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Putting the brakes on cyclin C - a promising strategy to cure B-cell acute lymphoblastic leukemia?
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-02 DOI: 10.3324/haematol.2024.286705
Siva Sai Naga Anurag Muddineni, Michael Milyavsky
{"title":"Putting the brakes on cyclin C - a promising strategy to cure B-cell acute lymphoblastic leukemia?","authors":"Siva Sai Naga Anurag Muddineni, Michael Milyavsky","doi":"10.3324/haematol.2024.286705","DOIUrl":"https://doi.org/10.3324/haematol.2024.286705","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
FLI1 and GATA1 govern TLN1 transcription: new insights into FLI1-related platelet disorders.
IF 8.2 1区 医学
Haematologica Pub 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
{"title":"FLI1 and GATA1 govern <i>TLN1</i> 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","doi":"10.3324/haematol.2024.286372","DOIUrl":"10.3324/haematol.2024.286372","url":null,"abstract":"<p><p>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 patient 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 downregulated genes, with an 88% reduction in talin-1 protein levels in FLI1 patient 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 patient platelets, thus contributing to platelet dysfunction. Moreover, talin-1 could serve as a biomarker for classifying the pathogenicity of FLI1 variants.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary myelofibrosis progression: a game of cellular telephone.
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-02 DOI: 10.3324/haematol.2024.286665
Lucas Wadley, Angela Fleischman
{"title":"Primary myelofibrosis progression: a game of cellular telephone.","authors":"Lucas Wadley, Angela Fleischman","doi":"10.3324/haematol.2024.286665","DOIUrl":"https://doi.org/10.3324/haematol.2024.286665","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
A case series of patients with β-thalassemia trait and iron overload: from multifactorial hepcidin suppression to treatment with mini-phlebotomies.
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-02 DOI: 10.3324/haematol.2024.286413
Fabiana Busti, Annalisa Castagna, Giacomo Marchi, Alice Vianello, Fabio Chesini, Claudia Bozzini, Camila Dos Santos Lima, Nicola Martinelli, Elizabeta Nemeth, Tomas Ganz, Domenico Girelli
{"title":"A case series of patients with β-thalassemia trait and iron overload: from multifactorial hepcidin suppression to treatment with mini-phlebotomies.","authors":"Fabiana Busti, Annalisa Castagna, Giacomo Marchi, Alice Vianello, Fabio Chesini, Claudia Bozzini, Camila Dos Santos Lima, Nicola Martinelli, Elizabeta Nemeth, Tomas Ganz, Domenico Girelli","doi":"10.3324/haematol.2024.286413","DOIUrl":"https://doi.org/10.3324/haematol.2024.286413","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Unlocking acid ceramidase: a new weapon against proteasome chemoresistance in myeloma.
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-02 DOI: 10.3324/haematol.2024.286925
Jesus Delgado-Calle
{"title":"Unlocking acid ceramidase: a new weapon against proteasome chemoresistance in myeloma.","authors":"Jesus Delgado-Calle","doi":"10.3324/haematol.2024.286925","DOIUrl":"10.3324/haematol.2024.286925","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Overlapping DNA methylation changes in enhancers in clonal cytopenia of undetermined significance and myelodysplastic neoplasm patients with TET2, IDH2, or DNMT3A mutations.
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-02 DOI: 10.3324/haematol.2024.285466
Katja Kaastrup, Morten Tulstrup, Jakob W Hansen, Claudia Schöllkopf, Klas Raaschou-Jensen, Andreas D Ørskov, Bo Porse, Peter A Jones, Joachim Weischenfeldt, Linn Gillberg, Kirsten Grønbæk
{"title":"Overlapping DNA methylation changes in enhancers in clonal cytopenia of undetermined significance and myelodysplastic neoplasm patients with <i>TET2</i>, <i>IDH2</i>, or <i>DNMT3A</i> mutations.","authors":"Katja Kaastrup, Morten Tulstrup, Jakob W Hansen, Claudia Schöllkopf, Klas Raaschou-Jensen, Andreas D Ørskov, Bo Porse, Peter A Jones, Joachim Weischenfeldt, Linn Gillberg, Kirsten Grønbæk","doi":"10.3324/haematol.2024.285466","DOIUrl":"https://doi.org/10.3324/haematol.2024.285466","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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 real world of acute lymphoblastic leukemia. 急性淋巴细胞白血病的真实世界。
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-01 DOI: 10.3324/haematol.2024.286346
Mark R Litzow
{"title":"The real world of acute lymphoblastic leukemia.","authors":"Mark R Litzow","doi":"10.3324/haematol.2024.286346","DOIUrl":"10.3324/haematol.2024.286346","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"20-21"},"PeriodicalIF":8.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132577","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
Deep phenotyping of nodal T-cell lymphomas reveals immune alterations and therapeutic targets. 结节性T细胞淋巴瘤的深度表型揭示了免疫改变和治疗靶点。
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-01 DOI: 10.3324/haematol.2023.284448
Pierre Stephan, Jimmy Perrot, Allison Voisin, Maud Barbery, Thibault Andrieu, Maxime Grimont, Julie Caramel, Mathilde Bardou, Garance Tondeur, Edoardo Missiaglia, Philippe Gaulard, François Lemmonier, Laurence De Leval, Emmanuel Bachy, Pierre Sujobert, Laurent Genestier, Alexandra Traverse-Glehen, Yenkel Grinberg-Bleyer
{"title":"Deep phenotyping of nodal T-cell lymphomas reveals immune alterations and therapeutic targets.","authors":"Pierre Stephan, Jimmy Perrot, Allison Voisin, Maud Barbery, Thibault Andrieu, Maxime Grimont, Julie Caramel, Mathilde Bardou, Garance Tondeur, Edoardo Missiaglia, Philippe Gaulard, François Lemmonier, Laurence De Leval, Emmanuel Bachy, Pierre Sujobert, Laurent Genestier, Alexandra Traverse-Glehen, Yenkel Grinberg-Bleyer","doi":"10.3324/haematol.2023.284448","DOIUrl":"10.3324/haematol.2023.284448","url":null,"abstract":"<p><p>Whereas immunotherapies have revolutionized the treatment of different solid and hematologic cancers, their efficacy in nodal peripheral T-cell lymphomas (PTCL) is limited, due to a lack of understanding of the immune response they trigger. To fully characterize the immune tumor microenvironment (TME) of PTCL, we performed spectral flow cytometry analyses on 11 angioimmunoblastic T-cell lymphomas (AITL), 7 PTCL, not otherwise specified (PTCL, NOS) lymph node samples, and 10 non-tumoral control samples. The PTCL TME contained a larger proportion of regulatory T cells and exhausted CD8+ T cells, with enriched expression of druggable immune checkpoints. Interestingly, CD39 expression was up-regulated at the surface of most immune cells, and a multi-immunofluorescence analysis on a retrospective cohort of 43 AITL patients demonstrated a significant association between high CD39 expression by T cells and poor patient prognosis. Together, our study unravels the complex TME of nodal PTCL, identifies targetable immune checkpoints, and highlights CD39 as a novel prognostic factor.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"129-141"},"PeriodicalIF":8.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175033","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 stratification in venetoclax-based acute myeloid leukemia treatments: the molecular prognostic risk signature tested in a real-world setting. 基于 Venetoclax 的急性髓性白血病治疗中的预后分层：在真实世界环境中测试的分子预后风险特征。
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-01 DOI: 10.3324/haematol.2024.285934
Gaia Ciolli, Matteo Piccini, Francesco Mannelli, Giacomo Gianfaldoni, Barbara Scappini, Laura Fasano, Francesca Crupi, Elisa Quinti, Andrea Pasquini, Jessica Caroprese, Giada Rotunno, Fabiana Pancani, Leonardo Signori, Chiara Maccari, Fiorenza I Vanderwert, Paola Guglielmelli, Alessandro M Vannucchi
{"title":"Prognostic stratification in venetoclax-based acute myeloid leukemia treatments: the molecular prognostic risk signature tested in a real-world setting.","authors":"Gaia Ciolli, Matteo Piccini, Francesco Mannelli, Giacomo Gianfaldoni, Barbara Scappini, Laura Fasano, Francesca Crupi, Elisa Quinti, Andrea Pasquini, Jessica Caroprese, Giada Rotunno, Fabiana Pancani, Leonardo Signori, Chiara Maccari, Fiorenza I Vanderwert, Paola Guglielmelli, Alessandro M Vannucchi","doi":"10.3324/haematol.2024.285934","DOIUrl":"10.3324/haematol.2024.285934","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"239-243"},"PeriodicalIF":8.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132574","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
LIPA-frogging blast phase chronic myeloid leukemia: hopping over resistance with lysosomal targeting. LIPA-frogging爆发期慢性髓性白血病：利用溶酶体靶向克服耐药性。
IF 8.2 1区 医学
Haematologica Pub Date : 2025-01-01 DOI: 10.3324/haematol.2024.286140
Miguel Quijada-Álamo, Grace Freed, Elvin Wagenblast
{"title":"LIPA-frogging blast phase chronic myeloid leukemia: hopping over resistance with lysosomal targeting.","authors":"Miguel Quijada-Álamo, Grace Freed, Elvin Wagenblast","doi":"10.3324/haematol.2024.286140","DOIUrl":"10.3324/haematol.2024.286140","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"13-15"},"PeriodicalIF":8.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142106895","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
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