Kristine A Karkoska, Jahnavi Gollamudi, Brady J Williamson, Russell P Sawyer, Daniel Woo, Achala Vagal, Hyacinth I Hyacinth
{"title":"Association of enlarged perivascular space burden with silent cerebral infarcts in children with sickle cell disease.","authors":"Kristine A Karkoska, Jahnavi Gollamudi, Brady J Williamson, Russell P Sawyer, Daniel Woo, Achala Vagal, Hyacinth I Hyacinth","doi":"10.1111/bjh.70894","DOIUrl":"https://doi.org/10.1111/bjh.70894","url":null,"abstract":"<p><p>Children with sickle cell disease (SCD) have enlarged perivascular spaces (ePVS) in their basal ganglia (BG) and centrum semiovale (CSO) visible on magnetic resonance imaging (MRI). ePVS are dilated fluid-filled spaces around penetrating arterioles and venules of the brain parenchyma and are a marker of cerebral small vessel disease in adults. We used the T2-weighted MRI from the Silent Cerebral Infarct Transfusion Trial to (1) quantify the ePVS burden in children with the severe SCD genotypes and (2) evaluate for an association between ePVS burden and silent cerebral infarcts (SCIs) adjusted for laboratory/imaging measures of SCD severity. The study included 929/1191 (78%) of participants with a median age of 8.9 (5-15) years, 48% female, and 48% had a high ePVS burden in at least one region. More children with a higher ePVS burden in the BG and whole brain had at least one SCI, whereas there was no difference in SCI based on ePVS burden status in the CSO. In multivariable logistic regression, high ePVS burden was associated with the presence of SCI in the BG and whole brain only. ePVS may become a useful neuroimaging biomarker of SCD-related neurological disease.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149222884","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}
{"title":"Subtype- and functional class-dependent prognostic impact of CSF3R mutations in acute myeloid leukaemia: A cohort study of 2500 patients.","authors":"Jingyao An, Yan Hui, Yan Li, Ying Wang, Benfa Gong, Yuntao Liu, Shouyun Li, Dong Lin, Kaiqi Liu, Guangji Zhang, Chunlin Zhou, Xiaoyuan Gong, Shaowei Qiu, Bingcheng Liu, Yingchang Mi, Qiuyun Fang, Jianxiang Wang, Hui Wei","doi":"10.1111/bjh.70909","DOIUrl":"https://doi.org/10.1111/bjh.70909","url":null,"abstract":"<p><p>Colony-stimulating factor 3 receptor (CSF3R) mutations occur in acute myeloid leukaemia (AML), but their prognostic significance remains unclear. We analysed 2500 patients with newly diagnosed de novo non-acute promyelocytic leukaemia (APL) AML treated with intensive induction therapy. CSF3R<sup>mut</sup> were identified in 3.5% and frequently co-occurred with CCAAT/enhancer-binding protein alpha bZIP domain (CEBPA-bZip) mutations and RUNX family transcription factor 1::RUNX1 partner transcriptional co-repressor 1 (RUNX1::RUNX1T1) fusions. In the entire cohort, CSF3R<sup>mut</sup> were associated with inferior relapse-free survival (RFS), but not overall survival (OS) or event-free survival (EFS). The prognostic impact was context-dependent. The adverse association was most consistent in CEBPA-bZip AML, with inferior OS, EFS (hazard ratio [HR], 2.76; p = 0.001) and RFS (HR, 2.66; p = 0.002) and persisted after multivariable adjustment and time-dependent modelling of transplantation. Membrane-proximal activating mutations (MPM) were associated primarily with inferior RFS (HR, 2.27; p = 0.001) in the overall cohort, whereas cytoplasmic-tail truncating mutations (CTTM) showed no consistent adverse effect. In CEBPA-bZip AML, both MPM and CTTM showed adverse EFS and RFS associations, although the CTTM subgroup was small. The prognostic impact of CSF3R<sup>mut</sup> in AML depends on molecular context and functional mutation class, with the strongest adverse associations observed in CEBPA-bZip AML.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219787","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}
Inna Sareneva, Lotta Joutsi-Korhonen, Tomi Virtanen, Tuulia Palukka, Anna Lempiäinen, Jaana Mättö, Kati Hyvärinen, Katri Haimila
{"title":"Identification of rare blood group donors from biobank data.","authors":"Inna Sareneva, Lotta Joutsi-Korhonen, Tomi Virtanen, Tuulia Palukka, Anna Lempiäinen, Jaana Mättö, Kati Hyvärinen, Katri Haimila","doi":"10.1111/bjh.70893","DOIUrl":"https://doi.org/10.1111/bjh.70893","url":null,"abstract":"<p><p>Safe blood transfusion relies on avoiding clinically significant incompatibilities between recipient antibodies and donor red blood cell antigens, a requirement that becomes particularly challenging for patients with rare blood group phenotypes, especially when alloimmunized. Conventional approaches to identifying rare blood group donors rely on targeted screening and laborious laboratory studies, which are limited by resource constraints and insufficient population diversity. The aim of this study was to enhance the identification of rare blood group donors in Finland by utilizing genome-wide data from our national Blood Service Biobank. Genomic variants associated with rare phenotypes were screened in 56 997 blood donors, after which the rare blood group was confirmed using routine methods. To estimate the need for rare blood group units, we utilized data from the Helsinki University Hospital (HUS) Data Lake and the laboratory information system of the HUS Blood Bank. Eighty-six new rare donors were identified, with complete concordance between genomic results and confirmed phenotypes. Patient data highlighted donor needs and identified rare phenotypes, particularly those more prevalent among individuals of African ancestry. These findings demonstrate the value of biobank genomic data in expanding rare donor registries and improving transfusion preparedness.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219669","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}
Noreen M Elbayoumi, May A Denewer, Omnia Khaled, Nashwa K Abousamra, Emad Azmy
{"title":"CD19+ CD 38+ regulatory B lymphocytes as exploratory prognostic markers of steroid-induced remission in treatment-naïve adult immune thrombocytopenia.","authors":"Noreen M Elbayoumi, May A Denewer, Omnia Khaled, Nashwa K Abousamra, Emad Azmy","doi":"10.1111/bjh.70895","DOIUrl":"https://doi.org/10.1111/bjh.70895","url":null,"abstract":"<p><p>Corticosteroids are commonly used as first-line therapy for immune thrombocytopenia (ITP) to suppress immune-mediated platelet destruction. However, some patients fail to respond, and prolonged use is associated with significant adverse effects, necessitating alternative therapeutic modalities. The aim of this study was to evaluate the role of Cluster of differentiation (CD)19<sup>+</sup>CD38<sup>+</sup> B cells with presumed regulatory potential as exploratory prognostic markers of steroid-induced response in treatment-naïve adult ITP patients. This prospective cohort study included 37 adults with newly diagnosed primary ITP treated with a standardised dexamethasone regimen at a single centre between November 2021 and June 2023. CD19<sup>+</sup>CD38<sup>+</sup> B cells were quantified using flow cytometry. Treatment response at 12 weeks was assessed. Multivariate logistic regression analysis was performed to determine independent prognostic markers of response. Complete response was achieved in 43% of patients, while 57% had steroid-refractory disease. Univariate analysis identified baseline platelet count, bleeding manifestations, age and response time as significant factors. Multivariate analysis demonstrated that a higher baseline percentage of CD19<sup>+</sup>CD38<sup>+</sup> cells independently predicted steroid-induced remission (p < 0.001). Receiver operating characteristic (ROC) analysis identified a cut-off value >2.6% for predicting remission (p = 0.001). Baseline CD19<sup>+</sup>CD38<sup>+</sup> B-cell levels may serve as a useful biomarker for predicting steroid response in ITP.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219648","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}
Jonathan Bordat, Felipe Suarez, Matthieu Jestin, Guillaume Bonnard, Joy Benadiba, Stephane Vanderbecken, Thierry Molina, Valérie Cormier-Daire, Regis Peffault de Latour, Marie Passet, Jean Soulier, Mathilde Doyard, Lise Larcher, Veronique Meignin, Flore Sicre de Fontbrune
{"title":"Long-term NSAID efficacy in haematological and bone manifestation of Ghosal haematodiaphyseal dysplasia: An expanded cohort.","authors":"Jonathan Bordat, Felipe Suarez, Matthieu Jestin, Guillaume Bonnard, Joy Benadiba, Stephane Vanderbecken, Thierry Molina, Valérie Cormier-Daire, Regis Peffault de Latour, Marie Passet, Jean Soulier, Mathilde Doyard, Lise Larcher, Veronique Meignin, Flore Sicre de Fontbrune","doi":"10.1111/bjh.70875","DOIUrl":"https://doi.org/10.1111/bjh.70875","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219655","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}
Parul Rai, Subodh Selukar, Yu Bi, Shuyan Chen, Anthony Merlocco, Cara E Morin, Chris Goode, Jeffrey A Towbin, Mark Rushing, Michael A Rebolledo, Vijaya Joshi, Alexis Leonard, Jane S Hankins, Deepa Manwani, Clifford M Takemoto, Stephen Gottschalk, Brandon Triplett, Jason N Johnson, Akshay Sharma
{"title":"Sustained improvement in sickle cell cardiomyopathy after haematopoietic stem cell transplantation is superior to that with disease-modifying therapy.","authors":"Parul Rai, Subodh Selukar, Yu Bi, Shuyan Chen, Anthony Merlocco, Cara E Morin, Chris Goode, Jeffrey A Towbin, Mark Rushing, Michael A Rebolledo, Vijaya Joshi, Alexis Leonard, Jane S Hankins, Deepa Manwani, Clifford M Takemoto, Stephen Gottschalk, Brandon Triplett, Jason N Johnson, Akshay Sharma","doi":"10.1111/bjh.70891","DOIUrl":"https://doi.org/10.1111/bjh.70891","url":null,"abstract":"<p><p>Allogeneic haematopoietic stem cell transplantation (HSCT) is curative for sickle cell disease (SCD) - a group of inherited haemoglobin disorders encompassing homozygous haemoglobin S (HbSS) and compound heterozygous sickling disorders, including haemoglobin SC disease (HbSC), haemoglobin S/β<sup>0</sup>-thalassaemia (HbSβ<sup>0</sup>), haemoglobin S/β<sup>+</sup>-thalassaemia (HbSβ<sup>+</sup>), etc., but its long-term impact on SCD myocardial remodelling is incompletely characterized. We performed serial cardiac magnetic resonance imaging (CMR) and echocardiography in children and young adults with SCD undergoing matched-sibling or haploidentical HSCT in a prospective clinical trial with up to 36 months of post-HSCT follow-up. CMR assessments were conducted before HSCT and through the post-HSCT period. Echocardiographic parameters at 12 months post HSCT were compared with those of age-matched participants receiving disease-modifying therapies (DMTs). Among 20 HSCT recipients (mean age 14.8 years), CMR demonstrated progressive reductions in biventricular volumes and left atrial volume over 36 months, with preservation of ejection fraction. Extra-cellular volume, a surrogate marker of myocardial fibrosis, showed significant improvement from baseline, having normalized in nearly all participants assessed at 36 months. Compared with age-matched DMT recipients, HSCT recipients had lower tricuspid regurgitant jet velocity and improved diastolic parameters at 12 months post-HSCT, with normalization of cardiac output on echocardiography. These findings demonstrate sustained reversal of myocardial fibrosis and structural cardiac remodelling after HSCT for SCD. HSCT may, therefore, modify the trajectory of SCD cardiomyopathy beyond the improvements achieved with current DMTs.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149219726","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}
Elizabeth Williams, Roxanne Dyas, Katherine Colman, Suzannah Kinsella, Amanda Gwee, Amy Lovell, Andrew R Gennery, Mary Slatter, Lori Chait-Rubinek, Eileen Van Der Stoep, Arjan Lankester, Hilda Mekelenkamp, Ben Gelbart, Karen Nicholson, Lorna McLeman, Shivanthan Shanthikumar, Vanessa Clifford, Theresa Cole, Gabrielle M Haeusler, Lisa M Ott de Bruin, Tim Prestidge, Adam Nelson, Kanchan Rao, Rachel Conyers
{"title":"Paediatric haematopoietic stem cell transplantation research priorities: Results from an international multi-stakeholder priority setting partnership.","authors":"Elizabeth Williams, Roxanne Dyas, Katherine Colman, Suzannah Kinsella, Amanda Gwee, Amy Lovell, Andrew R Gennery, Mary Slatter, Lori Chait-Rubinek, Eileen Van Der Stoep, Arjan Lankester, Hilda Mekelenkamp, Ben Gelbart, Karen Nicholson, Lorna McLeman, Shivanthan Shanthikumar, Vanessa Clifford, Theresa Cole, Gabrielle M Haeusler, Lisa M Ott de Bruin, Tim Prestidge, Adam Nelson, Kanchan Rao, Rachel Conyers","doi":"10.1111/bjh.70901","DOIUrl":"https://doi.org/10.1111/bjh.70901","url":null,"abstract":"<p><p>Co-designed research in paediatric HSCT is limited. We sought to determine research priorities which represent the shared priorities of patients, parents, carers and healthcare professionals (HCP) within Australia, New Zealand, the Netherlands and the United Kingdom. An international, multiphase priority-setting methodology was implemented in partnership with the James Lind Alliance and delivered over an 18-month period. Part 1: an international scoping survey asked respondents to submit their research uncertainties related to paediatric HSCT. Part 2: summarising and evidence-checking the submitted uncertainties. Part 3: interim prioritisation survey. Part 4: consensus workshop. In the first international scoping survey, 667 topic ideas were suggested (45% by consumers, 55% by HCP), which were categorised into 80 summary questions. After systematic literature review, 35 summary questions were judged to be true uncertainties (i.e. not answered by existing evidence). These 35 uncertainties were included in a second interim prioritisation survey and completed by 224 participants. From those, a shortlist of 19 questions was drawn. After a multistakeholder workshop, consensus was reached on the top 10 priorities. The PSP identified important research gaps in the management of paediatric HSCT. Priority areas included: implementing personalised medicine approaches, improving immune recovery and adjunct interventions such as exercise, nutrition and microbiome-directed strategies.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206326","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}
Astrid Pavlovsky, Lorena Fiad, Isolda Fernández, Virginia Prates, Nicolas Kurgansky, Amalia Cerutti, Federico Sackmann, Florencia Negri, Pedro Negri, Guillermina Remaggi, Luciana Ferrari, Luciana Guanchiale, Romina Mariano, Franco Giuliani, Juan Maradei, Gonzalo Bentolila, Fernando Warley, Maximiliano Riddick, Santiago Pavlovsky
{"title":"Long-term follow-up of PET/CT-adapted therapy after three cycles of ABVD for all stages of classic Hodgkin lymphoma: Results of the GATLA LH-05 trial","authors":"Astrid Pavlovsky, Lorena Fiad, Isolda Fernández, Virginia Prates, Nicolas Kurgansky, Amalia Cerutti, Federico Sackmann, Florencia Negri, Pedro Negri, Guillermina Remaggi, Luciana Ferrari, Luciana Guanchiale, Romina Mariano, Franco Giuliani, Juan Maradei, Gonzalo Bentolila, Fernando Warley, Maximiliano Riddick, Santiago Pavlovsky","doi":"10.1111/bjh.70721","DOIUrl":"10.1111/bjh.70721","url":null,"abstract":"<div>\u0000 \u0000 <p>The Grupo Argentino de Tratamiento de la Leucemia Aguda (GATLA) LH-05 trial evaluated positron emission tomography-computed tomography (PET-CT)-guided ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine) in patients with stage I–IV classic Hodgkin lymphoma (cHL). A total of 563 patients with cHL stages I–IV were included in the prospective, non-randomized GATLA LH-05 trial. Patients received three cycles of ABVD followed by PET-CT (PET3). Patients with PET3 Deauville score (DS) 1–2 discontinued treatment, DS 3–4 completed six ABVD with involved-field radiotherapy (IFRT) and DS 5 received salvage chemotherapy. Progression-free survival (PFS) and overall survival (OS) were estimated using the Kaplan–Meier method. Prognostic factors for PFS were assessed using Cox regression. After a median follow-up of 93.5 months Interquartile Range (IQR) 54–139, 5- and 10-year PFS for the whole cohort were 78.9% 95% Confidence Interval (CI) 75.5–82.6 and 76.2% (95% CI 72.4–80.2) respectively. Five- and 10-year OS were 95.2% (95% CI 93.3–97.0) and 93.7% (95% CI 91.5–96.0). All PET3-negative patients achieved 10-year PFS of 84.4%. PET3 was the strongest predictor of PFS, while disease stage had no independent prognostic significance. With extended follow-up, PET-CT-adapted therapy after three cycles of ABVD provides durable disease control while reducing exposure to chemotherapy and radiotherapy. These results support PET-CT-guided treatment discontinuation in PET3-negative patients across all stages of cHL.</p>\u0000 </div>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"209 4","pages":"1610-1618"},"PeriodicalIF":3.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148700233","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}
Cecilie Velsoe Maeng, Pei Meng, Mathias Heldbo, Olafur Davidsson, Morten Munk Johansen, Sigrún Thorsteinsdóttir, Jojo Biel-Nielsen Dietz, Ragnar Pétur Kristjansson, Ole Birger Vesterager Pedersen, Erik Sørensen, Christian Erikstrup, Christina Mikkelsen, Nanna Brøns, Henrik Ullum, Bitten Aagaard, Mie Topholm Bruun, Estrid Høgdall, DBDS Research Consortium, CHB Research Consortium, Bo Porse, Simon Husby, Sisse R. Ostrowski, Henrik Hjalgrim, Kirsten Grønbæk
{"title":"Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts","authors":"Cecilie Velsoe Maeng, Pei Meng, Mathias Heldbo, Olafur Davidsson, Morten Munk Johansen, Sigrún Thorsteinsdóttir, Jojo Biel-Nielsen Dietz, Ragnar Pétur Kristjansson, Ole Birger Vesterager Pedersen, Erik Sørensen, Christian Erikstrup, Christina Mikkelsen, Nanna Brøns, Henrik Ullum, Bitten Aagaard, Mie Topholm Bruun, Estrid Høgdall, DBDS Research Consortium, CHB Research Consortium, Bo Porse, Simon Husby, Sisse R. Ostrowski, Henrik Hjalgrim, Kirsten Grønbæk","doi":"10.1111/bjh.70688","DOIUrl":"10.1111/bjh.70688","url":null,"abstract":"<p>Mosaic chromosomal alterations (mCAs) are large somatic gains, losses and copy-neutral loss of heterozygosity identified in the peripheral blood, which represent a relatively unexplored spectrum of clonal haematopoiesis. We aimed to describe mCAs in two large Danish cohorts with extensive long-term registry-based follow-up and examine associations with haematological malignancy. We analysed genotype data from 97 752 participants from the Danish Blood Donor Study and 86 301 patients from the Copenhagen Hospital Biobank using the MoChA software. Association to haematological cancers was modelled with competing-risk methods and Cox regression, or logistic regression, via nationwide register linkage. Among 184 053 individuals, 15 459 (8%) carried autosomal mCAs and 14 322 females (17%) had loss of X, with prevalence increasing with age. In samples before or after diagnosis of haematological cancer, autosomal mCAs were detectable in 21%–62% of individuals depending on cancer subtype. Overall, the risk of haematological cancer was increased for individuals carrying autosomal mCA (hazard ratio [HR] 4.1 (95% confidence interval [CI] 3.1–5.5)), but not for individuals carrying loss of X chromosome (HR 1.1 [95% CI 0.7–1.6]). The level of malignancy risk was highly variable between different chromosomal aberrations, and cancer gene–related mCAs conveyed highest risk. Autosomal mCAs, especially those overlapping cancer gene loci, identify individuals at increased risk of haematological malignancy and may assist improvement of risk stratification and early detection.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"209 4","pages":"1549-1561"},"PeriodicalIF":3.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.70688","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148519748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}