British Journal of Haematology最新文献

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Germline mosaicism in a family affected by Diamond-Blackfan anaemia. Diamond-Blackfan贫血家族的种系嵌合现象。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-21 DOI: 10.1111/bjh.70173
Eoghan Dunlea, Sally Ann Lynch, Daniel Angelov, Melanie Cotter
{"title":"Germline mosaicism in a family affected by Diamond-Blackfan anaemia.","authors":"Eoghan Dunlea, Sally Ann Lynch, Daniel Angelov, Melanie Cotter","doi":"10.1111/bjh.70173","DOIUrl":"https://doi.org/10.1111/bjh.70173","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145111489","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
Comprehensive analysis of 177Lu-lilotomab satetraxetan in lymphoma cell lines: Implications for precision radioimmunotherapy and combination schemes. 177Lu-lilotomab satetraxetan在淋巴瘤细胞系中的综合分析:对精确放射免疫治疗和联合方案的意义。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-18 DOI: 10.1111/bjh.70143
Sebastian Patzke, Luciano Cascione, Katrine B Melhus, Nicolas Munz, Alberto J Arribas, Eugenio Gaudio, Roman Generalov, Ada H V Repetto-Llamazares, Jostein Dahle, Francesco Bertoni
{"title":"Comprehensive analysis of <sup>177</sup>Lu-lilotomab satetraxetan in lymphoma cell lines: Implications for precision radioimmunotherapy and combination schemes.","authors":"Sebastian Patzke, Luciano Cascione, Katrine B Melhus, Nicolas Munz, Alberto J Arribas, Eugenio Gaudio, Roman Generalov, Ada H V Repetto-Llamazares, Jostein Dahle, Francesco Bertoni","doi":"10.1111/bjh.70143","DOIUrl":"https://doi.org/10.1111/bjh.70143","url":null,"abstract":"<p><p><sup>177</sup>Lu-lilotomab satetraxetan (Betalutin) is an anti-CD37 radioimmunoconjugate evaluated as a single administration therapy for the treatment of patients with relapsed/refractory follicular lymphoma or diffuse large B-cell lymphoma (DLBCL). <sup>177</sup>Lu-lilotomab satetraxetan treatment is well tolerated and shows consistent activity in most of the patients evaluated so far. Herein, we investigated the activity of <sup>177</sup>Lu-lilotomab satetraxetan in a panel of 55 lymphoma cell lines of B- and T-cell origin. CD37-targeted radioimmunotherapy was more effective in CD37-positive B-cell lymphomas (n = 46) than in CD37-negative T-cell lymphomas (n = 9). Focusing on DLBCL cell lines, mutations such as BCL2 or MYC translocations were not correlated to sensitivity. However, BCL2 expression was higher in resistant than in sensitive GCB-DLBCL cell lines, and the addition of the BCL2 inhibitor venetoclax showed synergism when added to the radioimmunoconjugate. Finally, the pattern of activity of <sup>177</sup>Lu-lilotomab satetraxetan differed from what was achieved with a CD37-targeting antibody-drug conjugate or with Rituximab cyclophosphamide hydroxydaunorubicin (doxorubicin) oncovin prednisone (R-CHOP), indicating the potential benefit of the beta-emitter payload. This systematic analysis of the responsiveness of lymphoma cell lines to CD37-targeting radioimmunotherapy consolidated <sup>177</sup>Lu-lilotomab satetraxetan as a promising compound for the treatment of CD37-positive malignancies and identified candidate biomarkers and co-targets to detect and overcome cancer cell-intrinsic resistance mechanisms.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084817","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
Can we move beyond myeloablative conditioning (MAC)? A comparison of MAC versus reduced intensity conditioning (RIC) in patients aged younger than 65 years undergoing allogeneic haematopoietic cell transplantation using ATG-PTCy-CSA for GVHD prophylaxis. 我们能超越清髓条件反射(MAC)吗?年龄小于65岁接受同种异体造血细胞移植使用atg - pcy - csa预防GVHD的患者的MAC与降低强度调节(RIC)的比较
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-18 DOI: 10.1111/bjh.70170
Ruah Alyamany, Ahmed Alnughmush, Mats Remberger, Arjun Datt Law, Wilson Lam, Dennis Dong Hwan Kim, Fotios V Michelis, Ivan Pasic, Igor Novitzky-Basso, Armin Gerbitz, Rajat Kumar, Jonas Mattsson, Auro Viswabandya
{"title":"Can we move beyond myeloablative conditioning (MAC)? A comparison of MAC versus reduced intensity conditioning (RIC) in patients aged younger than 65 years undergoing allogeneic haematopoietic cell transplantation using ATG-PTCy-CSA for GVHD prophylaxis.","authors":"Ruah Alyamany, Ahmed Alnughmush, Mats Remberger, Arjun Datt Law, Wilson Lam, Dennis Dong Hwan Kim, Fotios V Michelis, Ivan Pasic, Igor Novitzky-Basso, Armin Gerbitz, Rajat Kumar, Jonas Mattsson, Auro Viswabandya","doi":"10.1111/bjh.70170","DOIUrl":"https://doi.org/10.1111/bjh.70170","url":null,"abstract":"<p><p>Allogeneic haematopoietic cell transplantation (HCT) offers a curative option for numerous haematological disorders; however, its myeloablative conditioning (MAC) regimens are associated with substantial toxicity. Reduced intensity conditioning (RIC) regimens were developed to mitigate transplant-related toxicity and broaden eligibility-particularly for older or medically unfit patients-though their use in younger, fit patients remains debated. In this retrospective study, we compared outcomes between MAC and RIC in patients aged younger than 65 years undergoing allogeneic HCT with a unified graft-versus-host disease (GVHD) prophylaxis regimen comprising anti-thymocyte globulin (ATG), post-transplant cyclophosphamide (PTCy) and ciclosporin (CsA). Propensity score matching was applied to reduce confounding. At 2 years post-transplant, there were no statistically significant differences in overall survival (OS) between the groups (MAC: 68.6% vs. RIC: 65.9%; p = 0.61) or in non-relapse mortality (NRM) (MAC: 15.8% vs. RIC: 12.5%; p = 0.26). However, relapse incidence was significantly higher in the RIC group (27.0%) than in the MAC group (16.1%; p = 0.01). These findings reinforce the continued relevance of MAC in younger patients who are candidates for intensive therapy, as it appears to offer superior disease control without a concomitant increase in NRM. Prospective studies are warranted to further delineate the role of conditioning intensity in the context of contemporary GVHD prophylaxis.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084835","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
Myocardial work indices in the short-term prognosis of light-chain cardiac amyloidosis: Incremental value beyond traditional staging models and echocardiographic parameters. 心肌工作指标在轻链心肌淀粉样变短期预后中的价值:超越传统分期模型和超声心动图参数的增量价值。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-18 DOI: 10.1111/bjh.70122
Fangmin Meng, Jing Li, Rui Zhao, Yuanfeng Wu, Yu Liu, Yiming Yang, Yang Yang, Nianwei Zhou, Lili Dong, Dehong Kong, Haiyan Chen, Xianhong Shu, Peng Liu, Cuizhen Pan
{"title":"Myocardial work indices in the short-term prognosis of light-chain cardiac amyloidosis: Incremental value beyond traditional staging models and echocardiographic parameters.","authors":"Fangmin Meng, Jing Li, Rui Zhao, Yuanfeng Wu, Yu Liu, Yiming Yang, Yang Yang, Nianwei Zhou, Lili Dong, Dehong Kong, Haiyan Chen, Xianhong Shu, Peng Liu, Cuizhen Pan","doi":"10.1111/bjh.70122","DOIUrl":"https://doi.org/10.1111/bjh.70122","url":null,"abstract":"<p><p>Light-chain cardiac amyloidosis (AL-CA) causes structural and functional cardiac impairment. Myocardial work (MW), integrating left ventricular strain with afterload, may improve risk stratification. This study assesses the prognostic value of MW in AL-CA patients and its potential to enhance traditional staging models. We prospectively enrolled biopsy-confirmed AL-CA patients between 2022 and 2024. MW indices, including global work index (GWI) and global constructive work (GCW), were derived using EchoPAC 206. The primary outcome was all-cause mortality. Among 96 AL-CA patients (mean age: 62.8 ± 10.2 years; 70% male), 28 died during a median follow-up of 190 days. Multivariate Cox analysis identified GWI and GCW as independent predictors of mortality after adjusting for creatinine, heart rate, New York Heart Association class, Mayo 2012 class and pleural effusion. Kaplan-Meier analysis showed worse survival for GWI ≤840 mmHg% or GCW ≤1031 mmHg%. The likelihood ratio χ<sup>2</sup> test demonstrated that GWI and GCW significantly improved the predictive power of the Mayo 2012 and Euro 2015 models (p < 0.001). MW indices, particularly GWI and GCW, are independent predictors of short-term mortality in AL-CA patients, thereby improving existing risk models and providing valuable prognostic insights.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084829","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
Weekly dosing schedule of brentuximab vedotin is well tolerated in mycosis fungoides/Sézary syndrome. 布伦妥昔单抗维多汀在蕈样真菌病/ ssamzary综合征中具有良好的耐受性。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-18 DOI: 10.1111/bjh.70147
Megan Lee, Molly Schiffer, Iris Isufi, Scott F Huntington, Mina L Xu, Tarsheen Sethi, Shalin K Kothari, Michael Girardi, Francine M Foss
{"title":"Weekly dosing schedule of brentuximab vedotin is well tolerated in mycosis fungoides/Sézary syndrome.","authors":"Megan Lee, Molly Schiffer, Iris Isufi, Scott F Huntington, Mina L Xu, Tarsheen Sethi, Shalin K Kothari, Michael Girardi, Francine M Foss","doi":"10.1111/bjh.70147","DOIUrl":"https://doi.org/10.1111/bjh.70147","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084873","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 features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma. 中国儿童t细胞淋巴母细胞淋巴瘤的临床特征、突变特征及其对预后的影响。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-16 DOI: 10.1111/bjh.70097
Yang Li, Ling Jin, Wei Liu, Ying Liu, Keyan Yang, Yueping Jia, Xiaomei Yang, Yunpeng Dai, Lihua Yang, Rong Liu, Lian Jiang, Mincui Zheng, Jinzhong Xu, Ansheng Liu, Lirong Sun, Hui Gao, Runming Jin, Qinlong Zheng, Yonghong Zhang
{"title":"Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.","authors":"Yang Li, Ling Jin, Wei Liu, Ying Liu, Keyan Yang, Yueping Jia, Xiaomei Yang, Yunpeng Dai, Lihua Yang, Rong Liu, Lian Jiang, Mincui Zheng, Jinzhong Xu, Ansheng Liu, Lirong Sun, Hui Gao, Runming Jin, Qinlong Zheng, Yonghong Zhang","doi":"10.1111/bjh.70097","DOIUrl":"https://doi.org/10.1111/bjh.70097","url":null,"abstract":"<p><p>T-cell lymphoblastic lymphoma (T-LBL) is an aggressive lymphoma that primarily affects children and young adults, and a comprehensive understanding of its molecular features is crucial for improving patient outcomes. In this study, 552 patients were included, with targeted next-generation sequencing of 262 lymphoma-associated genes performed on tumour samples from 119 patients. The associations between mutations and survival rates, as well as relapse and other clinical factors, were analysed. The results demonstrated that pleural effusion (PE) invasion was significantly associated with adverse event-free survival (EFS) and overall survival (OS) (p < 0.05). Additionally, we identified 92 genes with recurrent mutations, among which NOTCH1 (44%), FBXW7 (28%), PHF6 (11%), KRAS (10%) and NRAS (10%) were the most frequently altered. Patients with NOTCH1 mutations exhibited improved EFS and OS (p < 0.01), whereas those carrying CREBBP, PTEN and LYST mutations exhibited worse prognosis (p < 0.05). In conclusion, NOTCH1 mutations are associated with a favourable prognosis in paediatric T-LBL, while CREBBP, PTEN and LYST mutations, as well as PE invasion, are linked to poor prognosis. This study identifies key molecular and clinical factors in paediatric T-LBL progression, aiding high-risk patient identification and personalized treatment strategies.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074127","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
Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia. 日本先天性血小板减少症ANKRD26变异的差异转录水平和临床表型
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-15 DOI: 10.1111/bjh.70169
Atsushi Sakamoto, Toru Uchiyama, Kazuhiko Nakabayashi, Akira Shimada, Hidemi Shimonodan, Hitomi Kojima, Masaki Yamamoto, Dai Keino, Tadashi Anan, Kozue Nakamura, Atsushi Sato, Osamu Ohara, Tadashi Kaname, Toru Yasuda, Akihiro Iguchi, Shuichi Ito, Shinji Kunishima, Akira Ishiguro
{"title":"Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia.","authors":"Atsushi Sakamoto, Toru Uchiyama, Kazuhiko Nakabayashi, Akira Shimada, Hidemi Shimonodan, Hitomi Kojima, Masaki Yamamoto, Dai Keino, Tadashi Anan, Kozue Nakamura, Atsushi Sato, Osamu Ohara, Tadashi Kaname, Toru Yasuda, Akihiro Iguchi, Shuichi Ito, Shinji Kunishima, Akira Ishiguro","doi":"10.1111/bjh.70169","DOIUrl":"https://doi.org/10.1111/bjh.70169","url":null,"abstract":"<p><p>Ankyrin repeat domain 26 (ANKRD26)-related thrombocytopenia (ANKRD26-RT) is an autosomal dominant disorder caused by variants in the 5'-untranslated region of the ANKRD26 gene, leading to its overexpression and impaired megakaryocyte maturation. We identified a novel ANKRD26 variant (c.-129_-112del) and investigated its transcriptional impact, platelet function, and haematopoietic effects. We analysed ANKRD26 transcription in megakaryocytes derived from 21 ANKRD26-RT patients using quantitative reverse transcription droplet digital polymerase chain reaction (PCR). Furthermore, platelet function, megakaryocyte morphology and RNA sequencing were assessed. The novel variant exhibited significantly higher ANKRD26 transcription levels than previously reported variants (p < 0.001), but did not show any characteristic clinical phenotypes. Megakaryocytes with the novel variant showed reduced proplatelet formation and lower nuclear ploidy. RNA sequencing revealed upregulation of cell proliferation genes, including dedicator of cytokinesis 2 (DOCK2), cluster of differentiation (CD38) and interleukin-1 receptor accessory protein (IL1RAP). No platelet-related or megakaryocyte-related genes other than ANKRD26 were detected in these variants. The new variant disrupted the runt-related transcription factor 1 (RUNX1)-binding site, leading to ANKRD26 overexpression and possible haematopoietic abnormalities, though it did not directly correlate with clinical severity. However, genes linked to cell proliferation (CD38, DOCK2 and IL1RAP) showed increased expression. Our results suggested a potential link to leucocytosis, although further research is required to confirm this.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145068676","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
Incidence and impact of prior history of serious infection in paediatric lymphoma: A population-based study. 儿童淋巴瘤严重感染史的发病率和影响:一项基于人群的研究。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-15 DOI: 10.1111/bjh.70157
Aban S Bahabri, Cindy Lau, Vy H D Kim, Sarah Alexander, Sumit Gupta
{"title":"Incidence and impact of prior history of serious infection in paediatric lymphoma: A population-based study.","authors":"Aban S Bahabri, Cindy Lau, Vy H D Kim, Sarah Alexander, Sumit Gupta","doi":"10.1111/bjh.70157","DOIUrl":"https://doi.org/10.1111/bjh.70157","url":null,"abstract":"<p><p>Children, adolescents and young adults (CAYA) with lymphoma may have undiagnosed inborn errors of immunity (IEI). We assessed the prevalence of prior severe infections in CAYA lymphoma and evaluated its association with post-lymphoma outcomes through a population-based cohort of Ontario CAYA aged 0-21 years diagnosed with Hodgkin or non-Hodgkin lymphoma from 1992 to 2022, matching each case to five controls. Population-based healthcare data identified pre-diagnosis infection-related encounters. We also compared post-diagnosis intensive care unit (ICU) admissions and mortality in lymphoma patients with and without pre-lymphoma infection-related ICU admissions. 2950 CAYA (mean age diagnosis 15.5 ± 4.8 years) and 14 750 matched controls were included. Infection-related ICU admissions were nearly nine times more common among cases versus controls [4.8% vs. 0.6%; odds ratio [OR] 8.9 (95% confidence interval [95% CI]: 6.7-11.7); p < 0.0001]. CAYA with lymphoma and pre-lymphoma infection-related ICU admissions had significantly higher risks of post-lymphoma ICU admissions (6-month incidence: 38.5% vs. 6.6%; hazard ratio [HR] 7.3 [95% CI: 5.7-9.3]; p < 0.0001) and mortality (5-year overall survival: 66.6% vs. 93.5%; HR 6.6 [95% CI: 5.0-8.6]; p < 0.0001) than those without such a history. Findings did not differ by lymphoma subtype or age at diagnosis. A significant subset of CAYA with lymphoma likely has an undiagnosed IEI, with higher post-lymphoma infection and mortality risks. Systematic IEI evaluations may be warranted.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145068686","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
Reduced dose prednisone plus eltrombopag for the treatment of newly diagnosed adult primary immune thrombocytopenia: A prospective, multicentre, phase 2 clinical trial. 低剂量强的松加伊曲巴治疗新诊断的成人原发性免疫性血小板减少症:一项前瞻性、多中心、2期临床试验
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-15 DOI: 10.1111/bjh.70168
Qi Liu, Xiaohui Dong, Chunmeng Rong, Yingying Shen, Linglong Xu, Mei Zhou, Xiaohua Xu, Jiaohao Cai, Liqiang Wu, Sai Chen, Di Qiu, Jianzhi Zhao, Penglei Zhou, Shan Liu, Wenbin Liu, Huijing Hu, Yuechao Zhao, Yun Zhang, Yuhong Zhou, Yiping Shen, Baodong Ye, Yongming Xia, Lihong Shou, Dijiong Wu
{"title":"Reduced dose prednisone plus eltrombopag for the treatment of newly diagnosed adult primary immune thrombocytopenia: A prospective, multicentre, phase 2 clinical trial.","authors":"Qi Liu, Xiaohui Dong, Chunmeng Rong, Yingying Shen, Linglong Xu, Mei Zhou, Xiaohua Xu, Jiaohao Cai, Liqiang Wu, Sai Chen, Di Qiu, Jianzhi Zhao, Penglei Zhou, Shan Liu, Wenbin Liu, Huijing Hu, Yuechao Zhao, Yun Zhang, Yuhong Zhou, Yiping Shen, Baodong Ye, Yongming Xia, Lihong Shou, Dijiong Wu","doi":"10.1111/bjh.70168","DOIUrl":"https://doi.org/10.1111/bjh.70168","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145068662","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
Integrating machine learning with transcriptome-wide association studies to identify novel predictive biomarkers for venous thromboembolism. 整合机器学习与全转录组关联研究,以确定静脉血栓栓塞的新型预测性生物标志物。
IF 3.8 2区 医学
British Journal of Haematology Pub Date : 2025-09-14 DOI: 10.1111/bjh.70160
Leihua Fu, Jieni Yu, Zhe Chen, Chao Xu, Feidan Gao, Zhijian Zhang, Jiaping Fu, Pan Hong, Weiying Feng
{"title":"Integrating machine learning with transcriptome-wide association studies to identify novel predictive biomarkers for venous thromboembolism.","authors":"Leihua Fu, Jieni Yu, Zhe Chen, Chao Xu, Feidan Gao, Zhijian Zhang, Jiaping Fu, Pan Hong, Weiying Feng","doi":"10.1111/bjh.70160","DOIUrl":"https://doi.org/10.1111/bjh.70160","url":null,"abstract":"<p><p>Venous thromboembolism (VTE) is a multifactorial disorder in which genetic factors play a critical role. Existing tools like polygenic risk scores rely on single nucleotide polymorphisms (SNPs) with limited biological interpretability, potentially reducing predictive accuracy. To address this limitation, we propose an integrative approach that combines transcriptome-wide association study (TWAS), patient-derived transcriptomic data and machine learning. A total of 577 candidate genes were identified through a TWAS leveraging large-scale genome-wide association study summary statistics. These genes were refined using transcriptomic data from VTE patients and prioritized through the least absolute shrinkage and selection operator (LASSO) and Boruta algorithms, resulting in four predictive genes: KLKB1, ATG16L1, SELL and GLRX2. Predictive models based on these genes, constructed with XGBoost, random forest and logistic regression, demonstrated consistently high performance in both training (area under the receiver operating characteristic curve [AUC] range: 0.913-0.970) and validation cohorts (AUC range: 0.916-0.968). Shapley additive explanations (SHAP) and regression coefficients further supported the contribution of these genes to model predictions. This approach may facilitate the identification of biologically interpretable predictors and contribute to improved VTE risk prediction.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145062958","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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