who developed secondary haemophagocytic lymphohistiocytosis. 不明原因发热继发嗜血球性淋巴组织细胞增多症患者的临床特点及预后因素分析。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-02-20 DOI: 10.1007/s00277-024-06174-0
Zhe Zhou, Guanmin Yuan, Yang Li, Haocheng Zhang, Shenglei Yu, Lingyun Shao, Jingwen Ai, Wenhong Zhang
{"title":"Clinical characteristics and prognostic factors in patients with fever of unknown origin who developed secondary haemophagocytic lymphohistiocytosis.","authors":"Zhe Zhou, Guanmin Yuan, Yang Li, Haocheng Zhang, Shenglei Yu, Lingyun Shao, Jingwen Ai, Wenhong Zhang","doi":"10.1007/s00277-024-06174-0","DOIUrl":"10.1007/s00277-024-06174-0","url":null,"abstract":"<p><strong>Background: </strong>Patients with fever of unknown origin (FUO) can sometimes be accompanied by haemophagocytic lymphohistiocytosis (HLH), a life-threatening disease. The prognostic model and specific markers for the early prognosis and the optimized treatment regimen are of considerable research interest.</p><p><strong>Results: </strong>A total of 135 FUO/HLH patients were enrolled and classified according to the 60-day outcomes following diagnosis. 79 patients (including 5 patients lost in follow-up) enrolled from 2007 to 2015 served as the derivation cohort, and 56 patients from 2016 to 2023 served as the validation cohort. In the derivation cohort, 27 patients (27/74, 36.5%) survived within 60 days and multivariate analyses showed that age > 67 years (P = 0.003), baseline PLT < 42 × 10^9/L (P = 0.012) and LDH > 1505 U/L (P = 0.002) were associated with a higher mortality rate in HLH patients. The external validation proved the reliability of the prediction model. In derivation cohort, the median alteration of PLT (△PLT) were + 78 × 10^9/L and - 17 × 10^9/L in the survival and non-survival groups, respectively (P < 0.001). The median △LDH was - 197.5U/L in the survival group, while in the non-survival group was + 119U/L (P < 0.001).</p><p><strong>Conclusions: </strong>Age, baseline LDH and PLT levels may predict early mortality in secondary HLH patients and identify patients in critical conditions. △LDH and △PLT levels were of high value to monitor the efficacy of therapeutic regimen and the disease progression in HLH patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2683-2691"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outcomes of the transformation to diffuse large B-cell lymphoma in hodgkin lymphoma and indolent B-cell non-Hodgkin lymphoma: a population-based study. 霍奇金淋巴瘤和惰性b细胞非霍奇金淋巴瘤向弥漫性大b细胞淋巴瘤转化的结果:一项基于人群的研究
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-05-05 DOI: 10.1007/s00277-025-06395-x
Wenshuai Zheng, Bo Peng, Huaxin Chen, Shenyu Wang, Lixun Guan, Xiaoning Gao
{"title":"Outcomes of the transformation to diffuse large B-cell lymphoma in hodgkin lymphoma and indolent B-cell non-Hodgkin lymphoma: a population-based study.","authors":"Wenshuai Zheng, Bo Peng, Huaxin Chen, Shenyu Wang, Lixun Guan, Xiaoning Gao","doi":"10.1007/s00277-025-06395-x","DOIUrl":"10.1007/s00277-025-06395-x","url":null,"abstract":"<p><p>Histological transformation (HT) to diffuse large B-cell lymphoma (DLBCL) can occur in both Hodgkin lymphoma (HL) and indolent B-cell non-Hodgkin lymphoma (B-NHL), typically associated with poor clinical outcomes. However, following the introduction of rituximab, the prognosis of transformed DLBCL (t-DLBCL) has shown considerable variability across studies. This study aimed to evaluate the outcomes of t-DLBCL originating from HL and indolent B-NHL, and to compare survival rates between t-DLBCL and primary DLBCL (p-DLBCL). Data were extracted from the Surveillance, Epidemiology, and End Results (SEER) database to identify patients diagnosed with primary HL or indolent B-NHL between 2000 and 2021, and those diagnosed with p-DLBCL during the same time. A total of 3,508 cases of t-DLBCL were identified. Compared to patients without HT, those with HT exhibited significantly worse survival outcomes. The post-transformation survival (PTS) rates at 5-year were 49.4%, 49.4%, 46.2%, 31.4% and 26.4% for t-DLBCL originating from HL, follicular lymphoma (FL), marginal zone lymphoma (MZL), lymphoplasmacytic lymphoma/Waldenström macroglobulinemia and chronic lymphocytic leukemia/small lymphocytic lymphoma, respectively. Factors such as age at HT, sex, marital status at HT, disease stage at HT, initial therapy prior to HT, and treatment regimen at HT were significantly associated with the prognosis of t-DLBCL. Notably, the PTS of specific subgroups of t-DLBCL, including patients younger than 65 years originating from FL with radiotherapy prior to HT, and those originating from MZL with either \"watch and wait\" or radiotherapy prior to HT, was comparable to that of matched p-DLBCL. Given the heterogeneous prognosis observed in t-DLBCL, treatment strategies should be tailored accordingly.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2799-2811"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An unexpected find of multifocal extranodal marginal zone lymphoma. 意外发现多灶性结外边缘区淋巴瘤。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-03 DOI: 10.1007/s00277-025-06283-4
Glenn Van den Bosch, M Develter, J Willemse, J Boes, K Somers, U Douven
{"title":"An unexpected find of multifocal extranodal marginal zone lymphoma.","authors":"Glenn Van den Bosch, M Develter, J Willemse, J Boes, K Somers, U Douven","doi":"10.1007/s00277-025-06283-4","DOIUrl":"10.1007/s00277-025-06283-4","url":null,"abstract":"<p><p>In this case report we describe a patient who was diagnosed with extranodal marginal zone lymphoma (EMZL) at two different body sites, namely at the mucosa of the stomach and the lung. Since the patient presented with a main complaint of dyspnoea, this was a rather unexpected medical finding. To our knowledge, this is even the first case of multifocal EMZL in which the coexistent involvement of the stomach and lung is extensively documented. All medical and technical investigations that were performed during diagnosis and staging are described whilst discussing the typical characteristics of these kinds of lymphomas as stated in current guidelines and literature.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3029-3034"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular response with asciminib 20 mg QD in a patient intolerant to multiple TKIs. 阿西米尼20mg QD治疗多重TKIs不耐受患者的分子反应。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-07 DOI: 10.1007/s00277-025-06339-5
Ruth Stuckey, Laura Navarrete Bullón, Asunción Borrero Borrego, Violeta Vidal Ballester, Carlos Rodríguez-Medina, Alejandro Morales Curbelo, Leslie González Pinedo, Melissa Torres Ochando, Alvaro Veiga Vaz, María Del Mar Perera, Cristina Bilbao-Sieyro, Juan Francisco López Rodríguez, Adrián Segura-Díaz, María Teresa Gómez-Casares
{"title":"Molecular response with asciminib 20 mg QD in a patient intolerant to multiple TKIs.","authors":"Ruth Stuckey, Laura Navarrete Bullón, Asunción Borrero Borrego, Violeta Vidal Ballester, Carlos Rodríguez-Medina, Alejandro Morales Curbelo, Leslie González Pinedo, Melissa Torres Ochando, Alvaro Veiga Vaz, María Del Mar Perera, Cristina Bilbao-Sieyro, Juan Francisco López Rodríguez, Adrián Segura-Díaz, María Teresa Gómez-Casares","doi":"10.1007/s00277-025-06339-5","DOIUrl":"10.1007/s00277-025-06339-5","url":null,"abstract":"<p><p>This case highlights a young CML patient who achieved a major molecular response (MMR) after just four months with a subtherapeutic dose of asciminib. The patient could not tolerate full-dose asciminib, or the full dose of two previous tyrosine kinase inhibitors (TKI) due to myelotoxicity, but blood counts recovered rapidly upon TKI suspension and reduced dosing enabled sustained treatment. This is the second reported case of the use of 20 mg QD asciminib, four times below the recommended dose, and the first to demonstrate efficacy at this dose. The study emphasizes asciminib's potential for overcoming treatment challenges associated with multi-resistant/intolerant CML patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3007-3009"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CpG can induce the proliferation and differentiation of B10 cells in the peripheral blood of children with immune thrombocytopenic purpura. CpG可诱导免疫性血小板减少性紫癜患儿外周血B10细胞增殖分化。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2024-11-30 DOI: 10.1007/s00277-024-06105-z
Shuge Gu, Min Chen, Wenhao Xu, Han Zhang, Haixia Zhou
{"title":"CpG can induce the proliferation and differentiation of B10 cells in the peripheral blood of children with immune thrombocytopenic purpura.","authors":"Shuge Gu, Min Chen, Wenhao Xu, Han Zhang, Haixia Zhou","doi":"10.1007/s00277-024-06105-z","DOIUrl":"10.1007/s00277-024-06105-z","url":null,"abstract":"<p><p>Immune thrombocytopenic purpura (ITP) is a disease with a pathogenesis that remains unclear. Accordingly, this study aims to explore the role of B10 cells in ITP pathogenesis and provide a potential novel target for ITP treatment. We selected 42 children diagnosed with ITP and 29 age- and sex-matched healthy children as study objects. Peripheral blood mononuclear cells were isolated and treated with Golgplug combined with CD40L or CpG combined with CD40L, respectively. After 5 h and 48 h in vitro culture, the proportion of B10 cells in CD19 + cells was compared by flow cytometry and intracellular staining between the two groups. ITP children's prognosis was followed up to analyze the relationship between the proportion of B10 cells and the prognosis of ITP. Without CpG stimulation, the proportion of B10 cells in the peripheral blood of ITP children and healthy counterparts did not differ after 5-h in vitro culture. After 48-h in vitro culture, the proportion of B10 cells in the peripheral blood of ITP children without CpG stimulation was significantly higher than in the control group. Under CpG stimulation, the proportion of B10 cells in the peripheral blood of ITP children cultured in vitro was higher than that in the control group. In children with ITP, the proportion of peripheral blood B cells increased. Additionally, CD19 + cells were more sensitive to CpG-induced TLR9 signal stimulation in children with ITP than those in their healthy counterparts. These findings provide a research direction for ITP pathogenesis.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2671-2681"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Understanding gut Microbiome changes in Korean children, adolescents, and young adults with hematologic malignancies. 了解韩国儿童、青少年和青年血液恶性肿瘤患者肠道微生物组的变化。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-03-12 DOI: 10.1007/s00277-025-06293-2
Meerim Park, Jongheon Jung, Jun Ah Lee, Eunyoung Lee, Hyewon Lee, Hyeon Seok Eom, Hyeon Jin Park
{"title":"Understanding gut Microbiome changes in Korean children, adolescents, and young adults with hematologic malignancies.","authors":"Meerim Park, Jongheon Jung, Jun Ah Lee, Eunyoung Lee, Hyewon Lee, Hyeon Seok Eom, Hyeon Jin Park","doi":"10.1007/s00277-025-06293-2","DOIUrl":"10.1007/s00277-025-06293-2","url":null,"abstract":"<p><p>We investigated whether changes in the gut microbiome composition are associated with infections and immunologic complications during the treatment of Korean children, adolescents, and young adults (AYAs) with hematologic malignancies. We analyzed stool samples from 26 patients and 10 healthy siblings using 16 S rRNA gene sequencing. At diagnosis, patients exhibited a lower abundance of Lachnospiraceae and a higher abundance of Enterococcaceae than their healthy siblings. Both the Chao1 and Shannon diversity indices declined from diagnosis to the end of induction chemotherapy. Patients with fever during induction had a lower baseline microbial diversity and higher Ruminococcus g4 abundance than those without fever. The use of either meropenem or piperacillin/tazobactam during induction was correlated with reduced richness and altered composition of the gut microbiome after induction. The Chao index and beta diversity of stool samples significantly differed before conditioning when compared with those of healthy siblings. During allogeneic hematopoietic stem cell transplantation, both the Chao1 and Shannon diversity indices significantly decreased on day 14 but recovered by day 60. Our study highlights the role of gut microbiome diversity and compositional structure in influencing treatment outcomes in children and AYA with hematologic malignancies, providing the information required to improve the gut microbiome configuration and treatment outcomes.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2947-2961"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis. 髓系肿瘤DDX41突变的临床病理和预后意义:系统回顾和荟萃分析。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-05-01 Epub Date: 2025-04-21 DOI: 10.1007/s00277-025-06278-1
Liying Miao, Xin Wang, Minghui Yao, Yihao Tao, Yangyang Han
{"title":"Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.","authors":"Liying Miao, Xin Wang, Minghui Yao, Yihao Tao, Yangyang Han","doi":"10.1007/s00277-025-06278-1","DOIUrl":"10.1007/s00277-025-06278-1","url":null,"abstract":"<p><p>DDX41 is one of the most frequently altered genes in familial acute myeloid leukemia/myelodysplastic syndrome (AML/MDS). Mutation of DDX41 has been widely reported in various types of myeloid neoplasms. This systematic review and meta-analysis were conducted to assess the clinical characteristics and relationship between DDX41 mutations and OS in myeloid neoplasm patients. We thoroughly searched the PubMed, the Cochrane Library, Embase, Web of Science, MEDLINE, and Google Scholar databases. Two reviewers separately reviewed and extracted the data. Twenty studies totaling 9,058 patients have been integrated into the meta-analysis. The extensive pooled analysis showed a significant association between DDX41 mutations and improved OS (HR 0.70, 95% CI 0.52-0.93, P = 0.01). Subgroup analysis confirmed that DDX41 mutation operated to be a reliable positive indicator of OS when subdivided by different types of myeloid neoplasms. In terms of the clinicopathological value, DDX41 mutations were significantly correlated with the male sex. Age, AML prevalence, bone marrow, or white blood cell counts did not correlate with any findings. The top three genetic variants were p.M1I, p.D140fs, and p.R525H. Co-mutations in patients with DDX41 mutations most commonly include the following: additional sex combs-like 1 (ASXL1), DNA methyltransferase 3 A (DNMT3A), tumor protein p53 (TP53), ten-eleven translocation 2 (TET2) and serine/arginine-rich splicing factor 2 (SRSF2). Our results substantiate that DDX41 mutations were associated with significantly good OS and provide more insight into the clinicopathological characteristics of DDX41 mutations in individuals with myeloid neoplasms.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"2581-2591"},"PeriodicalIF":3.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信