British Journal of Haematology最新文献

筛选
英文 中文
The role of CBFβ::MYH11 fusion gene in acute lysis pneumopathy: A dual impact on risk and prognosis. CBFβ::MYH11融合基因在急性溶解性肺病中的作用:对风险和预后的双重影响
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-31 DOI: 10.1111/bjh.70129
Shuangwei Ying, Luxin Yang, Lulu Zhang, Ruimin Hong, Wenda Luo, Yanping Shao, Jie Sun, Qunyi Guo, Yi Luo
{"title":"The role of CBFβ::MYH11 fusion gene in acute lysis pneumopathy: A dual impact on risk and prognosis.","authors":"Shuangwei Ying, Luxin Yang, Lulu Zhang, Ruimin Hong, Wenda Luo, Yanping Shao, Jie Sun, Qunyi Guo, Yi Luo","doi":"10.1111/bjh.70129","DOIUrl":"https://doi.org/10.1111/bjh.70129","url":null,"abstract":"<p><p>Acute lysis pneumopathy (ALP) is a rare but fatal complication that can occur during induction chemotherapy for newly diagnosed acute myeloid leukaemia (AML). Currently, there is a paucity of large case reports detailing high-risk and poor prognostic factors associated with its occurrence. To provide evidence-based guidance on ALP, we conducted a retrospective analysis of 608 patients with newly diagnosed AML (non-M3), among whom 20 developed ALP during hydroxycarbamide (hydroxyurea) therapy and/or induction chemotherapy, resulting in an overall incidence rate of 3.3% (20/608) and a mortality rate of 35% (7/20). Multivariable logistic regression revealed that male (odds ratio [OR] 5.852, 95% confidence interval [CI]: 1.006-34.028, p = 0.049), elevated leucocyte counts (OR 1.125, 95% CI: 1.050-1.205, p = 0.001) and CBFβ::MYH11 fusion positivity (OR 13.821, 95% CI: 3.002-63.634, p = 0.001) were independent risk factors for the occurrence of ALP. Notably, CBFβ::MYH11 fusion positivity was associated with improved survival in ALP patients (p = 0.015). This study provides preliminary insights into the risk and prognostic factors of ALP.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs. 基于欧洲的以色列犹太人和巴勒斯坦阿拉伯人b细胞非霍奇金淋巴瘤亚型多基因风险评分和全基因组关联研究
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-31 DOI: 10.1111/bjh.70125
Geffen Kleinstern, Dennis P Robinson, Rania Abu Seir, Riki Perlman, Jianjun Liu, Nidal Jebrini, Hussein Elyan, Dina Ben Yehuda, Susan L Slager, Ora Paltiel
{"title":"European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs.","authors":"Geffen Kleinstern, Dennis P Robinson, Rania Abu Seir, Riki Perlman, Jianjun Liu, Nidal Jebrini, Hussein Elyan, Dina Ben Yehuda, Susan L Slager, Ora Paltiel","doi":"10.1111/bjh.70125","DOIUrl":"https://doi.org/10.1111/bjh.70125","url":null,"abstract":"<p><p>Among individuals of European Ancestry (EA), genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) and polygenic risk scores (PRSs) associated with non-Hodgkin lymphoma (NHL) risk. We evaluated subtype-specific PRSs, based on established EA-SNPs, in Israeli Jews (IJ) and Palestinian Arabs (PA) and performed a GWAS in the combined ethnic groups to identify new loci. We included three common pathologically confirmed subtypes: diffuse large B-cell (DLBCL), follicular (FL) and marginal zone (MZL) lymphomas. Controls were frequency matched to cases by age and sex. Among 752 IJ (201-DLBCL; 130-FL; 54-MZL/367-controls) and 593 PA (203-DLBCL; 41-FL/349-controls), we computed PRSs weighted by EA-derived effect estimates and used logistic regression models adjusted for confounders. In the combined ethnic groups of IJ and PA, subtype-specific PRSs were significantly associated with the corresponding subtype, with a 1.69-fold, 2.21-fold and 2.26-fold risk for DLBCL, FL and MZL, respectively; however, these effect sizes were attenuated compared to those reported in EA and varied by ethnicity. In the GWAS of the combined ethnic groups, two novel SNPs in the 6p21.32 locus were associated with DLBCL risk. Additional GWAS studies are needed among Jewish and Arab populations to improve genetic risk prediction for NHL in these ethnic groups.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia. 青少年髓单细胞白血病的临床和分子特征。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-31 DOI: 10.1111/bjh.70106
Julia A Meyer, Sherin Xirenayi, Juwita Werner, Rust Turakulov, Aaron Hechmer, Zied Abdullaev, Nayera Hamdy, Adam Olshen, Elliot Stieglitz, Mahmoud Hammad, Alaa Elhaddad
{"title":"Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia.","authors":"Julia A Meyer, Sherin Xirenayi, Juwita Werner, Rust Turakulov, Aaron Hechmer, Zied Abdullaev, Nayera Hamdy, Adam Olshen, Elliot Stieglitz, Mahmoud Hammad, Alaa Elhaddad","doi":"10.1111/bjh.70106","DOIUrl":"https://doi.org/10.1111/bjh.70106","url":null,"abstract":"<p><p>Juvenile myelomonocytic leukaemia (JMML) is a rare haematological malignancy caused by mutations in the Ras signalling pathway. Next-generation sequencing (NGS) and DNA methylation profiling used for diagnostic and risk stratification purposes are now standard of care in Europe and the United States for patients with JMML. To better understand how implementing these types of technologies would impact the treatment of JMML patients in different settings, molecular profiling was performed on 81 patients treated for JMML in Egypt from 2009 to 2022. NGS increased the number of patients with a molecular diagnosis compared to conventional Sanger sequencing. NGS and DNA methylation analysis also identified patients with a higher risk for relapse based on the presence of multiple mutations or intermediate/high methylation respectively. Mutational burden, cytogenetics and methylation subgrouping were combined to develop a risk stratification model that may help to prioritize patients for haematopoietic stem cell transplantation. In summary, advanced molecular testing is key to enabling an accurate diagnosis and predicting outcome in JMML.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tandem combination of ASCT and CAR T-cell therapy in highly refractory CNS lymphomas. ASCT和CAR - t细胞串联联合治疗高度难治性中枢神经系统淋巴瘤。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-31 DOI: 10.1111/bjh.70132
Lydia Montes, Sylvain Choquet, Madalina Uzunov, Véronique Morel, Marine Baron, Damien Roos-Weil, Magalie Joris, Caroline Delette, Delphine Lebon, Nabih Azar, Carole Metz, Lucia Nichelli, Magali Le Garff-Tavernier, Clémentine Boccon-Gibod, Claire Lacan, Laetitia Souchet, Khê Hoang-Xuan, Carole Soussain, Inès Boussen, Caroline Houillier
{"title":"Tandem combination of ASCT and CAR T-cell therapy in highly refractory CNS lymphomas.","authors":"Lydia Montes, Sylvain Choquet, Madalina Uzunov, Véronique Morel, Marine Baron, Damien Roos-Weil, Magalie Joris, Caroline Delette, Delphine Lebon, Nabih Azar, Carole Metz, Lucia Nichelli, Magali Le Garff-Tavernier, Clémentine Boccon-Gibod, Claire Lacan, Laetitia Souchet, Khê Hoang-Xuan, Carole Soussain, Inès Boussen, Caroline Houillier","doi":"10.1111/bjh.70132","DOIUrl":"https://doi.org/10.1111/bjh.70132","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Towards a chemo-free approach for follicular lymphoma. 对滤泡性淋巴瘤的无化疗方法。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-30 DOI: 10.1111/bjh.70126
Stefano Luminari, Emiliano Barbieri, Maria Elena Nizzoli
{"title":"Towards a chemo-free approach for follicular lymphoma.","authors":"Stefano Luminari, Emiliano Barbieri, Maria Elena Nizzoli","doi":"10.1111/bjh.70126","DOIUrl":"https://doi.org/10.1111/bjh.70126","url":null,"abstract":"<p><p>The therapeutic landscape of follicular lymphoma (FL) is undergoing a transformative shift driven by the advent of novel chemo-free strategies that challenge the traditional chemo-oriented paradigms; this shift offers promising alternatives for both newly diagnosed and relapsed or refractory (RR) patients. Available data support a full chemo-free approach starting from second-line therapy, with rituximab-lenalidomide (R2) or tafasitamab-R2, whereas bispecific antibodies (bsAbs), Bruton's tyrosine kinase (BTK) inhibitors and chimeric antigen receptor (CAR) T-cell therapies are available options after second relapse. In the near future, bsAbs, mainly in combination with lenalidomide, will likely be employed as first- or second-line therapy, potentially fully replacing immunochemotherapy, whereas CAR T-cell therapy will play a role in selected high-risk patients. Given the different toxicity profiles of chemo-free options, refined prognostic scores are awaited so as to properly allocate patients to the most appropriate therapy with the best trade-off between efficacy and safety.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short-term risks and benefits of hydroxyurea (hydroxycarbamide)-induced transfusion independence in patients with beta-thalassaemia syndromes. 羟基脲(羟基脲)诱导β -地中海贫血综合征患者输血独立性的短期风险和益处。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-29 DOI: 10.1111/bjh.70109
B R Sevanthini, Santhosh Hegde, Tejashree Sridhar, Deepa Trivedi, Mohan Reddy, Vaibhav Shah, Vidhi Mayur Panchamia, T Geetha, Dharmik Vora, H Pushpa, Rajat Kumar Agarwal, Lawrence Faulkner
{"title":"Short-term risks and benefits of hydroxyurea (hydroxycarbamide)-induced transfusion independence in patients with beta-thalassaemia syndromes.","authors":"B R Sevanthini, Santhosh Hegde, Tejashree Sridhar, Deepa Trivedi, Mohan Reddy, Vaibhav Shah, Vidhi Mayur Panchamia, T Geetha, Dharmik Vora, H Pushpa, Rajat Kumar Agarwal, Lawrence Faulkner","doi":"10.1111/bjh.70109","DOIUrl":"https://doi.org/10.1111/bjh.70109","url":null,"abstract":"<p><p>Clinical outcomes of hydroxyurea (hydroxycarbamide)-induced transfusion independence in patients with β-thalassaemia syndromes.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Next-generation morphology, a novel multilayer morphometric digital analysis, reveals both the basic topology and new trends of myelodysplasia of peripheral blood specimens. 下一代形态学是一种新的多层形态学数字分析,揭示了外周血标本骨髓异常增生的基本拓扑结构和新趋势。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-29 DOI: 10.1111/bjh.70110
Ben-Zion Katz, Yakir Moshe, Dan Bensity, Efrat Luttwak, Merav Brazilai, Howard S Oster, Olga Pozdnyakova, Moshe Mittelman, Irit Avivi
{"title":"Next-generation morphology, a novel multilayer morphometric digital analysis, reveals both the basic topology and new trends of myelodysplasia of peripheral blood specimens.","authors":"Ben-Zion Katz, Yakir Moshe, Dan Bensity, Efrat Luttwak, Merav Brazilai, Howard S Oster, Olga Pozdnyakova, Moshe Mittelman, Irit Avivi","doi":"10.1111/bjh.70110","DOIUrl":"https://doi.org/10.1111/bjh.70110","url":null,"abstract":"<p><p>Traditional microscopy compromises between resolution and field of view, limiting its diagnostic sensitivity. We present here next-generation morphology (NGM), a novel five-layer analytical approach leveraging a physical solution that enables high-resolution, large-field digital imaging, data mining and analysis of blood specimens. To test NGM performance, peripheral blood smears (PBS) from 37 myelodysplastic syndrome (MDS) patients and 30 age-matched controls were analysed. PBS topology was mapped to identify regions optimal for analysis. Red blood cells (RBCs) displayed a gradient distribution with a narrow zone suitable for accurate morphological assessment. NGM facilitated direct morphometric measurements of individual red and white blood cells (RBCs and WBCs), which were correlated with clinical variables. Significant morphometric differences were found between MDS and controls, particularly in RBC size, shape and neutrophil granularity and subpopulations profile. WBC differentials based on 1000 WBC significantly elevated blasts detection compared to conventional 100-WBC counts. Multivariate analysis linked RBC morphometrics with high-risk MDS. In summary, NGM overcomes traditional microscopy limitations, offering high-resolution, large-field imaging for sensitive digital morphometry of PBS. This technology can enhance the detection and quantitative characterization of haematological abnormalities, thereby contributing to the understanding of MDS physiology, and may support early detection of dysplasia in PBS.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emerging role of G protein-coupled receptor class C group 5 member D-directed immunotherapy in multiple myeloma: Advances, resistance and combination strategies. G蛋白偶联受体C组5成员d定向免疫治疗在多发性骨髓瘤中的新作用:进展、耐药性和联合策略
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-29 DOI: 10.1111/bjh.70116
Xueting Wang, Yushan Cui, Yaomei Wang, Baijun Fang
{"title":"Emerging role of G protein-coupled receptor class C group 5 member D-directed immunotherapy in multiple myeloma: Advances, resistance and combination strategies.","authors":"Xueting Wang, Yushan Cui, Yaomei Wang, Baijun Fang","doi":"10.1111/bjh.70116","DOIUrl":"https://doi.org/10.1111/bjh.70116","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a clonal malignancy of plasma cells characterized by frequent relapse and therapeutic resistance. G protein-coupled receptor class C group 5 member D (GPRC5D) has emerged as a promising immunotherapeutic target due to its high and selective expression in MM cells and minimal presence in normal tissues. This review outlines the structural features and expression profile of GPRC5D, emphasizing its relevance to disease biology and prognosis. We highlight recent advances in GPRC5D-targeted therapies, including antibody-drug conjugates (ADCs), bispecific and trispecific antibodies and chimeric antigen receptor T (CAR T)/natural killer (NK)-cell therapies, all demonstrating encouraging efficacy in relapsed/refractory MM. Key challenges, such as antigen escape and the need for optimized combination strategies, are also discussed. As GPRC5D-targeted agents advance through clinical development, large-scale prospective trials will be essential to define their therapeutic positioning and improve patient outcomes. GPRC5D is poised to become a leading next-generation target in MM immunotherapy following B-cell maturation antigen.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outcomes following exposure to drug interactions with ibrutinib in patients with chronic lymphocytic leukaemia. 慢性淋巴细胞白血病患者暴露于与依鲁替尼药物相互作用后的结果。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-29 DOI: 10.1111/bjh.70131
Tuan Hoang, Matthew C Cheung, David N Juurlink, Kelvin K W Chan, Cindy Lau, Ning Liu, Husam Abdel-Qadir, Anca Prica, Annette E Hay, Abi Vijenthira, Lee Mozessohn
{"title":"Outcomes following exposure to drug interactions with ibrutinib in patients with chronic lymphocytic leukaemia.","authors":"Tuan Hoang, Matthew C Cheung, David N Juurlink, Kelvin K W Chan, Cindy Lau, Ning Liu, Husam Abdel-Qadir, Anca Prica, Annette E Hay, Abi Vijenthira, Lee Mozessohn","doi":"10.1111/bjh.70131","DOIUrl":"https://doi.org/10.1111/bjh.70131","url":null,"abstract":"<p><p>Ibrutinib is metabolized by cytochrome P450 3A (CYP3A) and poses challenges with drug interactions. We conducted a population-based cohort study of Ontario residents aged ≥66 years who initiated ibrutinib for chronic lymphocytic leukaemia (CLL) to evaluate the frequency of potential drug interactions involving moderate/strong CYP3A inhibitors and inducers and their association with overall survival (OS). Secondary analyses employed a nested case-control design examining hospitalizations for haemorrhage or infection as potential markers of ibrutinib toxicity. Among 642 ibrutinib recipients (median age 74 years, 34.4% female), 70 (10.9%) received a concomitant CYP3A inducer while 404 (62.9%) received a concomitant CYP3A inhibitor. In the primary analysis, we found no association between death (n = 162) and concurrent use of either moderate/strong CYP3A inducers or inhibitors. In secondary analyses, 86 patients (13.4%) were admitted to hospital for bleeding and 287 patients (44.7%) for infection. Receipt of moderate/strong CYP3A inhibitors was associated with an increased odds of hospitalization for infection (odds ratio 2.88, 95% confidence intervals [CI] 1.29-6.43) but not haemorrhage. Among older patients receiving ibrutinib for CLL, concomitant use of CYP3A-modulating drugs is common. We found no association between use of interacting drugs and OS, but CYP3A inhibitors were strongly associated with hospitalization for infection, underscoring the importance of pharmacovigilance.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A characteristic gene expression profile regulated by ACIN1::NUTM1 fusion in a newly identified infant leukaemic cell line and an ACIN1::NUTM1-inducible model. 在新发现的婴儿白血病细胞系和ACIN1::NUTM1诱导模型中,ACIN1::NUTM1融合调控的特征基因表达谱
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-08-29 DOI: 10.1111/bjh.70130
Minori Tamai, Chiaki Komatsu, Keiko Kagami, Shin Kasai, Atsushi Watanabe, Koshi Akahane, Kumiko Goi, Chihiro Tomoyasu, Toshihiko Imamura, Satoshi Oguri, Sumio Iwasaki, Takanori Teshima, Yasushi Yatabe, Takeshi Inukai
{"title":"A characteristic gene expression profile regulated by ACIN1::NUTM1 fusion in a newly identified infant leukaemic cell line and an ACIN1::NUTM1-inducible model.","authors":"Minori Tamai, Chiaki Komatsu, Keiko Kagami, Shin Kasai, Atsushi Watanabe, Koshi Akahane, Kumiko Goi, Chihiro Tomoyasu, Toshihiko Imamura, Satoshi Oguri, Sumio Iwasaki, Takanori Teshima, Yasushi Yatabe, Takeshi Inukai","doi":"10.1111/bjh.70130","DOIUrl":"https://doi.org/10.1111/bjh.70130","url":null,"abstract":"<p><p>NUTM1-rearranged (NUTM1-R) infant acute lymphoblastic leukaemia (ALL) is a newly identified subgroup of non-KMT2A-R infant ALL, with ACIN1::NUTM1 the most frequent fusion. KMT2A-R and NUTM1-R infant ALL are characterized by fewer copy number alterations. Moreover, the gene expression profile in NUTM1-R infant ALL characteristically reveals upregulation of the genes that are involved in KMT2A-R infant ALL development, including HOXA9 and HOXA10. However, the direct association of NUTM1-fusion with this gene expression remains unexplored. Clinically, in sharp contrast to KMT2A-R infant ALL, the prognosis of NUTM1-R infant ALL is excellent, although its drug sensitivity profile remains unclear. Here, we newly identified an ACIN1::NUTM1-positive ALL cell line, KOPN32, which was previously established from a relapsed infant-ALL case, as the only cell line with NUTM1-fusion. KOPN32 had fewer copy number alterations, like KMT2A-R ALL cell lines. Both KOPN32 and an ACIN1::NUTM1-inducible ALL model, which was established using the ACIN1::NUTM1 fusion cDNA subcloned from KOPN32, revealed upregulation of HOXA9, HOXA10, SKIDA1 and BMI1, indicating direct involvement of ACIN1::NUTM1 fusion in the upregulation of these genes. In the drug sensitivity to eight standard agents, KOPN32 showed high sensitivity to both daunorubicin and vincristine; both are crucial agents in the induction therapy for infant ALL.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","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:604180095
Book学术官方微信