Haematologica最新文献

{"title":"Cytogenetic abnormalities in polycythemia vera: phenotypic correlates and prognostic relevance in 669 informative cases.","authors":"Moazah Iftikhar, Masooma Rana, Yamna Jadoon, Maymona Abdelmagid, Kaaren Reichard, Cinthya Zepeda Mendoza, Animesh Pardanani, Ayalew Tefferi, Naseema Gangat","doi":"10.3324/haematol.2025.287569","DOIUrl":"10.3324/haematol.2025.287569","url":null,"abstract":"<p><p>The main objective of the current study was to provide a detailed account of the prognostic relevance of abnormal karyotype and associated specific cytogenetic abnormalities in polycythemia vera (PV). Six hundred and sixty-nine PV patients were informative, of whom 436 (65%) were evaluated within 1 year of diagnosis. Karyotype abnormalities were found in 67 (15%) patients, including isolated abnormalities of loss of Y chromosome (-Y; N=15; 3%), +9 (N=11; 3%), del(20q) (N=10; 2%), and +8 (N=4; 1%). Abnormal karyotype correlated with older age (P<0.01), lower platelet count (P<0.01), and grade ≥2 reticulin fibrosis (P<0.01). Specifically, del(20q) correlated with older age and grade ≥2 reticulin fibrosis, while +9 correlated with a higher incidence of a history of venous thrombosis. SRSF2 and IDH2 mutations clustered with normal karyotype. At a median follow-up of 7.4 years, 163 (37%) deaths, 50 (11%) cases of fibrotic transformation (post-PV MF) and 14 (3%) cases of leukemic transformation (LT) were documented. In univariate analysis, abnormal karyotype was associated with inferior overall survival (median 10.5 vs. 16.3 years; P<0.01); the statistical significance of this association was sustained in multivariable analysis (hazard ratio=2.0; P=0.02), along with associations with age ≥60 years (P<0.01), leukocytosis ≥15×109/L (P<0.01) and SRSF2 mutation (P<0.01). Abnormal karyotype was also associated with post-PV MF (21% vs. 10%; P<0.01) and LT (7% vs. 2%; P<0.01); the statistical significance of this association was sustained in multivariable analysis for post-PV MF (hazard ratio=3.7; P<0.01), but not for LT (P=0.47). In regard to specific abnormalities, del(20q) was associated with progression to post-PV MF and ≥2 abnormalities with LT. The current study describes the spectrum of cytogenetic abnormalities in PV and their associated phenotypic and prognostic correlates.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2091-2101"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718799","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}

{"title":"Early identification of functional high-risk multiple myeloma patients after transplant: the predictive power of fat fraction and Response Assessment Category score in diffusion-weighted whole-body magnetic resonance imaging.","authors":"Angelo Belotti, Barbara Frittoli, Sofia Terlizzi, Rossella Ribolla, Claudia Crippa, Chiara Saeli, Samantha Ferrari, Nicola Bianchetti, Chiara Bottelli, Chiara Cattaneo, Carmela Carbone, Alessandro Gullino, Marco Chiarini, Viviana Giustini, Aldo Roccaro, Luigi Grazioli, Alessandra Tucci","doi":"10.3324/haematol.2025.287409","DOIUrl":"10.3324/haematol.2025.287409","url":null,"abstract":"<p><p>Functional high-risk (FHR) multiple myeloma (MM) patients, defined as those with early relapse despite optimal initial therapy, represent an unmet clinical need. Diffusion-weighted whole-body MRI (DW-MRI) is increasingly used in MM management due to its high sensitivity in assessing treatment response. The Myeloma Response Assessment and Diagnosis System (MYRADS) established the Response Assessment Category (RAC), a 5-point scale ranging from complete response (RAC 1) to progressive disease (RAC 5), which independently stratifies patients with different outcomes after autologous stem cell transplantation (ASCT). The relative fat fraction (rFF), derived from DW-MRI, provides additional prognostic insights into bone marrow composition. This study aimed to evaluate whether the combined assessment of RAC and rFF could identify FHR MM patients at risk of early relapse, defined as progression within 18 months post-autologous stem cell transplantation (ASCT). Ninety-seven MM patients were retrospectively analyzed after ASCT, before maintenance, with a median follow-up of 47 months. An rFF threshold of 17.2% predicted early relapse with 83% sensitivity and 85% specificity. Patients with rFF >17.2% had significantly improved post-ASCT progression-free survival (PFS, median not reached [NR] vs. 13.7 months, HR 0.18; 95% CI: 0.08-0.43) and overall survival (OS, 3-year rate: 96% vs. 62%, HR 0.12; 95% CI: 0.03-0.45) compared to rFF ≤17.2%. Patients with RAC 1/rFF High had the best outcomes, while RAC ≥2/rFF Low had the worst prognosis (median PFS: NR vs. 12.3 months, HR 0.21; 95% CI: 0.07-0.62). rFF complements RAC for response assessment after ASCT, enabling early identification of FHR patients with poor prognosis.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2151-2159"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772234","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}

{"title":"Novel classification system and high-risk categories of pediatric acute myeloid leukemia.","authors":"Masayuki Umeda, Yen-Chun Liu, Seth E Karol, Jeffery M Klco","doi":"10.3324/haematol.2024.285644","DOIUrl":"10.3324/haematol.2024.285644","url":null,"abstract":"<p><p>The prognosis of pediatric acute myeloid leukemia (AML) remains poor compared with pediatric acute lymphoblastic leukemia (ALL); accurate diagnosis and treatment strategies based on the genomic background are urgently needed. Recent advances in sequencing technologies have identified novel pediatric AML subtypes, including BCL11B structural variants and UBTF tandem duplications (UBTF-TD), associated with poor prognosis. In contrast, these novel subtypes do not fit into the diagnostic systems for AML of the 5th edition WHO classification or International Consensus Classifications (ICC) released in 2022. In this review, we describe the current state of pediatric AML classification in the context of a new classification framework based on the findings of updated genomic profiling. Molecular categories in the new classification system are associated with unique transcriptional, mutational, and clinical characteristics, which can be leveraged for predicting clinical outcomes and developing molecular-target therapies based on the initiating driver alterations. We also highlight four high-risk subtypes of pediatric AML, namely CBFA2T3::GLIS2, BCL11B, UBTF-TD, and ETS family fusions, focusing on their disease mechanisms, clinical associations, and possible therapeutic strategies to overcome the dismal clinical outcomes associated with these alterations.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"1962-1973"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142947737","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}

{"title":"Clonal hematopoiesis is common in bone marrow of patients with classical Hodgkin lymphoma.","authors":"Rebeca Iglesias, Eva Díaz, Sara Fernández, Marta Miguélez, María De Rosa Torres, Mirna L Domínguez, José L Solórzano, Mónica Estévez, Raquel Oña, Alejandro M Bobes, Carlos Montalbán, Adolfo De la Fuente, Juan F García","doi":"10.3324/haematol.2024.286579","DOIUrl":"10.3324/haematol.2024.286579","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2176-2180"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663265","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}

{"title":"Impact of hematopoietic cell transplantation and quizartinib in newly diagnosed patients with acute myeloid leukemia and FMS-like tyrosine kinase 3-internal tandem duplications in the QuANTUM-First trial.","authors":"Richard F Schlenk, Pau Montesinos, Hee-Je Kim, Antonio Romero-Aguilar, Radovan Vrhovac, Elżbieta Patkowska, Pavel Žak, Po-Nan Wang, James Hanyok, Li Liu, Yasser Mostafa Kamel, Karima Imadalou, Arnaud Lesegretain, Jorge Cortes, Mikkael A Sekeres, Herve Dombret, Sergio Amadori, Jianxiang Wang, Alexander E Perl, Mark J Levis, Harry P Erba","doi":"10.3324/haematol.2024.286623","DOIUrl":"10.3324/haematol.2024.286623","url":null,"abstract":"<p><p>QuANTUM-First (ClinicalTrials.gov identifier: NCT02668653) was a randomized phase III trial in patients with newly diagnosed FLT3-internal tandem duplication (ITD)-positive acute myeloid leukemia (AML) treated with quizartinib or placebo plus standard induction and consolidation chemotherapy and/or allogeneic hematopoietic cell transplantation (allo-HCT), followed by single-agent maintenance therapy. We evaluated the impact of allo-HCT performed in first complete remission (CR1) or composite CR1 (CRc1) on overall survival (OS), considering treatment randomization. Post-hoc extended Cox regression multivariable analyses were conducted in patients who achieved complete remission/composite complete remission by the end of induction, including allo-HCT in CR1/CRc1 as a time-dependent variable to identify prognostic and predictive factors for OS. There were 297 patients with complete remission by the end of induction (quizartinib, N=147; placebo, N=150); of these, 157 (52.9%) underwent allo-HCT in CR1 (quizartinib, N=84; placebo, N=73). There were 368 patients with composite complete remission by the end of induction (quizartinib, N=192; placebo, N=176); of these, 196 (53.3%) underwent allo-HCT in CRc1 (quizartinib, N=110; placebo, N=86). Multivariable analyses revealed quizartinib treatment and allo-HCT in either CR1 (hazard ratio [HR]=0.553, 95% confidence interval [95% CI]: 0.383-0.798, P=0.0015 and HR=0.527, 95% CI: 0.349-0.796, P=0.0023, respectively) or CRc1 (HR=0.645, 95% CI: 0.470‒0.886, P=0.0068 and HR=0.557, 95% CI: 0.391-0.793, P=0.0012, respectively) as significant predictive factors for a longer OS. No new safety signals were identified. Patients who underwent protocol-specified allo-HCT in CR1/CRc1 experienced post-transplant-related complications, mostly grade ≥2 graft-versus-host disease, as expected. This post-hoc analysis further supports the use of quizartinib and allo-HCT in CR1/CRc1 as an efficacious and well-tolerated treatment strategy for newly diagnosed FLT3-ITD-positive AML patients fit for intensive chemotherapy.</p>","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2024-2039"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614723","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}

{"title":"Doubling in median survival in patients diagnosed with multiple myeloma 2005-2019; a real-world study from the UK's Haematological Malignancy Research Network.","authors":"Alexandra Smith, Timothy Bagguley, Eve Roman, Simon Crouch, Russell Patmore, Ruth De Tute, Andy Rawstron, Gordon Cook, Frances Seymour, Christopher Parrish","doi":"10.3324/haematol.2024.287095","DOIUrl":"10.3324/haematol.2024.287095","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2203-2208"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663310","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}

{"title":"Leukemic presentation in nodal mantle cell lymphoma is characterized by frequent SOX11 negativity, a poor risk genomic landscape including higher TP53 alterations, and worse overall survival.","authors":"Mingfei Yan, Shenon Sethi, Jyoti Kumar, Anita Kumar, Ahmet Dogan, Pallavi Galera","doi":"10.3324/haematol.2024.287108","DOIUrl":"10.3324/haematol.2024.287108","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2209-2213"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614724","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}

{"title":"Venetoclax combined with escalating doses of homoharringtonine, low-dose cytarabine, and granulocyte colony-stimulating factor demonstrates feasibility and tolerability for remission induction in pediatric acute myeloid leukemia.","authors":"Shengqin Cheng, Li Gao, Jun Lu, Yixin Hu, Yi Wang, Hailong He, Jie Li, Suxiang Liu, Feiyun Yang, Xiaofang Wu, Liyan Fan, Junjie Fan, Yanhua Yao, Yina Sun, Bohan Li, Yongping Zhang, Shuiyan Wu, Cheng Cheng, Peifang Xiao, Raul C Ribeiro, Hu Shaoyan","doi":"10.3324/haematol.2024.286832","DOIUrl":"10.3324/haematol.2024.286832","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2193-2197"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566858","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}

{"title":"Broadening the differential diagnosis associated with germline <i>DDX41</i> mutations.","authors":"Rafael Bejar","doi":"10.3324/haematol.2025.287490","DOIUrl":"10.3324/haematol.2025.287490","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"1906-1908"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173697","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}

{"title":"Dissecting CD47 expression in lymphoid neoplasms to inform precision immunotherapy with anti-CD47 phagocytic checkpoint blockade.","authors":"Andrea Marra, Alan Ramsay, Samuel Chamberlain-Keene, Gabriela Soares, Maurilio Ponzoni, Sugerdana Padmasri, Manuel Rodriguez-Justo, Sabine Pomplun, Ian Proctor, Anna Childerhouse, Alsharabati Muntasser, Mario Cioce, Vito Michele Fazio, German Ott, Miguel Piris, Brunangelo Falini, Teresa Marafioti","doi":"10.3324/haematol.2024.286864","DOIUrl":"10.3324/haematol.2024.286864","url":null,"abstract":"","PeriodicalId":12964,"journal":{"name":"Haematologica","volume":" ","pages":"2198-2202"},"PeriodicalIF":7.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663288","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}