EJHaem最新文献

{"title":"Balancing the Risk of Cardiotoxicity Outcomes in Treatment Selection for Multiple Myeloma: A Retrospective Multicenter Evaluation of Ixazomib, Lenalidomide, and Dexamethasone (IRd) Versus Carfilzomib, Lenalidomide, and Dexamethasone (KRd)","authors":"Benjamin J. Lee,&nbsp;Michael Sayer,&nbsp;Ali A. Naqvi,&nbsp;Karen T. Mai,&nbsp;Pranav M. Patel,&nbsp;Lisa X. Lee,&nbsp;Aya F. Ozaki","doi":"10.1002/jha2.70038","DOIUrl":"https://doi.org/10.1002/jha2.70038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Carfilzomib use has been extensively associated with cardiovascular toxicity; the risk with ixazomib, a novel oral proteasome inhibitor, is underreported and no large comparative analysis is available.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective cohort study utilizing the TriNetX platform to compare toxicity outcomes among multiple myeloma patients who received lenalidomide, dexamethasone, and ixazomib (IRd) or carfilzomib (KRd).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>After propensity-score-matching 478 patients from each cohort, the onset of new heart failure (HR 0.25; <i>p </i>&lt; 0.001) and arrhythmias (HR 0.57; <i>p</i> = 0.014) at 6 months were significantly lower with IRd while overall survival at 3 years was similar (<i>p</i> = 0.50).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>IRd is associated with a significantly lower risk of cardiac toxicities compared to KRd.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143883873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of Short Saphenous Vein Thrombosis Close to the Saphenopopliteal Junction: A Survey of the Membership of HaemSTAR, British Society for Haemostasis and Thrombosis and VTE Exemplar Centres in the United Kingdom","authors":"Kirollos Salah Kamel,&nbsp;Lucy Wood,&nbsp;Nicola Curry","doi":"10.1002/jha2.70037","DOIUrl":"https://doi.org/10.1002/jha2.70037","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The optimal management of superficial thrombophlebitis (STP) close to the saphenopopliteal junction (SPJ) is not known.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted an online survey of members of the HaemSTAR network, British society of haemostasis and thrombosis and UK VTE exemplar network over a 6-week period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty-three respondents participated in the survey (estimated 22% response rate). Note that 89% of respondents indicated they would manage all STP at the SPJ with anticoagulation, with 70% indicating they would offer 3 months of therapeutic anticoagulation. The most common threshold for instigating anticoagulation was being within 3 cm off the SPJ (68%). Factors most associated with the decision to anticoagulate included previous thrombosis, active malignancy, persistent immobilisation and severe symptoms (with hospitalisation, hyperestrogenaemic states, thrombophilia and recent surgery being additionally identified in the non-treatment group).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Despite lack of evidence, most UK practitioners surveyed offered intermediate to treatment doses of anticoagulation in the case of STP within 3 cm of the SPJ. Further research is needed to assess the validity of this approach.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>The authors have confirmed clinical trial registration is not needed for this submission.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143875551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced Disease Detection of Hairy Cell Leukaemia Through Next-Generation Sequencing Based BRAFV600E and Phased Variant Analysis","authors":"Simon Wu,&nbsp;Tamia Nguyen,&nbsp;Imogen Caldwell,&nbsp;Sally Hunter,&nbsp;Sushmitha Kannan,&nbsp;Camille Santos,&nbsp;Yan Zhuang Yap,&nbsp;Clarissa Wilson,&nbsp;Mayani Rawicki,&nbsp;Constantine S. Tam,&nbsp;Rachel Koldej,&nbsp;David Ritchie,&nbsp;Piers Blombery","doi":"10.1002/jha2.70032","DOIUrl":"https://doi.org/10.1002/jha2.70032","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Longitudinal disease assessment by molecular techniques is not routine in hairy cell leukaemia (HCL). Combining <i>BRAF</i>^V600E and other genomic targets through next-generation sequencing (NGS) with phased variant analysis is a novel approach for disease detection in this setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>BRAF</i>^V600E digital droplet PCR of paired peripheral blood and cell-free DNA (cfDNA) specimens detected residual disease in 15/48 and 6/48 specimens respectively from patients with HCL. NGS testing with phased variant analysis improved disease detection in cfDNA specimens, including those with equivocal <i>BRAF</i>^V600E results by digital droplet PCR.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Through multiple patient-specific genomic targets to improve sensitivity, NGS may potentially improve disease detection in HCL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>The authors have confirmed clinical trial registration is not needed for this submission</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143875553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Very Hairy Case: Marked Leukocytosis in Hairy Cell Leukaemia","authors":"Stephanie Juané Kennedy,&nbsp;Anne-Cecilia van Marle","doi":"10.1002/jha2.70042","DOIUrl":"https://doi.org/10.1002/jha2.70042","url":null,"abstract":"&lt;p&gt;A 72-year-old woman presented with symptomatic anaemia. On clinical examination, she had massive splenomegaly without lymphadenopathy. Her full blood count (FBC) revealed a leukocytosis (white cell count [WCC]: 58.02 × 10&lt;sup&gt;9&lt;/sup&gt;/L) with neutropenia (0.93 × 10&lt;sup&gt;9&lt;/sup&gt;/L), monocytosis (42.82 × 10&lt;sup&gt;9&lt;/sup&gt;/L), haemoglobin of 2.9 g/dL and platelet count of 97 × 10&lt;sup&gt;9&lt;/sup&gt;/L.&lt;/p&gt;&lt;p&gt;Neutrophils and monocytes were virtually absent on peripheral blood microscopy. However, abnormal ‘villous’ lymphocytes were increased (78%). These cells were intermediate in size with abundant pale blue cytoplasm and circumferential villi. Their nuclei had a ground-glass chromatin pattern with inconspicuous nucleoli and were oval or kidney-shaped, with some eccentrically located nuclei (Figure 1).&lt;/p&gt;&lt;p&gt;Multiparameter flow cytometry demonstrated a population of large cells with moderate complexity and bright CD45 expression extending into the ‘monocyte window’. Their immunophenotype was characteristic of hairy cell leukaemia (HCL) with bright expression of pan-B-cell markers CD19, CD20, CD22, CD79b and sIgM, with surface kappa light chain restriction, and ‘villous markers’ CD11c, CD25, CD103 and CD123, as well as CD200 expression.&lt;/p&gt;&lt;p&gt;The patient was referred to a tertiary hospital where further workup confirmed a diagnosis of HCL with detection of the &lt;i&gt;BRAFV600E&lt;/i&gt; mutation. The bone marrow trephine biopsy also demonstrated the typical ‘fried-egg’ appearance. Unfortunately, the patient developed fulminant &lt;i&gt;Clostridioses difficile&lt;/i&gt; infection and demised shortly after admission.&lt;/p&gt;&lt;p&gt;HCL accounts for less than 2% of lymphoid leukaemias [&lt;span&gt;1, 2&lt;/span&gt;]. Leukaemic ‘hairy cells’, although usually sparse, are characteristic (85%) [&lt;span&gt;1, 2&lt;/span&gt;]. In contrast with the other splenic B-cell lymphomas/leukaemias, also referred to as HCL-like disorders, leukocytosis is uncommon, with 65% of classical HCL cases presenting with a WCC of &lt;5 × 10&lt;sup&gt;9&lt;/sup&gt;/L [&lt;span&gt;1-3&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;On the initial peripheral smear review, HCL was not the first on our differential diagnosis for villous lymphocytes. The profound leukocytosis favoured a HCL-like disorder, which includes HCL-variant (HCL-v)/splenic B-cell lymphoma/leukaemia with prominent nucleoli (SBLPN), splenic diffuse red pulp lymphoma (SDRPL) and splenic marginal zone lymphoma (SMZL) [&lt;span&gt;1&lt;/span&gt;]. Furthermore, the initial automated differential WCC demonstrated a monocytosis instead of monocytopenia, which is almost always present in HCL (98%) but not in HCL-like disorders [&lt;span&gt;1, 2&lt;/span&gt;]. A repeat differential WCC count on another FBC haematology analyser revealed a monocytopenia of 0.93 × 10&lt;sup&gt;9&lt;/sup&gt;/L, which was in keeping with the manual differential and multiparameter flow cytometry counts. Some automated FBC haematology analysers may spuriously count ‘hairy cells’ as monocytes [&lt;span&gt;1&lt;/span&gt;]. We discussed these observations in depth in a different publication of this case [","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143875552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prophylactic versus on-demand transfusion in pregnant women with sickle cell disease: A systematic review and meta-analysis of randomised controlled trials","authors":"Denise Menezes Brunetta,&nbsp;Evangelia Vlachodimitropoulou,&nbsp;Nita Prasannan,&nbsp;Paul T. Seed,&nbsp;Eugene Oteng-Ntim","doi":"10.1002/jha2.1086","DOIUrl":"https://doi.org/10.1002/jha2.1086","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Sickle cell disease (SCD) poses significant risks during pregnancy. Transfusions are the only recommended treatment, but there is no strong evidence of its efficacy. The aim of this study was to evaluate prophylactic transfusion on pregnancy outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a systematic review and meta-analysis (PROSPERO-CRD42024510511), using MEDLINE, EMBASE, Cochrane, Web of Science, and Maternity and Infant Care. No date or language restrictions were applied. Inclusion criteria comprised randomised-controlled trials (RCTs) involving SCD pregnancy, comparing maternal and foetal outcomes for prophylactic versus on-demand transfusions. Two independent reviewers performed screening, selection, and data extraction, following PRISMA. Two authors independently assessed certainty and risk-of-bias. Data were pooled using random-effects model. Primary outcomes included mortality, vaso-occlusive crisis (VOC), acute chest syndrome, venous thromboembolism and preterm delivery. The measure of the effect was the unadjusted odds ratio (OR), calculated from numbers of events.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-one studies were identified and two RCTs (106 patients) were included, with uncertain and low risk of bias. Prophylactic transfusions reduced VOC, OR of 0.197 (95% CI 0.08–0.49). However, due to the small number of patients, this meta-analysis was underpowered to evaluate other outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>A larger RCT is needed to comprehensively assess the impact of prophylactic transfusion in SCD pregnancy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.1086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report","authors":"Takeaki Matsunaga,&nbsp;Ken Naganuma,&nbsp;Noriko Tanabe,&nbsp;Yoshiko Mori,&nbsp;Marino Nagata,&nbsp;Shuji Momose,&nbsp;Yasushi Kubota","doi":"10.1002/jha2.1101","DOIUrl":"https://doi.org/10.1002/jha2.1101","url":null,"abstract":"<p>In patients with X-linked agammaglobulinemia (XLA), serum immunoglobulins are almost completely lacking. The prevalence of autoimmune diseases is low in XLA compared with other primary immunodeficiency diseases because antibodies are absent in XLA. Immune thrombocytopenia (ITP) is considered an antibody-mediated disease characterized by increased platelet destruction, and adult-onset ITP in XLA has not been reported in detail. The case of a 29-year-old Japanese man with XLA and ITP is described. The patient was treated with prednisolone and intravenous immunoglobulins, resulting in rapid improvement of thrombocytopenia. Clinicians should consider co-existing ITP when progressive thrombocytopenia is observed in a patient with XLA.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.1101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iron Deficiency Anemia and Ischemic Stroke in Young Adults","authors":"Jahnavi Gollamudi,&nbsp;Sadeer Al-Kindi,&nbsp;Lalitha Nayak","doi":"10.1002/jha2.70008","DOIUrl":"https://doi.org/10.1002/jha2.70008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Iron deficiency anemia (IDA) is the most common cause of anemia and is linked to higher arterial stroke risk in children, but its effect in adults remains unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a retrospective study examining the prevalence of IDA in young adults with and without ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found that the prevalence of IDA was five times higher in patients with ischemic stroke than those without stroke (5% vs. 1.05%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>IDA independently increased the odds of an ischemic stroke by 39% (<i>p</i> &lt; 0.001). Given the global burden of IDA, effective screening strategies are necessary.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143861796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent Bone Marrow Acute Undifferentiated Leukemia and Mediastinal T-Lymphoblastic Lymphoma With Identical SET::NUP214 Fusion and PHF6 and EZH2 Mutations","authors":"Qing Wei,&nbsp;Fatima Z. Jelloul,&nbsp;Sa A. Wang,&nbsp;Guilin Tang,&nbsp;Shaoying Li,&nbsp;Pei Lin,&nbsp;Sanam Loghavi,&nbsp;Huan-You Wang,&nbsp;L. Jeffrey Medeiros,&nbsp;Jie Xu","doi":"10.1002/jha2.70034","DOIUrl":"https://doi.org/10.1002/jha2.70034","url":null,"abstract":"<p>Acute undifferentiated leukemia (AUL) is a rare hematologic malignancy lacking lineage-specific markers. Concurrent, clonally related AUL and T-lymphoblastic lymphoma (T-LBL) has not been reported previously. Here we describe a patient who was diagnosed with AUL in the bone marrow and T-LBL in the mediastinum after a thorough immunophenotyping by flow cytometry and immunohistochemistry. Despite their immunophenotypic differences, the AUL and T-LBL showed identical genetic alterations: <i>SET::NUP214</i> fusion, <i>PHF6</i>, and <i>EZH2</i> mutations. The patient achieved and remained in complete remission after chemotherapy and stem cell transplantation. This case underscores the value of comprehensive immunophenotyping and genetic analysis in rare hematologic malignancies.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70034","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143856900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blasts With Cup-Like Nuclear Morphology: When the First Impression Could Be Misleading","authors":"Délaissée Nyamessameye,&nbsp;Marie Vercruyssen,&nbsp;Danai Poutakidou,&nbsp;Pierre Heimann,&nbsp;Marco Fangazio,&nbsp;Anne-laure Trepant,&nbsp;Hussein Farhat","doi":"10.1002/jha2.70022","DOIUrl":"https://doi.org/10.1002/jha2.70022","url":null,"abstract":"&lt;p&gt;A 53-year-old man was referred to the hematology department for evaluation of newly diagnosed pancytopenia. He was undergoing maintenance therapy with lenalidomide following autologous stem cell transplantation (ASCT) for multiple myeloma (MM), diagnosed 4 years earlier.&lt;/p&gt;&lt;p&gt;Bone marrow aspiration revealed 90% blasts, some with cup-like nuclear morphology, a feature classically associated with certain acute myeloid leukemia (AML) harboring &lt;i&gt;NPM1&lt;/i&gt; and/or &lt;i&gt;FLT3&lt;/i&gt; mutations (Figure 1A, May–Grunwald–Giemsa stain, original magnification ×1000). However, immunophenotyping demonstrated a B-cell precursor acute lymphoblastic leukemia (B-ALL) phenotype. The blasts were CD19+/CD10partial/CD20−/CD22+/CD33+/CD34+/cytoplasmic CD79a+/TdT+/cytoplasmic IgM+/MPO− (Figure 1C). No monoclonal plasma cells were detected, and kappa/lambda light chains were assessed only by flow cytometry, where they were detected in a few polyclonal lymphocytes but not on the blasts.&lt;/p&gt;&lt;p&gt;Molecular analyses identified a complete deletion of the &lt;i&gt;CDKN2A-CDKN2B&lt;/i&gt; locus, with no mutations detected in &lt;i&gt;NPM1&lt;/i&gt; or &lt;i&gt;FLT3&lt;/i&gt;. Cytogenetic testing revealed a normal karyotype, while the patient's initial MM was characterized by hypotriploidy with gains of chromosomes 3, 5, 6, 7, 9, 11, 15, 17, 19, and 20.&lt;/p&gt;&lt;p&gt;Immunohistochemistry (IHC) demonstrated diffuse cytoplasmic IgM positivity (Figure 1B, IHC, original magnification ×1000). This finding could raise a differential diagnosis with Dutcher bodies, which are cytoplasmic immunoglobulin inclusions typically found in plasma cells and mature B cells. However, the diffuse IgM staining pattern observed in our case does not fit with Dutcher bodies, which appear as well-defined, localized inclusions that stain strongly positive. Instead, the perinuclear clearing observed could suggest unstained Golgi zones.&lt;/p&gt;&lt;p&gt;The patient achieved complete remission after 2 months of B-ALL-directed chemotherapy, followed by allogeneic bone marrow transplantation.&lt;/p&gt;&lt;p&gt;Cup-like nuclear morphology has been well-described in AML, particularly in cases with &lt;i&gt;NPM1&lt;/i&gt; and/or &lt;i&gt;FLT3&lt;/i&gt; mutations, but has been rarely reported in B-ALL. Few cases in the literature describe B-ALL with similar nuclear features, including cases associated with &lt;i&gt;IGH::DUX4&lt;/i&gt; fusion, &lt;i&gt;BCR-ABL1&lt;/i&gt; translocation, or &lt;i&gt;t&lt;/i&gt;(4;11) rearrangement. Notably, our case lacked these alterations, suggesting that cup-like nuclear morphology in B-ALL may not be restricted to a single molecular mechanism.&lt;/p&gt;&lt;p&gt;This case also highlights the role of genetic instability in secondary hematologic malignancies. While no shared cytogenetic abnormalities were identified between the initial multiple myeloma and the secondary leukemia, the presence of hypotriploidy in the MM clone and the occurrence of a &lt;i&gt;CDKN2A-CDKN2B&lt;/i&gt; deletion in the B-ALL clone suggest a clonal evolution process.&lt;/p&gt;&lt;p&gt;Lenalidomide exposure and prior ASCT have been associated with an increased risk of se","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143846180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Massive Intramuscular Haematoma Due to Acquired Factor V Deficiency","authors":"Lara Budwig,&nbsp;Varvara Bashkirova,&nbsp;Shital Shah,&nbsp;David Maudgil,&nbsp;Dalia Khan,&nbsp;John Willan","doi":"10.1002/jha2.70030","DOIUrl":"https://doi.org/10.1002/jha2.70030","url":null,"abstract":"&lt;p&gt;A 95-year-old retired bus driver presented with a 4-day history of pain and swelling in the left thigh. There was no history of trauma, infection or medication changes. He had a history of ischaemic stroke, hypertension and diabetes mellitus, he did not drink alcohol in excess, and was previously living independently. His regular medications included clopidogrel, which was stopped on admission. Laboratory tests showed haemoglobin (Hb) of 63 g/L [130–180], prothrombin time (PT) of 68.1s [10.5–14.7] and activated partial thromboplastin time (aPTT) of 209 s [26.4–35.9] with 95% correction on immediate 50/50 mixing studies. Clotting tests had been normal when last tested in 2009. There was no evidence of hepatic dysfunction. Computed tomography of the left thigh (Figure 1 left panel) showed an extensive intramuscular haematoma measuring 28 cm × 10 cm × 10 cm with multiple areas of blushing; there was no evidence of malignancy on full body imaging. Initial management was with fresh frozen plasma (FFP) for a presumed consumptive coagulopathy, along with vitamin K, red cell transfusion and tranexamic acid, however, only minimal improvement in coagulation assays was noted (Figure 1 right panel).&lt;/p&gt;&lt;p&gt;Factor V level (FV), taken after FFP replacement had been initiated, was 1 IU/dL [50–150] with a positive FV inhibitor screen at 0.8 Bethesda Units. Fibrinogen and other clotting factor levels were normal. 1 mg/kg prednisolone was started as first line immunosuppression on day 10.&lt;/p&gt;&lt;p&gt;Despite these interventions, Hb dropped to 55 g/L on day 12 with concern of re-bleeding into the haematoma. Regular platelet transfusions were initiated (since their alpha-granules are rich in FV, potentially delivering this factor to the site of primary haemostasis), and 0.4 g/kg doses of intravenous immunoglobulin (IVIg) were given on days 14 and 17. Unfortunately the patient tested positive for SARS-CoV-2 on day 15 and clinically deteriorated with renal injury, fluid overload and worsening respiratory infection despite antimicrobial therapy. Plasma exchange was proposed to allow time for the immunosuppression to take effect, but the patient declined this. On day 21 the patient became septic with haemodynamic instability, and passed away the following day.&lt;/p&gt;&lt;p&gt;Acquired FV inhibitors are very rare (estimated incidence of 0.02–0.09 per million persons per year). Triggers include bovine thrombin, antibiotics, infection, malignancies and autoimmune conditions, however up to 30% of cases are idiopathic as in this case. FV levels, inhibitor titre and degree of coagulation profile derangement correlate poorly with likelihood and severity of bleeding, therefore, careful clinical assessment is crucial.&lt;/p&gt;&lt;p&gt;The paper was drafted by Lara Budwig, Varvara Bashkirova, John Willan. All authors reviewed, edited, and approved the manuscript for publication. The care of the patient was delivered by all authors, with interpretation of radiology images by DM.&lt;/p&gt;&lt;p&gt;The authors declare ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70030","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143826822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}