British Journal of Haematology最新文献

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RETRACTION: P210 Bcr-abl Tyrosine Kinase Interaction with Histone Deacetylase 1 Modifies Histone H4 Acetylation and Chromatin Structure of Chronic Myeloid Leukaemia Haematopoietic Progenitors. P210 Bcr-abl酪氨酸激酶与组蛋白去乙酰化酶1的相互作用改变慢性髓系白血病造血祖细胞的组蛋白H4乙酰化和染色质结构。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-26 DOI: 10.1111/bjh.20188
{"title":"RETRACTION: P210 Bcr-abl Tyrosine Kinase Interaction with Histone Deacetylase 1 Modifies Histone H4 Acetylation and Chromatin Structure of Chronic Myeloid Leukaemia Haematopoietic Progenitors.","authors":"","doi":"10.1111/bjh.20188","DOIUrl":"https://doi.org/10.1111/bjh.20188","url":null,"abstract":"<p><strong>Retraction: </strong>G. Brusa, E. Zuffa, M. Mancini, M. Benvenuti, N. Calonghi, E. Barbieri, and M. A. Santucci, \"P210 Bcr-abl Tyrosine Kinase Interaction with Histone Deacetylase 1 Modifies Histone H4 Acetylation and Chromatin Structure of Chronic Myeloid Leukaemia Haematopoietic Progenitors,\" British Journal of Haematology 132, no. 3 (2006): 359-369, https://doi.org/10.1111/j.1365-2141.2005.05873.x. The above article, published online on 29 November 2005 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the journal Editor-in-Chief Andrew Evans; the British Society for Haematology; and John Wiley & Sons Ltd. A third party notified the journal that they had found evidence of image manipulation and duplication within Figures 4, and 5. The third party also reported that bands in Figure 4 of this article had been reused in 2 other articles by some of the same authors (Mancini et al. 2007 [https://doi.org/10.1016/j.leukres.2006.09.022] and Mancini et al. 2008 [https://doi.org/10.1111/j.1365-2141.2008.07134.x]). An investigation by the publisher confirmed that two Histone H1 bands in Figure 4 had been duplicated, 2 Histone H4 bands in Figure 5B had been duplicated, and that the bcr-abl bands in Figure 5B had been spliced and potentially duplicated. The investigation also confirmed that bands had been reused in other articles by the same authors, each of which describes different experimental conditions. Authors M. Mancini and N. Calonghi responded to an inquiry by the publisher, but due to the length of time since publication they were not able to provide an explanation for the evidence of image manipulation or the original data. The authors did not respond to our notice regarding the retraction.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141154","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
Survival and thalassaemia-related complications in HbE/beta-thalassaemia and alpha-thalassaemia: A 10-year longitudinal study in Thailand. HbE/ β -地中海贫血和α -地中海贫血患者的生存和地中海贫血相关并发症:泰国一项为期10年的纵向研究
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-26 DOI: 10.1111/bjh.20179
Nattiya Teawtrakul, Arunee Jetsrisuparb, Saranya Pongudom, Kanchana Chansung, Chittima Sirijerachai, Supan Fucharoen
{"title":"Survival and thalassaemia-related complications in HbE/beta-thalassaemia and alpha-thalassaemia: A 10-year longitudinal study in Thailand.","authors":"Nattiya Teawtrakul, Arunee Jetsrisuparb, Saranya Pongudom, Kanchana Chansung, Chittima Sirijerachai, Supan Fucharoen","doi":"10.1111/bjh.20179","DOIUrl":"https://doi.org/10.1111/bjh.20179","url":null,"abstract":"<p><p>Despite advancements in thalassaemia care, survival rates and complications vary significantly by genotype. This study assesses survival outcomes and associated complications in patients with thalassaemia in north-eastern Thailand. A longitudinal cohort study from October 2012 to September 2023 involved patients aged ≥10 years (median: 31 years, range: 20-74) attending Srinagarind and Udonthani Hospitals. Cox regression analyses identified predictors of survival and complications. Of 380 enrolled patients, 340 completed follow-up. Over 10 years, 39 patients (11.4%) died, primarily from cardiovascular complications (61.5%), at a median age of 45 years (range: 22-72). Patients were grouped as HbE/β-thalassaemia, HbH/HbHCS with HbE mutation and HbH/HbHCS. Survival at 60 years was lower in HbE/β-thalassaemia (55.9%) and HbH/HbHCS with HbE mutation (58.3%) compared to HbH/HbHCS (79.6%, p = 0.08). Significant predictors of mortality included cardiovascular complications (HR 2.4; 95% CI, 1.01-5.5; p = 0.04), recurrent bacterial infections (HR 7.6; 95% CI, 3.1-18.8; p < 0.001) and elevated ferritin (>2500 ng/mL; HR 2.0; 95% CI, 1.01-3.9; p = 0.04). Cardiovascular complications, recurrent bacterial infections and high ferritin levels significantly influence survival in thalassaemia patients. Deletional alpha-thalassaemia patients had superior survival, while HbE/β-thalassaemia and non-deletional alpha-thalassaemia or co-inherited HbE mutation had poorer outcomes, underscoring the need for genotype-specific management strategies.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148975","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
Comparability of external and internal control patients for the prospective randomized HOVON-103 trial in older AML patients. 老年AML患者前瞻性随机HOVON-103试验外部和内部对照患者的可比性
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-26 DOI: 10.1111/bjh.20185
Sjoerd J F Hermans, Jurjen Versluis, Erik D van Werkhoven, Yvette van Norden, Jeroen J W M Janssen, Gerwin A Huls, Thomas Pabst, Dimitri A Breems, Elizabeth Berkx, Avinash G Dinmohamed, Peter C Huijgens, Eric Sträng, Jesús María Hernández Rivas, Marta Sobas, Rosa Ayala Diaz, Joaquin Martinez Lopez, Klaus H Metzeler, Torsten Haferlach, Christian Thiede, Carin A Uyl-de Groot, Lars Bullinger, Bob Löwenberg, Gert J Ossenkoppele, Francesco Pignatti, Jan J Cornelissen
{"title":"Comparability of external and internal control patients for the prospective randomized HOVON-103 trial in older AML patients.","authors":"Sjoerd J F Hermans, Jurjen Versluis, Erik D van Werkhoven, Yvette van Norden, Jeroen J W M Janssen, Gerwin A Huls, Thomas Pabst, Dimitri A Breems, Elizabeth Berkx, Avinash G Dinmohamed, Peter C Huijgens, Eric Sträng, Jesús María Hernández Rivas, Marta Sobas, Rosa Ayala Diaz, Joaquin Martinez Lopez, Klaus H Metzeler, Torsten Haferlach, Christian Thiede, Carin A Uyl-de Groot, Lars Bullinger, Bob Löwenberg, Gert J Ossenkoppele, Francesco Pignatti, Jan J Cornelissen","doi":"10.1111/bjh.20185","DOIUrl":"https://doi.org/10.1111/bjh.20185","url":null,"abstract":"<p><p>Real-world data (RWD) previously contributed to post-marketing regulatory decision-making, but are currently also considered as external controls to single-arm trials. The use of RWD control data may be compromised by methodological issues, urging validation of RWD control cohorts. Two external control cohorts of newly diagnosed acute myeloid leukaemia patients, one registered by the HARMONY Alliance (HA) and one by the Netherlands Cancer Registry (NCR), were compared to the control arm of the randomized HOVON-103 trial (H103 controls). All patients, aged >65 years with a WHO performance score of 0-2 (or missing), received standard induction chemotherapy. 1:1 propensity score calliper matching (PSM) was applied to improve comparability, and overall (OS) and relapse-free survival (RFS) were assessed. Fewer data elements were available in external cohorts compared to H103 controls, specifically in the NCR cohort. Baseline characteristics of the external cohorts differed from H103 controls; missing data were also more frequent and predominantly concerned WHO performance score. After PSM, HA patients demonstrated non-significantly different OS and RFS to H103 controls at 2 years (26 ± 4% vs. 31 ± 5%, p = 0.59; 24 ± 5% vs. 30 ± 6%, p = 0.52), while NCR patients had 12% lower OS (28 ± 4% vs. 40 ± 4%, p = 0.21). Validation of external control cohorts is needed before incorporating RWD control data into comparative analyses, as missing data, specifically comorbidities, and residual confounding may limit comparability.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148898","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
The role of PET/CT in peripheral T-cell lymphoma: Results from the PET/CT substudy of the UK NCRI phase 2 CHEMO-T trial. PET/CT在外周t细胞淋巴瘤中的作用:来自英国NCRI二期化疗- t试验的PET/CT亚研究结果
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-26 DOI: 10.1111/bjh.20160
M Gleeson, C Gonzalez Arias, D Cunningham, C Peckitt, K Thomas, Y Du, N Hujairi, Y M To, H C Chen, S Patel, I Chau, P Johnson, A Wotherspoon, A D Attygalle, E A Hawkes, M P Macheta, G P Collins, K Cwynarski, S Chua
{"title":"The role of PET/CT in peripheral T-cell lymphoma: Results from the PET/CT substudy of the UK NCRI phase 2 CHEMO-T trial.","authors":"M Gleeson, C Gonzalez Arias, D Cunningham, C Peckitt, K Thomas, Y Du, N Hujairi, Y M To, H C Chen, S Patel, I Chau, P Johnson, A Wotherspoon, A D Attygalle, E A Hawkes, M P Macheta, G P Collins, K Cwynarski, S Chua","doi":"10.1111/bjh.20160","DOIUrl":"https://doi.org/10.1111/bjh.20160","url":null,"abstract":"<p><p>The UK National Cancer Research Institute (NCRI) phase 2 randomised CHOP versus GEM-P in previously untreated patients with peripheral T-cell lymphoma (CHEMO-T) trial compared the regimens of cyclophosphamide, doxorubicin, vincristine and prednisolone (CHOP) and gemcitabine, cisplatin and methylprednisolone (GEM-P) in treatment-naïve patients with peripheral T-cell lymphoma (PTCL). Evaluation of the role of positron emission tomography/computed tomography (PET/CT) was a key secondary end-point. All patients required PET/CT, contrast-enhanced CT (CECT) and bone marrow biopsy (BMB) at enrolment and end of treatment (EOT). Baseline (BL) data for PET/CT (<sub>BL</sub>PET/CT), CECT and BMB were compared. Response by CECT and PET/CT was correlated with outcomes. <sub>BL</sub>PET/CT data were available for 82/84; 98% (80/82) had FDG-avid disease. <sub>BL</sub>PET/CT altered disease stage in 43% and identified additional extranodal sites (most frequently bone marrow/bone n = 7) in 25% versus CECT. Concordance of <sub>BL</sub>PET/CT with BMB for marrow involvement was 72.6%, with discordant results for n = 20. Ten patients with biopsy-proven marrow infiltration had a PET/CT-negative marrow. However, <sub>BL</sub>PET/CT detected marrow involvement in patients with a negative BMB (n = 10), predominantly cases with focal uptake (7/10). At EOT, a negative PET/CT (vs. positive) was associated with superior 2-year progression-free survival (PFS) of 55% (95% CI: 38%-70%) versus 29% (95% CI: 12%-48%) [HR 0.45 (95% CI: 0.23-0.88), p = 0.021], respectively, which remained independently prognostic. Our findings indicate that PET/CT should be incorporated as a standard of care in the management of PTCL.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148980","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
Prognostic value of CEBPA bZIP signatures in cytogenetically normal acute myeloid leukaemia. CEBPA bZIP标记在细胞遗传学正常的急性髓性白血病中的预后价值。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-26 DOI: 10.1111/bjh.20164
Li-Xin Wu, Ming-Yue Liao, Ming-Yue Zhao, Nan Yan, Ping Zhang, Li-Xia Liu, Jia-Yue Qin, Shan-Bo Cao, Jia Feng, Qian Jiang, Ying-Jun Chang, Lan-Ping Xu, Xiao-Hui Zhang, Xiao-Jun Huang, Hao Jiang, Hong-Yu Zhang, Guo-Rui Ruan
{"title":"Prognostic value of CEBPA bZIP signatures in cytogenetically normal acute myeloid leukaemia.","authors":"Li-Xin Wu, Ming-Yue Liao, Ming-Yue Zhao, Nan Yan, Ping Zhang, Li-Xia Liu, Jia-Yue Qin, Shan-Bo Cao, Jia Feng, Qian Jiang, Ying-Jun Chang, Lan-Ping Xu, Xiao-Hui Zhang, Xiao-Jun Huang, Hao Jiang, Hong-Yu Zhang, Guo-Rui Ruan","doi":"10.1111/bjh.20164","DOIUrl":"https://doi.org/10.1111/bjh.20164","url":null,"abstract":"<p><p>Recent studies revealed that CEBPA with basic leucine zipper (bZIP) in-frame mutation (CEBPA<sup>bZIP-inf</sup>) is the bona fide entity with a favourable prognosis in acute myeloid leukaemia. However, the mechanism by which the bZIP signatures influence risk stratification remains unclear. We identified 141 patients with CEBPA<sup>bZIP-inf</sup>. Variant allele fraction (VAF) (cumulative incidence of relapse [CIR], VAF<sup>high</sup> vs. VAF<sup>low</sup>, 74.0% vs. 27.0%, p < 0.001) and base change (≤ vs. >3 bases, 39.1% vs. 60.6%, p = 0.042) of bZIP mutations were associated with CIR. These two factors, along with the white blood cell count and measurable residual disease after first consolidation, could stratify patients into three risk subgroups (CIR, low vs. medium vs. high risk, 15.2% vs. 47.1% vs. 83.0%, p < 0.001). Compared with no transplantation, receiving a transplantation significantly decreased the relapse rates in medium-risk (transplantation vs. no transplantation, 11.6% vs. 49.7%, p = 0.009) and high-risk patients (5.6% vs. 84.1%, p < 0.001) but not low-risk (0% vs. 15.2%, p = 0.220). However, only high-risk patients could benefit from transplantation in terms of overall survival (100% vs. 59.7%, p = 0.003). Our study revealed the heterogeneity of CEBPA<sup>bZIP-inf</sup> patients and suggested a risk-adapted treatment modality. Transplantation is recommended for high-risk patients and consolidation chemotherapy is recommended for low-risk and medium-risk patients.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148910","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
Monoclonal immunoglobulin measurement by mass spectrometry in patients with multiple myeloma and kidney failure: Analysis from the EuLITE trial. 多发性骨髓瘤和肾衰竭患者的单克隆免疫球蛋白质谱测定:来自EuLITE试验的分析
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-25 DOI: 10.1111/bjh.20168
Graham McIlroy, Hannah V Giles, Amy Rollins, Gemma Malin, Libby Jones, Nicola J Wright, Oscar Berlanga, Simon North, Mark Cook, Colin Hutchison, Nils Heyne, Katja Weisel, Jennifer Pinney, Stephen Harding, Paul Cockwell, Guy Pratt
{"title":"Monoclonal immunoglobulin measurement by mass spectrometry in patients with multiple myeloma and kidney failure: Analysis from the EuLITE trial.","authors":"Graham McIlroy, Hannah V Giles, Amy Rollins, Gemma Malin, Libby Jones, Nicola J Wright, Oscar Berlanga, Simon North, Mark Cook, Colin Hutchison, Nils Heyne, Katja Weisel, Jennifer Pinney, Stephen Harding, Paul Cockwell, Guy Pratt","doi":"10.1111/bjh.20168","DOIUrl":"https://doi.org/10.1111/bjh.20168","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141121","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
Real-world assessment of acute red cell exchange for stroke in sickle cell disease. 镰状细胞病卒中急性红细胞交换的真实世界评估。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-25 DOI: 10.1111/bjh.20170
Samuel R Wilson, Denis Noubouossie, Jane A Little, Matthew S Karafin
{"title":"Real-world assessment of acute red cell exchange for stroke in sickle cell disease.","authors":"Samuel R Wilson, Denis Noubouossie, Jane A Little, Matthew S Karafin","doi":"10.1111/bjh.20170","DOIUrl":"https://doi.org/10.1111/bjh.20170","url":null,"abstract":"<p><p>Cerebrovascular accidents (CVA) are one of the most devastating complications in sickle cell disease (SCD). Chronic transfusion therapy has been established for primary and secondary prevention of CVA in SCD, resulting in a notable reduction in CVA incidence. For individuals with SCD presenting with CVA, the impact of acute management on neurological outcomes is not well studied. Herein, we examine the neurological outcomes of 29 children and adults with SCD who received acute red cell exchange (RCE) as primary therapy for neurological events at a single institution. Twelve (41%) individuals had a prior history of CVA, and 12 (41%) were on chronic transfusions. Among 13 adults, 3 (23%) had a history of diabetes and 4 (31%) had a history of hypertension. One adult (7.7%) received thrombolytic therapy; the remainder were ineligible due to age, timing of presentation, intracranial haemorrhage or transient symptoms. Higher post-RCE haematocrit was associated with decreased odds of death or persistent neurological symptoms at hospital discharge (OR 0.69, 95% CI: 0.45-0.94, p = 0.017). Optimal acute management of adults living with SCD presenting with CVA remains an understudied yet important topic. Future prospective studies may determine how best to tailor acute management to improve neurological outcomes.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141147","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
Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population. 绘制英国与vexas相关的罕见UBA1变异:来自患者队列和普通人群的见解
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-25 DOI: 10.1111/bjh.20176
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al-Hakim, Kar Lok Kong, David G Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic
{"title":"Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.","authors":"Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al-Hakim, Kar Lok Kong, David G Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic","doi":"10.1111/bjh.20176","DOIUrl":"https://doi.org/10.1111/bjh.20176","url":null,"abstract":"<p><p>Somatic mutations in UBA1 are linked to VEXAS syndrome, a late-onset inflammatory disorder with rheumatological and haematological features, primarily affecting elderly men. This study examines the epidemiology of VEXAS in the United Kingdom using genomic databases and patient cohorts to estimate prevalence, identify novel UBA1 variants and predict their pathogenicity. Analysing data from the UK Biobank, 100 000 Genomes Project and clinical diagnostic laboratories, we found that VEXAS prevalence in UK males over 50 is lower than in US-based cohorts. Notably, canonical (Met41) UBA1 mutations appear in ~1% of individuals with autoinflammatory disorders who have not been referred to haematology. However, among those investigated for myeloid malignancies, VEXAS is relatively common, with an estimated incidence of 1.51 per 100 000, or 171 new cases each year. We identified 47 UBA1 non-Met41 variants of uncertain significance, with several showing clonal dominance and clustering in functional domains, suggesting potential pathogenicity. Clinical presentation associated with non-Met41 variants often diverged from classical VEXAS features, underscoring the need for further studies. Our findings highlight the importance of broader screening for both canonical and non-canonical UBA1 mutations to improve understanding of VEXAS syndrome and its underlying mechanisms.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141107","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
CD19+IL-10+ regulatory B cells induced by IL-12p35 regulates functional T-cell subsets in patients with immune thrombocytopenia. IL-12p35诱导的CD19+IL-10+调节性B细胞调节免疫性血小板减少症患者的功能性t细胞亚群
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-25 DOI: 10.1111/bjh.20173
Fanli Hua, Lihua Sun, Yang Li, Yahong Meng, Xiaohong Fan, Xuelian Wang, Yan Lu, Yunfeng Cheng, Feng Li
{"title":"CD19<sup>+</sup>IL-10<sup>+</sup> regulatory B cells induced by IL-12p35 regulates functional T-cell subsets in patients with immune thrombocytopenia.","authors":"Fanli Hua, Lihua Sun, Yang Li, Yahong Meng, Xiaohong Fan, Xuelian Wang, Yan Lu, Yunfeng Cheng, Feng Li","doi":"10.1111/bjh.20173","DOIUrl":"https://doi.org/10.1111/bjh.20173","url":null,"abstract":"<p><p>Primary immune thrombocytopenia (ITP) is a condition characterized by immune-mediated platelet loss due to excessive destruction and/or insufficient production. IL-12p35 is involved in autoimmune uveitis; however, its role in ITP remains unknown. In the study, CD19<sup>+</sup> B and CD4<sup>+</sup> T cells were isolated from peripheral blood mononuclear cells (PBMCs) of patients with ITP and healthy individuals. CD4<sup>+</sup>CD25<sup>-</sup> T cells were cocultured with the CD19<sup>+</sup> B cells treated with anti-IL-12p35 antibody or IL-12p35 recombinant protein. The impact of IL-12p35 on CD19<sup>+</sup> B cells was assessed by enzyme-linked immunosorbent assay, Western blotting, quantitative real-time PCR and flow cytometry. PBMCs from patients with ITP showed lower proportions of IL-10<sup>+</sup>CD19<sup>+</sup> B cells and decreased mRNA levels of IL-12p35-coding gene IL12A than those from healthy individuals. Anti-IL-12p35 antibody-treated CD19<sup>+</sup> B cells could reduce the population of IL-10<sup>+</sup> in CD19<sup>+</sup> B cells and regulate the differentiation of CD4<sup>+</sup>CD25<sup>-</sup> T cells, while recombinant IL-12p35 demonstrated the opposite effects. Moreover, the increased IL-10<sup>+</sup> B-cell population and HIF-1α expression in CD19<sup>+</sup> B cells induced by recombinant IL-12p35 were reversed by HIF-1α and JAK2/STAT3 inhibitors. In conclusion, CD19<sup>+</sup>IL-10<sup>+</sup> B cells induced by IL-12p35 regulate CD4<sup>+</sup> T-cell subsets in patients with ITP via the JAK2/STAT3/HIF-1α signalling pathway.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141097","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
Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B-cell lymphoma of the central nervous system. 数字液滴聚合酶链反应检测脑脊液MYD88 p.L265P对中枢神经系统原发性大b细胞淋巴瘤综合诊断的价值
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-05-25 DOI: 10.1111/bjh.20167
Vincent Harlay, Catherine Gallardo, Nathalie Beaufils, Alexandre Astier, Benoit Testud, Amira Amri, Shirley Fritz, Norman Abbou, Philippe Robert, Jeremy Garcia, Patrice Roll, L'houcine Ouafik, Laurence Schenone, Gregorio Petrirena, Alexandre Bertucci, Céline Bequet, Olivier Chinot, Emeline Tabouret, Isabelle Nanni, Romain Appay, Elise Kaspi, Diane Frankel
{"title":"Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B-cell lymphoma of the central nervous system.","authors":"Vincent Harlay, Catherine Gallardo, Nathalie Beaufils, Alexandre Astier, Benoit Testud, Amira Amri, Shirley Fritz, Norman Abbou, Philippe Robert, Jeremy Garcia, Patrice Roll, L'houcine Ouafik, Laurence Schenone, Gregorio Petrirena, Alexandre Bertucci, Céline Bequet, Olivier Chinot, Emeline Tabouret, Isabelle Nanni, Romain Appay, Elise Kaspi, Diane Frankel","doi":"10.1111/bjh.20167","DOIUrl":"https://doi.org/10.1111/bjh.20167","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141103","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
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