British Journal of Haematology最新文献

{"title":"Rapid molecular screening of adult AML: Experience from the Spanish CETLAM cooperative group.","authors":"Helena Castellet, Anna Giné-Vilalta, Marta Pratcorona, Guillermo Ramil, Guadalupe Oñate, Francesca Guijarro, Sandra Castaño-Díez, Montserrat Arnan, Helena Pomares, Mar Tormo, Antonia Sampol, Ferran Vall-Llovera, Susana Vives, Antonio Garcia Guiñón, Martín Mascaró, Marta Cervera, Rosa Coll, Sara Garcia, Marta Gómez, Albert Altés, Olga Salamero, Jorge Sierra, Ana Garrido, Jordi Esteve, Josep Nomdedéu","doi":"10.1111/bjh.70865","DOIUrl":"https://doi.org/10.1111/bjh.70865","url":null,"abstract":"<p><p>Genetic testing is essential for risk stratification and early therapeutic decision-making in acute myeloid leukaemia (AML). While 2022 European LeukemiaNet (ELN) guidelines recommend a 3-5-day turnaround time for key molecular markers, next-generation sequencing (NGS) often extends to 15 days in clinical practice. In this study, we evaluated the first-year results of a centralized rapid screening platform for 15 hospitals in the Grupo Cooperativo de Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias (CETLAM) cooperative group, modelled after the German-Austrian Acute Myeloid Leukaemia Study Group (AMLSG) diagnostic strategy. We prospectively enrolled 211 consecutive adult patients with de novo AML. A centralized laboratory performed nucleic acid purification, biobanking and high-priority molecular analysis including nucleophosmin 1 (NPM1), Fms-like tyrosine kinase 3 (FLT3-ITD/TKD), CCAAT enhancer binding protein alpha (CEBPA), isocitrate dehydrogenase 1 and 2 (IDH1/2), lysine methyltransferase 2A (KMT2A-PTD), upstream binding transcription factor (UBTF-TD) and 10 key fusions using polymerase chain reaction (PCR) and capillary electrophoresis. Results were compared with local NGS and cytogenetics to assess diagnostic accuracy and ELN risk reclassification. The mean analytical turnaround time was 3-4 days for high-priority mutations and 7 days for gene fusions. Initial rapid screening accurately identified 98% of favourable-risk cases. However, 74% of patients initially classified as intermediate-risk were reclassified as adverse-risk upon integration of NGS and cytogenetics. This CETLAM initiative demonstrates that a centralized molecular platform is a feasible and reliable strategy for early risk stratification and therapeutic decision-making in AML within a multicentre setting.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178167","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":"Is bridging or slow ramp-up necessary in patients with high tumour load prior to epcoritamab?","authors":"Suthanthira Kannan Ramamoorthy, Tina Noutsos","doi":"10.1111/bjh.70867","DOIUrl":"https://doi.org/10.1111/bjh.70867","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101600","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":"Neutrophil dysregulation following splenectomy in 𝛃-thalassaemia/haemoglobin E: Myeloid homeostasis and the circulating milieu.","authors":"Saovaros Svasti, Pornthip Chaichompoo","doi":"10.1111/bjh.70863","DOIUrl":"https://doi.org/10.1111/bjh.70863","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126318","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":"The missing link in NET regulation after splenectomy: Splenic control on neutrophil signalling in β-thalassaemia/HbE.","authors":"Shahzad Ali Jiskani","doi":"10.1111/bjh.70864","DOIUrl":"https://doi.org/10.1111/bjh.70864","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101540","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":"Outcome heterogeneity in CALR-mutated myeloproliferative neoplasms.","authors":"Resham Mawalkar, Hua-Ling Tsai, Sergiu Pasca, Lukasz P Gondek, Eitan Halper-Stromberg, Rena R Xian, Christopher Gocke, Katherine C Rappazzo, Theodoros Karantanos, B Douglas Smith, Gabrielle T Prince, Amy E DeZern, Alexander J Ambinder, Ivana Gojo, Jonathan A Webster, William Brian Dalton, Gabriel Ghiaur, Mark Levis, Linda Resar, Alison R Moliterno, Tania Jain","doi":"10.1111/bjh.70859","DOIUrl":"10.1111/bjh.70859","url":null,"abstract":"<p><p>Calreticulin gene (CALR) mutations are seen in 25%-30% of myeloproliferative neoplasms (MPNs). We report outcomes and high-risk genomic signatures in 149 patients with CALR-mutated MPN. CALR-mutated essential thrombocythaemia (n = 106) progressed to myelofibrosis (n = 40) at a median of 20.4 years, and 20-year overall survival (OS) was 81%. In 83 patients with myelofibrosis, the median leukaemia-free survival (LFS) was 12.9 years, and OS was 13.9 years. Median survival after leukaemia transformation was 6.8 months. High molecular risk (HMR) mutations included ASXL1, EZH2, SRSF2, U2AF1 (Q157), IDH1/2, TP53, SETBP1, KRAS, NRAS and RUNX1 (later five not included in Mutation-Enhanced International Prognostic Score System [MIPSS70]-plus v2.0); and were associated with a significantly higher leukaemic transformation, inferior LFS and OS (hazard ratio [HR]: 3.82, 95% confidence interval [CI]: 1.30-11.18); with worst outcomes in patients with ≥2 HMR. Independent of MIPSS70-plus v2.0, TP53, KRAS and RUNX1 mutations adversely impacted LFS and OS (HR: 2.87, 95% CI: 1.20-6.88; HR: 3.80, 95% CI: 1.37-10.54; HR: 5.61, 95% CI: 1.53-20.52 respectively). Patients without HMR had a negligible rate of progression. Overall, outcomes are determined not by CALR 'driver' mutation, but by the somatic mutations that can emerge during disease evolution. Hence, serial molecular profiling is important for risk stratification. HMR, including TP53, KRAS and RUNX1, confer inferior survival and support early transplantation consideration.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101521","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":"Massive carcinocythaemia during fulminant relapse of invasive lobular breast carcinoma.","authors":"Amina Djoudi, Roman Vion, Olivier Matray, Lucie Poisson, Cédric Paquin, Victor Bobée","doi":"10.1111/bjh.70847","DOIUrl":"https://doi.org/10.1111/bjh.70847","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101607","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":"21st Annual Sickle Cell & Thalassaemia Conference","authors":"","doi":"10.1111/bjh.70838","DOIUrl":"https://doi.org/10.1111/bjh.70838","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"209 S1","pages":"S5-S173"},"PeriodicalIF":3.6,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149099462","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":"Warm autoimmune haemolytic anaemia in Taiwan: A population-based study of epidemiology, treatment patterns, survival and healthcare utilisation (2017-2022).","authors":"Hsiao-Wen Kao, Shu-Chen Chang, Dae Young Yu, Tse-Chih Chou, I-Ching Tsai, Ann Leon, Alexis Krumme, David Bin-Chia Wu, Chee Jen Chang","doi":"10.1111/bjh.70792","DOIUrl":"https://doi.org/10.1111/bjh.70792","url":null,"abstract":"<p><p>To describe the epidemiology, treatment patterns, overall survival (OS) and healthcare resource use among patients with warm autoimmune haemolytic anaemia (wAIHA) in Taiwan, adult patients with ≥1 diagnosis code for autoimmune haemolytic anaemia (AIHA) with record of wAIHA-related treatments between 2017 and 2022 were retrospectively identified from Taiwan's National Health Insurance Research Database linked with the National Death Registry and Taiwan Cancer Registry. The wAIHA incidence was 1.27 per 100 000 person-years, and the 2022 prevalence was 4.58 per 100 000 persons. Corticosteroid monotherapy was the most common treatment across all lines, with 30.2% of patients remaining on corticosteroids 2 years after diagnosis. Blood transfusions were common in the first year following diagnosis, with 52.5% of patients receiving at least one emergency transfusion. The 5-year OS probability, estimated using Kaplan-Meier analysis, was 67.1%. The median annualised medical cost was NT$ (New Taiwan dollar) 106 464 (interquartile range [IQR]: 49 088-285 856) or US$ (US dollar) 3327 (IQR: 1534-8933). Intensive care unit admissions were the primary cost driver (adjusted exponentiated coefficient: 2.76 [95% confidence interval: 2.26-3.36]), determined using a generalised linear model with a gamma distribution and log link function. Overall, significant unmet medical needs remain for wAIHA management in Taiwan, including addressing prolonged reliance on corticosteroids, sub-optimal OS outcomes and high medical service use.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101581","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":"KMT2A amplification marks TP53-altered, complex-karyotype malignant clones in haematological malignancies.","authors":"Jialong Liu, Yingnan Xiao, Xue Wu, Shuping Liu, Lisha Lu, Xue Lai, Junyan Zou, Shuang Qin, Yakun Mou, Jinying Gong","doi":"10.1111/bjh.70844","DOIUrl":"https://doi.org/10.1111/bjh.70844","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101598","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":"Is shortening of corticosteroid duration feasible in paediatric warm autoimmune haemolytic anaemia? A single-centre experience over 15 years.","authors":"Rafael Moisan, Stephany Gelin, Valérie Arsenault, Nancy Robitaille, Yves Pastore, Thomas Pincez","doi":"10.1111/bjh.70862","DOIUrl":"https://doi.org/10.1111/bjh.70862","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101532","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}