Haematologica最新文献_第5页

Serial next-generation sequencing for detecting germline predisposition in acute myeloid leukemia. 序列新一代测序检测急性髓系白血病的种系易感性。

IF 10.1 1区医学

Haematologica Pub Date : 2025-07-03 DOI: 10.3324/haematol.2025.287794

Jae-Sook Ahn,Joo Heon Park,ChangSun Lee,Ik-Chan Song,Mi Yeon Kim,Sang Kyun Sohn,Ho-Young Yhim,Yong Park,Inho Kim,Ho-Jin Shin,Seong-Kyu Park,Sung-Hyun Kim,June-Won Cheong,Ho Sup Lee,Hyewon Lee,Sung Hwa Bae,Yunsuk Choi,Hong-Ghi Lee,Young Rok Do,Jae Joon Han,Min Kyoung Kim,Silvia Park,Hee-Je Kim,Hyeoung-Joon Kim

引用次数: 0

A breath of relief: nitrous oxide in sickle cell disease. 让人松一口气：一氧化二氮治疗镰状细胞病。

IF 10.1 1区医学

Haematologica Pub Date : 2025-07-03 DOI: 10.3324/haematol.2025.288195

Thiago Trovati Maciel

引用次数: 0

Minimal residual disease status predicts outcomes in patients with follicular lymphoma treated with chemo-immunotherapy on the SWOG S0016 trial. 在SWOG S0016试验中，最小残留疾病状态预测化疗免疫治疗的滤泡性淋巴瘤患者的预后。

IF 10.1 1区医学

Haematologica Pub Date : 2025-07-03 DOI: 10.3324/haematol.2025.288057

Alexey V Danilov,Hongli Li,Mazyar Shadman,Lisa Rimsza,Ahmad Zebari,Sonali M Smith,Michael LeBlanc,Jonathan W Friedberg,Christopher Carlson,Joo Y Song

引用次数: 0

Teclistamab for heavily pretreated relapsed / refractory POEMS syndrome. 特司他抗重度预处理的复发/难治性POEMS综合征。

IF 10.1 1区医学

Haematologica Pub Date : 2025-07-03 DOI: 10.3324/haematol.2025.287606

Alexis Talbot,Nathalie Forgeard,Tristan Vaugeois,Floriane Theves,Sabrine Dimassi,Bruno Royer,Pierre-Edouard Debureaux,Véronique Meignin,Laetitia Vercellino,David Boutboul,Bertrand Arnulf,Stéphanie Harel

引用次数: 0

FLI1 and GATA1 govern TLN1 transcription: new insights into FLI1-related platelet disorders. FLI1和GATA1调控TLN1转录：对FLI1相关血小板疾病的新见解

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2025-01-02 DOI: 10.3324/haematol.2024.286372

Elisa Gabinaud, Laurent Hannouche, Mathilde Veneziano-Broccia, Johannes Van Agthoven, Justine Suffit, Julien Maurizio, Delphine Potier, Dominique Payet-Bornet, Delphine Bastelica, Elisa Andersen, Manal Ibrahim-Kosta, Timothée Bigot, Céline Falaise, Anne Vincenot, Pierre-Emmanuel Morange, Paul Saultier, Marie-Christine Alessi, Marjorie Poggi, Hemostasis Unit Of Lille

{"title":"FLI1 and GATA1 govern TLN1 transcription: new insights into FLI1-related platelet disorders.","authors":"Elisa Gabinaud, Laurent Hannouche, Mathilde Veneziano-Broccia, Johannes Van Agthoven, Justine Suffit, Julien Maurizio, Delphine Potier, Dominique Payet-Bornet, Delphine Bastelica, Elisa Andersen, Manal Ibrahim-Kosta, Timothée Bigot, Céline Falaise, Anne Vincenot, Pierre-Emmanuel Morange, Paul Saultier, Marie-Christine Alessi, Marjorie Poggi, Hemostasis Unit Of Lille","doi":"10.3324/haematol.2024.286372","DOIUrl":"10.3324/haematol.2024.286372","url":null,"abstract":"Germline variants of FLI1, essential for megakaryopoiesis, are linked to bleeding disorders, platelet aggregation defects and mild thrombocytopenia. However, the mechanisms behind these abnormalities remain unclear. This study aims to elucidate the impact of FLI1 variants on human megakaryocytes and platelets. We focused on four FLI1 variants, two of which are novel: p.G307R and p.R340C. We assessed the impact of FLI1 variants on megakaryopoiesis using single-cell RNA sequencing, and defects were confirmed in patients' platelets and cell lines. Results showed variants p.R337Q, p.K345E and p.R340C exhibited faulty nuclear localization and defective transcriptional activity in vitro and variants p.K345E and p.G307R affected protein stability. A total of 626 genes were differentially expressed in patient megakaryocytes, including genes associated with the platelet activation pathway. TLN1 was among the most down-regulated genes, with an 88% reduction in talin-1 protein levels in FLI1 patients' platelets. Analysis of chromatin immunoprecipitation sequencing data revealed FLI1-binding regions in the TLN1 gene. Luciferase reporter gene assays revealed the functional role of an intronic binding region in cooperation with GATA1. FLI1 variants were linked to reduced cooperative transcriptional activity. These findings reveal novel mechanisms underlying the pathogenicity of FLI1 variants. Defective cooperation between FLI1 variants and GATA1 may play a role in talin-1 deficiency in FLI1 patients' platelets, thus contributing to platelet dysfunction. Moreover, talin-1 could serve as a biomarker for classifying the pathogenicity of FLI1 variants.","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"1584-1595"},"PeriodicalIF":8.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patients with high-risk acute promyelocytic leukemia need maintenance therapy for 1 year - the PROS. 高危急性早幼粒细胞白血病患者需要一年的维持治疗。

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2025-04-03 DOI: 10.3324/haematol.2025.287417

Martin S Tallman

引用次数: 0

Binding of therapeutic Fc-fused factor VIII to the neonatal Fc receptor at neutral pH associates with poor half-life extension. 治疗性Fc融合因子VIII与中性pH下新生儿Fc受体的结合与半衰期延长不良相关。

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2024-12-12 DOI: 10.3324/haematol.2024.286536

Alejandra Reyes-Ruiz, Sandrine Delignat, Aishwarya Sudam Bhale, Victoria Daventure, Robin V Lacombe, Leslie Dourthe, Olivier Christophe, Sune Justesen, Krishnan Venkataraman, Jordan D Dimitrov, Sebastien Lacroix-Desmazes

{"title":"Binding of therapeutic Fc-fused factor VIII to the neonatal Fc receptor at neutral pH associates with poor half-life extension.","authors":"Alejandra Reyes-Ruiz, Sandrine Delignat, Aishwarya Sudam Bhale, Victoria Daventure, Robin V Lacombe, Leslie Dourthe, Olivier Christophe, Sune Justesen, Krishnan Venkataraman, Jordan D Dimitrov, Sebastien Lacroix-Desmazes","doi":"10.3324/haematol.2024.286536","DOIUrl":"10.3324/haematol.2024.286536","url":null,"abstract":"Fusion of therapeutic proteins to the Fc fragment of human immunoglobulin (Ig) G1 promotes their neonatal Fc receptor (FcRn)-mediated recycling and subsequent extension in circulating half-life. However, different Fc-fused proteins, as well as antibodies with different variable domains but identical Fc, may differ in terms of extension in half-life. Here we compared the binding behavior to FcRn of Fc-fused FVIII, Fc-fused FIX and two human monoclonal HIV-1 broadly-neutralizing IgG1, m66.6 and VRC01 with identical Fc. While all molecules bound FcRn at acidic pH, only rFVIIIFc and m66.6 interacted with FcRn at neutral pH. In silico modeling predicted a role for charged residues in the C1 and C2 domains of FVIII, and in the variable domains of m66.6, in the neutral binding to FcRn. Accordingly, mutations of key positively charged amino-acids in the FVIII C1C2 domains decreased the binding of the protein to FcRn at pH 7.4 in vitro and increased the half-life of rFVIIIFc in von Willebrand factor- knockout mice. Our findings suggest that the removal of positively charged patches on Fc-fused proteins to ameliorate FcRn recycling without affecting therapeutic efficacy, may improve their pharmacokinetic properties.","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"1523-1535"},"PeriodicalIF":8.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

One CHiP to rule them all? Mechanistic insight into carfilzomib-induced lung injury with neutrophil extracellular trap formation following cellular immunotherapy. 一个芯片可以统治所有芯片？细胞免疫治疗后卡非佐米诱导的肺损伤与中性粒细胞胞外陷阱形成的机制。

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2025-02-13 DOI: 10.3324/haematol.2024.286596

Julia Katharina Scholz, Lena Stabel, Nora Rebecca Schwingen, Jasmin Knopf, Anna-Sophie Flatt, Tobias Bäuerle, Stefan Krause, Heidi Waibel, Moritz Leppkes, K Martin Kortüm, Hermann Einsele, Andreas Mackensen, Martin Herrmann, Simon Völkl, Fabian Müller

引用次数: 0

Bispecific antibodies in follicular lymphoma. 滤泡淋巴瘤中的双特异性抗体

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2024-10-31 DOI: 10.3324/haematol.2024.285245

Imran A Nizamuddin, Nancy L Bartlett

{"title":"Bispecific antibodies in follicular lymphoma.","authors":"Imran A Nizamuddin, Nancy L Bartlett","doi":"10.3324/haematol.2024.285245","DOIUrl":"10.3324/haematol.2024.285245","url":null,"abstract":"Bispecific antibodies, specifically anti-CD20 T-cell engaging constructs, are poised to alter the treatment paradigm for multiple B-cell malignancies, including follicular lymphoma. Two CD20xCD3 bispecific antibodies, mosunetuzumab and epcoritamab, are now approved in the United States for third-line or later treatment of follicular lymphoma. A third agent, odronextamab, remains under review by regulatory agencies. In pivotal phase II trials, these bispecific antibodies demonstrated overall response rates of approximately 80%, with complete response rates of 60-70%, the majority of which have been durable at 2 years. Important safety signals included risk of infections, neutropenia, and cytokine release syndrome, which occurred in approximately half of patients, but was rarely high grade. Despite similar efficacy and toxicity profiles, key differences exist among agents, primarily relating to treatment duration, route of administration, and prophylactic corticosteroid use. Several ongoing studies are exploring bispecific antibodies in earlier lines of treatment, either as single agents or in combination with other active therapies. This novel class of agents is likely to play a pivotal role in improving outcomes for patients with follicular lymphoma.","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"1472-1482"},"PeriodicalIF":8.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prognostic relevance of variant allele frequency for treatment outcomes in patients with acute myeloid leukemia: a study by the Spanish PETHEMA registry. 变异等位基因频率与急性髓性白血病患者治疗结果的预后相关性：西班牙PETHEMA登记处的一项研究。

IF 8.2 1区医学

Haematologica Pub Date : 2025-07-01 Epub Date: 2025-02-27 DOI: 10.3324/haematol.2024.286311

Rafael Colmenares, Noemi Alvarez, Eva Barragan, Blanca Boluda, Maria J Larrayoz, Maria Carmen Chillon, Elena Soria-Saldise, Cristina Bilbao, Joaquin Sanchez-Garcia, Teresa Bernal, David Martinez-Cuadron, Cristina Gil, Josefina Serrano, Carlos Rodriguez-Medina, Juan Bergua, Jose A Perez-Simon, Maria Calbacho, Juan M Alonso-Dominguez, Jorge Labrador, Mar Tormo, Pilar Herrera-Puente, Cristina Martin-Arriscado, Andres Arroyo-Barea, Inmaculada Rapado, Claudia Sargas, Iria Vazquez, Maria J Calasanz, Teresa Gomez-Casares, Ramon Garcia-Sanz, Rebeca Rodriguez-Veiga, Joaquin Martinez-Lopez, Rosa Ayala, Pau Montesinos, Pethema Group

引用次数: 0