British Journal of Haematology最新文献

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Greater prevalence of anaemia and heavy menstrual bleeding reported in women of reproductive age in the United Kingdom compared to Australia 与澳大利亚相比,英国育龄妇女贫血和月经大出血的发生率更高。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-09 DOI: 10.1111/bjh.20075
Beth MacLean, Jess Fuller, Jayne Lim, Cory Dugan, Toby Richards
{"title":"Greater prevalence of anaemia and heavy menstrual bleeding reported in women of reproductive age in the United Kingdom compared to Australia","authors":"Beth MacLean,&nbsp;Jess Fuller,&nbsp;Jayne Lim,&nbsp;Cory Dugan,&nbsp;Toby Richards","doi":"10.1111/bjh.20075","DOIUrl":"10.1111/bjh.20075","url":null,"abstract":"<p>Heavy periods are a common cause of anaemia in women of reproductive age. We compare the prevalence of anaemia and heavy menstrual bleeding (HMB) among women in the United Kingdom and Australia. Women aged 15–50 years were recruited through screening events conducted in the United Kingdom and Australia from 2016 to 2024. In these cross-sectional studies, self-report questionnaires screened for HMB and finger prick haemoglobin concentration (Hb) identified anaemia (Hb &lt; 120 g/L). Of 1937 women (United Kingdom = 333, Australia = 1604), the mean age was 28.5 ± 9.2 years and 33.7% reported HMB. In the United Kingdom, the mean Hb was 129.2 ± 12.0 g/L and 19.2% were anaemic, of which 59.4% had HMB. In Australia, the mean Hb was higher (134.4 ± 12.2 g/L; <i>p</i> &lt; 0.001), with fewer women being anaemic (9.7%; <i>p</i> &lt; 0.001), and fewer anaemic women had HMB (30.3%; <i>p</i> &lt; 0.001). Logistic regression analysis found that women in the United Kingdom were at a greater risk of being anaemic (AOR: 2.144; 95%CI:1.545, 2.946; <i>p</i> &lt; 0.001). HMB was more common in the United Kingdom (45.9% vs. 31.2%; <i>p</i> &lt; 0.001). In Australia, 24.7% (299/1211) reported receiving intravenous iron; while those with prior intravenous iron treatment were less likely to be anaemic (AOR: 0.616; 95%CI: 0.372, 0.982; <i>p</i> = 0.0496). Women in the United Kingdom are more likely to have anaemia and HMB than women in Australia, with HMB presenting a greater risk for anaemia development in the United Kingdom.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 5","pages":"1479-1484"},"PeriodicalIF":5.1,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.20075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810243","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}
引用次数: 0
Hypomethylating agent and venetoclax are effective salvage therapies in relapsed/refractory early T-cell precursor acute lymphoblastic leukaemia. 低甲基化剂和venetoclax是复发/难治性早期t细胞前体急性淋巴细胞白血病的有效挽救疗法。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-09 DOI: 10.1111/bjh.20065
Vaibhav Agrawal, Shukaib Arslan, Hoda Pourhassan, Paul Koller, Ibrahim Aldoss, Vinod Pullarkat
{"title":"Hypomethylating agent and venetoclax are effective salvage therapies in relapsed/refractory early T-cell precursor acute lymphoblastic leukaemia.","authors":"Vaibhav Agrawal, Shukaib Arslan, Hoda Pourhassan, Paul Koller, Ibrahim Aldoss, Vinod Pullarkat","doi":"10.1111/bjh.20065","DOIUrl":"https://doi.org/10.1111/bjh.20065","url":null,"abstract":"<p><p>Early T-cell precursor acute lymphoblastic leukaemia (ETP-ALL) is a distinct biological subtype of T-ALL and is associated with poor clinical outcomes due to the lack of effective salvage regimens that can induce remission and bridge patients to allogeneic stem cell transplantation. Targeting antiapoptotic BCL-2 family proteins has demonstrated therapeutic efficacy in ETP-ALL with agents such as venetoclax. We present a case series of five adult patients with relapsed or refractory (R/R) ETP-ALL who were treated with a hypomethylating agent (HMA) in combination with venetoclax (HMA-VEN) and demonstrate that this therapy is efficacious and can bridge responders to allogeneic stem cell transplantation with curative intent.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957404","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}
引用次数: 0
The mechanism of EZH2/H3K27me3 downregulating CXCL10 to affect CD8+ T cell exhaustion to participate in the transformation from myelodysplastic syndrome to acute myeloid leukaemia EZH2/H3K27me3下调CXCL10影响CD8+ T细胞衰竭参与骨髓增生异常综合征向急性髓系白血病转变的机制
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-09 DOI: 10.1111/bjh.20066
Zhuanzhen Zheng, Wenjing Wang, Mengjing Feng, Xiuhua Chen, Fanggang Ren, Yanfei Hou
{"title":"The mechanism of EZH2/H3K27me3 downregulating CXCL10 to affect CD8+ T cell exhaustion to participate in the transformation from myelodysplastic syndrome to acute myeloid leukaemia","authors":"Zhuanzhen Zheng,&nbsp;Wenjing Wang,&nbsp;Mengjing Feng,&nbsp;Xiuhua Chen,&nbsp;Fanggang Ren,&nbsp;Yanfei Hou","doi":"10.1111/bjh.20066","DOIUrl":"10.1111/bjh.20066","url":null,"abstract":"<div>\u0000 \u0000 <p>Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) link to unfavourable prognoses. We explored the mechanism of enhancer of zeste homologue 2/histone H3 of lysine 27 (EZH2/H3K27me3) downregulating C-X-C motif chemokine 10 (CXCL10) to affect CD8<sup>+</sup> T-cell exhaustion, participating in MDS-to-AML transformation. NHD13 mice were treated with GSK126 (EZH2 inhibitor) and CXCL10 neutralizing antibody, with transformation time, blood cell counts and CD8<sup>+</sup> T cell determined. SKM-1 cells treated with short hairpin-<i>EZH2</i>, overexpressing-<i>EZH2</i>, GSK126 and CXCL10 were co-cultured with CD8<sup>+</sup> T cells. EZH2, CXCL10, H3K27me3 and EZH2 levels and EZH2 enzyme activity were assessed. CD8<sup>+</sup> T-cell cytotoxicity, exhaustion, apoptosis and SKM-1 cell malignant behaviours were evaluated. In vivo, EZH2 inhibition upregulated CXCL10, decelerating MDS to AML transformation and delaying CD8<sup>+</sup> T-cell exhaustion. EZH2 inhibition elevated peripheral blood cells, alleviated splenomegaly, reduced CD8<sup>+</sup> T cells, elevated CD8<sup>+</sup> T cytotoxicity and abated CD8<sup>+</sup> T-cell exhaustion in NHD13 mice. CXCL10 neutralizing antibody accelerated AML transformation by inhibiting CD8<sup>+</sup> T-cell exhaustion via EZH2. In vitro, EZH2 overexpression facilitated CD8<sup>+</sup> T-cell exhaustion and SKM-1 cell malignant behaviours. EZH2-mediated H3K27me3 curbed CXCL10 transcription and secretion. Collectively, EZH2/H3K27me3 downregulates CXCL10 to facilitate CD8<sup>+</sup> T-cell exhaustion, accelerating transformation from MDS to AML.</p>\u0000 </div>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 5","pages":"1335-1349"},"PeriodicalIF":5.1,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810252","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}
引用次数: 0
Myeloid neoplasm inspired intensive therapy in VEXAS syndrome: A single-centre experience. 髓系肿瘤激发强化治疗在VEXAS综合征:单中心经验。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-08 DOI: 10.1111/bjh.20067
Maël Heiblig, Adriana Plesa, Juliet Tantot, Yvan Jamilloux, Hélène Labussière-Wallet, Pierre Sujobert
{"title":"Myeloid neoplasm inspired intensive therapy in VEXAS syndrome: A single-centre experience.","authors":"Maël Heiblig, Adriana Plesa, Juliet Tantot, Yvan Jamilloux, Hélène Labussière-Wallet, Pierre Sujobert","doi":"10.1111/bjh.20067","DOIUrl":"https://doi.org/10.1111/bjh.20067","url":null,"abstract":"<p><p>There is still no standard of care and unmet medical needs in refractory/advanced VEXAS (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X-linked, autoinflammatory manifestations and somatic) syndrome with or without associated haematological neoplasm. We report the clinical outcome of four multirefractory/advanced VEXAS patients treated with acute myeloid leukaemia-like therapeutic approaches. All patients responded to inflammatory/haematological VEXAS-related features, which were associated with measurable residual disease response (partial or complete). Prospective studies evaluating new and effective therapeutic strategies in order to reduce clonal burden in VEXAS patients are warranted.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143801975","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}
引用次数: 0
Prognostic impacts of RHOA G17V mutation in cell-free DNA assessed by droplet digital polymerase chain reaction in patients with angioimmunoblastic T-cell lymphoma. 微滴数字聚合酶链反应评估血管免疫母细胞淋巴瘤患者无细胞DNA RHOA G17V突变对预后的影响
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-07 DOI: 10.1111/bjh.20071
Yi Miao, Siqi Qian, Ling Gao, Ziyuan Zhou, Luomengjia Dai, Yeqin Sha, Xiao Lu, Yi Xia, Lei Cao, Shuchao Qin, Lei Fan, Jianyong Li, Huayuan Zhu
{"title":"Prognostic impacts of RHOA G17V mutation in cell-free DNA assessed by droplet digital polymerase chain reaction in patients with angioimmunoblastic T-cell lymphoma.","authors":"Yi Miao, Siqi Qian, Ling Gao, Ziyuan Zhou, Luomengjia Dai, Yeqin Sha, Xiao Lu, Yi Xia, Lei Cao, Shuchao Qin, Lei Fan, Jianyong Li, Huayuan Zhu","doi":"10.1111/bjh.20071","DOIUrl":"https://doi.org/10.1111/bjh.20071","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802043","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}
引用次数: 0
First cases of danicopan use in adolescent patients with paroxysmal nocturnal haemoglobinuria. 首例达尼可潘用于青少年阵发性夜间血红蛋白尿患者。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-06 DOI: 10.1111/bjh.20073
Matthew Holt, Richard Kelly, Samantha Hughes, Talha Munir, Abraham Varghese, Sateesh Nagumantry, Louise Arnold, Petra Muus, Morag Griffin
{"title":"First cases of danicopan use in adolescent patients with paroxysmal nocturnal haemoglobinuria.","authors":"Matthew Holt, Richard Kelly, Samantha Hughes, Talha Munir, Abraham Varghese, Sateesh Nagumantry, Louise Arnold, Petra Muus, Morag Griffin","doi":"10.1111/bjh.20073","DOIUrl":"https://doi.org/10.1111/bjh.20073","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794160","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}
引用次数: 0
A chemotherapy-free regimen of acalabrutinib, umbralisib and ublituximab achieved high response rates and undetectable minimal residual disease in patients with untreated mantle cell lymphoma 阿卡拉布替尼、umbralisib和ublituximab的无化疗方案在未经治疗的套细胞淋巴瘤患者中获得了高缓解率和检测不到的微小残留疾病。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-02 DOI: 10.1111/bjh.20041
Paolo Lopedote, Geoffrey Shouse, Sandrine Puverel, Alexandra Muir, Carly Roleder, Peter Sportelli, Hari Miskin, Lu Chen, Tycel J. Phillips, Alexey V. Danilov
{"title":"A chemotherapy-free regimen of acalabrutinib, umbralisib and ublituximab achieved high response rates and undetectable minimal residual disease in patients with untreated mantle cell lymphoma","authors":"Paolo Lopedote,&nbsp;Geoffrey Shouse,&nbsp;Sandrine Puverel,&nbsp;Alexandra Muir,&nbsp;Carly Roleder,&nbsp;Peter Sportelli,&nbsp;Hari Miskin,&nbsp;Lu Chen,&nbsp;Tycel J. Phillips,&nbsp;Alexey V. Danilov","doi":"10.1111/bjh.20041","DOIUrl":"10.1111/bjh.20041","url":null,"abstract":"","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 5","pages":"1497-1501"},"PeriodicalIF":5.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771068","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}
引用次数: 0
Bendamustine supercharge plus brentuximab vedotin as early salvage therapy following failure to obtain complete metabolic remission after two cycles of adriamycin–bleomycin–vinblastine–dacarbazine for classic Hodgkin lymphoma in patients aged ≤ 60 years: Long-term efficacy results of a retrospective multicentre study 对于年龄≤60岁的经典霍奇金淋巴瘤患者,阿霉素-博莱霉素-长春花碱-达卡巴嗪两个周期治疗后未能获得完全代谢缓解,苯达莫司汀增压加布伦妥昔单抗韦多汀作为早期补救性治疗:一项回顾性多中心研究的长期疗效结果
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-04-02 DOI: 10.1111/bjh.20053
C. Giordano, M. Picardi, N. Pugliese, A. Vincenzi, S. Avilia, L. De Fazio, M. Lamagna, R. Reina, A. Scarpa, A. Lombardi, E. Vigliar, G. Troncone, M. Mascolo, C. Mainolfi, R. Fonti, S. Del Vecchio, V. Damiano, R. Bianco, F. Trastulli, M. Annunziata, A. Salemme, M. Carchia, F. Pane
{"title":"Bendamustine supercharge plus brentuximab vedotin as early salvage therapy following failure to obtain complete metabolic remission after two cycles of adriamycin–bleomycin–vinblastine–dacarbazine for classic Hodgkin lymphoma in patients aged ≤ 60 years: Long-term efficacy results of a retrospective multicentre study","authors":"C. Giordano,&nbsp;M. Picardi,&nbsp;N. Pugliese,&nbsp;A. Vincenzi,&nbsp;S. Avilia,&nbsp;L. De Fazio,&nbsp;M. Lamagna,&nbsp;R. Reina,&nbsp;A. Scarpa,&nbsp;A. Lombardi,&nbsp;E. Vigliar,&nbsp;G. Troncone,&nbsp;M. Mascolo,&nbsp;C. Mainolfi,&nbsp;R. Fonti,&nbsp;S. Del Vecchio,&nbsp;V. Damiano,&nbsp;R. Bianco,&nbsp;F. Trastulli,&nbsp;M. Annunziata,&nbsp;A. Salemme,&nbsp;M. Carchia,&nbsp;F. Pane","doi":"10.1111/bjh.20053","DOIUrl":"10.1111/bjh.20053","url":null,"abstract":"&lt;p&gt;\u0000 &lt;b&gt;To the editor,&lt;/b&gt;\u0000 &lt;/p&gt;&lt;p&gt;Treatment intensification with salvage therapy, high-dose chemotherapy (HDT) and autologous stem cell transplantation (ASCT) is the best course of action for patients ≤60 years with classic Hodgkin lymphoma (c-HL) failing to obtain complete metabolic remission (CMR) to adriamycin–bleomycin–vinblastine–dacarbazine (ABVD). However, its clinical impact in patients showing &lt;i&gt;interim&lt;/i&gt; 2-deoxy-2[F-18] fluoro-D-glucose positron emission tomography (&lt;i&gt;i&lt;/i&gt;-FDG-PET) positive scans after only two cycles remains to be confirmed.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; In these patients with primary chemo-refractory illness, the prognosis is dismal with disease progression within 12 months from ASCT; the reported 2-year progression-free survival (PFS) reaches the rates of 28%–66% following conventional salvage regimens.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; Thus, optimizing the results of salvage regimens before ASCT is still essential to provide the best chance of recovery for most patients with refractory c-HL.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; The combination of bendamustine (B) at 90 mg/m&lt;sup&gt;2&lt;/sup&gt; iv on days 1–2 and brentuximab vedotin (Bv) at 1.8 mg/kg iv on day 1 of a 21-day cycle has been investigated, and clinical trials with cohorts of refractory/relapsed patients showed a manageable toxicity profile and an overall response rate (ORR) of 80% (average CMR, 70%) following a median of four cycles.&lt;span&gt;&lt;sup&gt;3-5&lt;/sup&gt;&lt;/span&gt; Follow-up data tempered the expectations: pooled 2-year PFS rate of about 50%. Emerging in vitro data allowed the speculation that high-dose B, administered right after Bv, facilitated the anti-CD30–auristatin conjugates pharmacodynamics and thus targeted delivery of anticancer therapeutics.&lt;span&gt;&lt;sup&gt;6-8&lt;/sup&gt;&lt;/span&gt; Phase II and real-life studies in this setting presented convincing evidence that an increasing dosage of B held promising anticancer activity with no dose-limiting toxicity.&lt;span&gt;&lt;sup&gt;9-12&lt;/sup&gt;&lt;/span&gt; Thus, a compelling case is presented for using early treatment intensification with bendamustine supercharge (Bs) that maximizes the synergistic effects with Bv and raises the remission rates obtained with either drug in the pre-ASCT setting after failure of front-line ABVD. Therefore, we undertook a multicentre retrospective study involving large southern Italy tertiary centres with long-standing experience in HL cure: the Hematology Unit of the Federico II University, Oncology Unit of the Federico II University Medical School of Naples and Hematology Unit of the Antonio Cardarelli Hospital of National Importance in Naples, Italy.&lt;/p&gt;&lt;p&gt;We acquired consistent information about a selected population of patients aged ≥18 and ≤60 years with c-HL and positive FDG-PET scans following two courses of ABVD from 1 September 2013 to 1 September 2023 (view study design and inclusion criteria in the Data S1). The sequential combination (every 3 weeks) of Bv standard dose and Bs, named ‘Bv + Bs&lt;su","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 5","pages":"1502-1507"},"PeriodicalIF":5.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.20053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771069","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}
引用次数: 0
RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia rna测序:揭示儿童B-other急性淋巴细胞白血病转录景观的可靠工具。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-03-30 DOI: 10.1111/bjh.20056
Clara Vicente-Garcés, Guerau Fernández, Elena Esperanza-Cebollada, Mercè Richarte-Franqués, Alba Crespo-Carrasco, Sara Montesdeoca, Ignacio Isola, Edurne Sarrate, Esther Cuatrecasas, Susana Rives, José Luis Dapena, Mireia Camós, Nerea Vega-García
{"title":"RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia","authors":"Clara Vicente-Garcés,&nbsp;Guerau Fernández,&nbsp;Elena Esperanza-Cebollada,&nbsp;Mercè Richarte-Franqués,&nbsp;Alba Crespo-Carrasco,&nbsp;Sara Montesdeoca,&nbsp;Ignacio Isola,&nbsp;Edurne Sarrate,&nbsp;Esther Cuatrecasas,&nbsp;Susana Rives,&nbsp;José Luis Dapena,&nbsp;Mireia Camós,&nbsp;Nerea Vega-García","doi":"10.1111/bjh.20056","DOIUrl":"10.1111/bjh.20056","url":null,"abstract":"<p>B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) comprises multiple subtypes characterized by different genetic alterations. With the use of current standard-of-care tests used in clinical practice, 20%–30% of the cases may not be classified into the main genetic subtypes and additional approaches are needed. These patients are grouped in the heterogeneous category B-other ALL. Transcriptome sequencing (RNA-seq) has allowed the identification of novel fusion genes and gene expression profiles that define new molecular subtypes. We present RNA-seq results integrated, in a real-world scenario, with clinical routine diagnostic data to identify new biomarkers and reclassify a cohort of 60 B-other ALL patients in the newly described genetic subtypes. Overall, 49 rearrangements were identified, including 32 different fusion genes in 41 B-other patients (68%). Moreover, we reported six novel rearrangements (<i>IGK::PAX5</i>, <i>PAX5::IL1RAPL1</i>, <i>ETV6::KRT78</i>, <i>IGH::HIC1</i>, <i>IGH::MIR100HG</i> and <i>NKAIN4::PNPLA7</i>). The integration of RNA-seq results with standard-of-care data allowed us to classify 72% of the patients (43/60) in 11 different subtypes, being <i>DUX4</i> rearranged and <i>PAX5</i>alt the most represented subtypes. In summary, RNA-seq is a reliable tool for the identification of new emerging genetic subtypes contributing to a better genetic risk stratification of BCP-ALL paediatric patients on the path towards a more personalized medicine.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 5","pages":"1355-1365"},"PeriodicalIF":5.1,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.20056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750423","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}
引用次数: 0
Outcomes of patients with multiple myeloma undergoing autologous transplant with suboptimal pretransplant response. 多发性骨髓瘤自体移植患者移植前反应不佳的结局。
IF 5.1 2区 医学
British Journal of Haematology Pub Date : 2025-03-30 DOI: 10.1111/bjh.20062
Oren Pasvolsky, Muhammad Bilal Abid, Denái R Milton, Mark R Tanner, Qaiser Bashir, Samer Srour, Neeraj Saini, Asiya Jatoi, Hina N Khan, Paul Lin, Jeremy Ramdial, Yago Nieto, Guilin Tang, Umer Siddiqui, Yosra Aljawai, Partow Kebriaei, Hans C Lee, Krina K Patel, Mahmoud R Gaballa, Sheeba K Thomas, Robert Z Orlowski, Richard E Champlin, Elizabeth J Shpall, Muzaffar H Qazilbash
{"title":"Outcomes of patients with multiple myeloma undergoing autologous transplant with suboptimal pretransplant response.","authors":"Oren Pasvolsky, Muhammad Bilal Abid, Denái R Milton, Mark R Tanner, Qaiser Bashir, Samer Srour, Neeraj Saini, Asiya Jatoi, Hina N Khan, Paul Lin, Jeremy Ramdial, Yago Nieto, Guilin Tang, Umer Siddiqui, Yosra Aljawai, Partow Kebriaei, Hans C Lee, Krina K Patel, Mahmoud R Gaballa, Sheeba K Thomas, Robert Z Orlowski, Richard E Champlin, Elizabeth J Shpall, Muzaffar H Qazilbash","doi":"10.1111/bjh.20062","DOIUrl":"https://doi.org/10.1111/bjh.20062","url":null,"abstract":"<p><p>There are scarce data in the literature focusing on newly diagnosed multiple myeloma (NDMM) patients who undergo autologous haematopoietic cell transplantation (autoHCT) after achieving suboptimal response to induction. To address this, we performed a retrospective, single-centre analysis of patients with NDMM who underwent upfront autoHCT between 2005 and 2021 with a pretransplant response of less than very good partial response (<VGPR). Primary outcomes were progression-free survival (PFS) and overall survival (OS). 1109 patients were included in our analysis. Median PFS and OS for the entire cohort were 38.6 (95% confidence interval [CI], 35.9-41.9) months and 103.8 (95% CI, 96.4-113.2) months, respectively. Patients with high-risk cytogenetic abnormalities (HRCA) had a median PFS and OS of 24.8 months and 69.9 months respectively. In multivariable analysis, the use of post-transplant maintenance (hazard ratio [HR] 0.75, p = 0.001 and HR 0.75, p = 0.008) and achieving complete response (CR) at best post-transplant response (HR 0.60, p < 0.001 and HR 0.51, p < 0.001) were associated with superior PFS and OS respectively. In conclusion, NDMM patients who received upfront autoHCT with a pretransplant response of <VGPR had a median PFS of >3 years and median OS of >8 years. Post-transplant maintenance further improved survival outcomes.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143750420","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}
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