EJHaem最新文献

{"title":"Leaky Artemis Deficiency and EBV-Related Lymphoproliferative Disease: A Novel Case and Review of the Literature","authors":"Lucie Roussel,&nbsp;Stephane Bernier,&nbsp;Gertruda Evaristo,&nbsp;Anna Perez,&nbsp;Sanabelle Zaabat,&nbsp;Romina Pace,&nbsp;Yichun Sun,&nbsp;Isabelle Angers,&nbsp;John Storring,&nbsp;Donald C. Vinh","doi":"10.1002/jha2.70026","DOIUrl":"https://doi.org/10.1002/jha2.70026","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Artemis (<i>DCLRE1C</i>) deficiency causes radiosensitive severe combined immunodeficiency (SCID), although hypomorphic cases can manifest later-onset immunodeficiency, autoimmunity, or lymphoproliferation. We report a 45-year-old man with humoral immunodeficiency, opportunistic infections, and recurrent EBV-positive diffuse large B-cell lymphoma (DLBCL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genetic analysis was performed to identify mutations in the <i>DCLRE1C</i> gene. Functional studies, including γH2AX assays to assess DNA damage repair and measurement of Type I interferon responses, were conducted to evaluate the impact of the variant. A literature review was performed to contextualize the findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Biallelic p.Leu70del frameshift mutation in <i>DCLRE1C</i> was identified, leading to significantly decreased mutant protein expression. Functional testing confirmed impaired DNA damage repair, via γH2AX measurement, and elevated Type I interferon responses, indicating cytosolic DNA damage accumulation. A literature review highlighted EBV-positive lymphomas in leaky Artemis deficiency with high mortality rate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our report adds hypomorphic <i>DCLRE1C</i> deficiency as an inborn error of immunity that predisposes to EBV-associated lymphoproliferative disease.</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 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70026","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726843","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":"MYD88-mutated Lymphoplasmacytic Lymphoma With Monoclonal Immunoglobulin G: A Case Report","authors":"Morten Yung Isaksen,&nbsp;Olav Karsten Vintermyr,&nbsp;Håkon Reikvam","doi":"10.1002/jha2.70027","DOIUrl":"https://doi.org/10.1002/jha2.70027","url":null,"abstract":"<p>Lymphoplasmacytic lymphomas (LPL) are usually associated with serum monoclonal immunoglobulin M (IgM). Nevertheless, in some cases, these cells may secrete IgA or IgG monoclonal proteins or remain non-secretory. We report a case from a patient with LPL-secreting IgG who developed anaemia and splenomegaly during the disease course that necessitated treatment with bortezomib, dexamethasone, and rituximab. The case illustrates the need for clinicians and pathologists to consider LPLs as a differential diagnosis also without a serum monoclonal IgM.</p><p><b>Clinical Trial Registration</b>: The authors have confirmed clinical trial registration is not needed for this submission.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707368","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 Striking Case of Light Chain Amyloidosis Visible on Bone Marrow Aspirate Smear","authors":"Adelaide Kwon,&nbsp;Weina Chen","doi":"10.1002/jha2.70028","DOIUrl":"https://doi.org/10.1002/jha2.70028","url":null,"abstract":"&lt;p&gt;Light chain amyloidosis is the most common form of systemic amyloidosis and is often associated with plasma cell neoplasms. Clonal or malignant plasma cells produce excess free immunoglobulin light chains, which leads to protein misfolding, aggregation, and multisystem amyloid deposition, most commonly in antiparallel beta-pleated sheets [&lt;span&gt;1&lt;/span&gt;]. Amyloid deposits can be seen in any tissue but are often found in vessel walls, which are particularly susceptible. Over 60% of bone marrow (BM) biopsies in patients with light chain amyloidosis will demonstrate amyloid deposits in vessel walls or stroma [&lt;span&gt;1&lt;/span&gt;]; however, deposits in the BM aspirate smear are rare.&lt;/p&gt;&lt;p&gt;A 50-year-old male presented with multiorgan imaging abnormalities, biventricular cardiac hypertrophy, and elevated serum lambda light chains (402 mg/L). An endomyocardial biopsy revealed cardiac amyloidosis, with liquid chromatography tandem mass spectrometry (LC/MS) demonstrating AL (lambda)-type amyloid deposition. A BM biopsy was performed for further workup. Peripheral blood (PB) demonstrated mild normocytic anemia (Hgb 12.2 g/dL) and thrombocytosis (platelets 768 × 10&lt;sup&gt;9&lt;/sup&gt;/L). BM aspirate, clot section, and core biopsy showed increased neoplastic plasma cells (∼20%) with cytologic atypia and extensive interstitial and vascular deposition of amorphous material within vessel walls and the interstitium (Figure 1A). Strikingly, these deposits were even visible on the aspirate smear as thick, amorphous, and waxy basophilic globules (Figure 1B). Congo red stains performed on the aspirate smear and core biopsy confirmed these amorphous deposits to be apple-green birefringent under polarized light (Figure 1C,D). Ancillary studies, including flow cytometric immunophenotyping and cytogenetic/FISH studies confirmed an aberrant monotypic lambda-restricted plasma cell population demonstrating gains of Chromosomes 3, 7, 11, 15, 18, 19, and 21; Trisomy 9 and 15; and an extra copy of &lt;i&gt;CCND1&lt;/i&gt; (11q13). The constellation of these findings led to a diagnosis of extensive amyloidosis (AL-lambda type) in the setting of a plasma cell neoplasm. The patient was treated with six cycles of daratumumab, cyclophosphamide, bortezomib, and dexamethasone and underwent autologous stem cell transplant. He is currently on bortezomib maintenance therapy at 35-month follow-up, postdiagnosis.&lt;/p&gt;&lt;p&gt;Amyloid deposits in AL-amyloidosis can be found in any tissue and can lead to organ dysfunction and death, with a major prognostic indicator being the extent of cardiac involvement [&lt;span&gt;1, 2&lt;/span&gt;]. In the BM, deposits are usually identified on core biopsy, most commonly within vessel walls, but also in periosteal areas and within the interstitium. Our case demonstrates very striking, extensive involvement by AL-amyloidosis, with amorphous, and Congo red birefringent amyloid deposits that also visible on aspirate smear. This is a rare and interesting finding with only a few cases reported ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699010","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":"Central Venous Access Device Complications and Premature Removal in Patients With Haematological Malignancies: A Multi-Site Cohort Study","authors":"Kerrie Curtis,&nbsp;Samantha Keogh,&nbsp;Meinir Krishnasamy,&nbsp;Karla Gough","doi":"10.1002/jha2.1090","DOIUrl":"https://doi.org/10.1002/jha2.1090","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Patients with haematological malignancies require urgent and reliable venous access for the administration of systemic anticancer therapies (SACTs) commonly via central venous access devices (CVADs). Disease pathophysiology and side effects of SACTs increase the risk of complications during the dwell time and premature removal. CVAD complications are associated with treatment disruption, increased morbidity and mortality. This study aimed to comprehensively describe CVAD performance over a 12-month period in patients with haematological malignancies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A multi-site cohort study at four tertiary hospitals in Melbourne, Australia was undertaken using multidisciplinary data from patient health records and administrative datasets including patient, device, insertion, maintenance, complication and removal data. Cases of interest were CVADs, ascertained using lists provided by the insertion services.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Findings</h3>\u0000 \u0000 <p>A total of 1078 CVADs were inserted in 673 patients between 1 September 2020 and 31 August 2021. Of the 1078 CVADs, 197 (18%) remained in situ, and 881 (82%) were removed, of which 369 (42%) were removed prematurely due to infection (<i>n</i> = 208, 57%) and non-infection related reasons (<i>n</i> = 201, 54%). Most CVADs (<i>n</i> = 919, 85%) had documented complications during their dwell time and the proportion of premature removals in these CVADs was over two-fold higher than CVADs with no documented complications. Multivariable Cox regression results indicated that CVAD type, urgency of the procedure, concurrent CVADs and insertion technology were associated with an increased risk of premature removal. Clinical variations in insertion and management care throughout the life of a CVAD and current evidence were identified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>An unacceptably high proportion of CVADs had complications documented during the dwell time and were prematurely removed. Inconsistencies in current evidence and clinical practice highlight opportunities to positively impact CVAD outcomes in this cohort.</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 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.1090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143698997","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":"EPYSQLI (SB12; Biosimilar to Reference Eculizumab) in Asian and Non-Asian Patients With Paroxysmal Nocturnal Hemoglobinuria: Subgroup Analysis of a Global Phase III Randomized Controlled Trial","authors":"Jun Ho Jang,&nbsp;Ciprian Tomuleasa,&nbsp;Hanna Oliynyk,&nbsp;Theerin Lanamtieng,&nbsp;Jihye Park,&nbsp;Younsoo Kim,&nbsp;Jinah Jung,&nbsp;Paola Russo,&nbsp;Soo Min Lim,&nbsp;Régis Peffaultde Latour","doi":"10.1002/jha2.70020","DOIUrl":"https://doi.org/10.1002/jha2.70020","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>SB12 demonstrated equivalence to reference eculizumab (ECU) in complement inhibitor-naïve patients with paroxysmal nocturnal hemoglobinuria (PNH) in the previous randomized, double-blind, multi-national, crossover, Phase III study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The scope of this post-hoc study was subgroup analysis by race to compare the efficacy and safety of SB12 and ECU in PNH patients in the Asian and Non-Asian subgroups of the Phase III study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Results including lactate dehydrogenase (LDH), number of units of packed red blood cells and safety as primary and secondary endpoints demonstrated comparable efficacy and safety of SB12 and ECU in Asian and Non-Asian PNH patients, in line with the study results in the overall population. In addition, transfusion avoidance (68.1% for SB12 vs. 72.9% for ECU, <i>p</i>-value of 0.4492) and hemoglobin stabilization (SB12–ECU: 6.3%, 95% confidence interval [CI] [-21.5, 34.1] and SB12–ECU: 2.5%, 95% CI [-24.8, 29.8] using stringent criteria) as post-hoc endpoints were not substantially different between SB12 and ECU treatment groups in the overall population as well as in Asians and Non-Asians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In conclusion, this subgroup analysis by race (Asians and Non-Asians) supports comparable efficacy and safety between SB12 and reference eculizumab in global PNH patients including no difference in transfusion avoidance effect.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689502","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":"High Fluorescent Lymphoid Cell Levels Assessed on Initial Blood Count in Newly Diagnosed Multiple Myeloma Carry Prognostic Significance","authors":"Yasmine Aramon,&nbsp;Andrea Pieragostini,&nbsp;Pierre Jean Francin,&nbsp;Marie Lorraine Chrétien,&nbsp;Ingrid Lafon,&nbsp;Denis Caillot,&nbsp;François Bailly,&nbsp;Jean Noel Bastie,&nbsp;Cédric Rossi,&nbsp;Marc Maynadié,&nbsp;Julien Guy","doi":"10.1002/jha2.1095","DOIUrl":"https://doi.org/10.1002/jha2.1095","url":null,"abstract":"<p>The outcome of multiple myeloma (MM) has tremendously improved over the past decade, due to the development of efficient chemotherapy and mostly immunotherapy. Yet, some patients still display poor responses and outcome. This could be in part related to the presence of peripheral plasma cells, at levels not compatible with a diagnosis of plasma-cell leukaemia. Some recent publications have highlighted the prognostic influence of low levels of such cells which is around 0.1%. Automated blood cell analysers now include fluorescent staining, allowing to identify cells with higher levels or nucleic acids such as activated B-lymphocytes/plasma cells with highly active ribosomal activity related to antibody production. Here, a prospective evaluation of peripheral high fluorescent lymphoid cell (HFLC) levels was carried out on samples from patients with newly diagnosed MM, and data computed with regard to patient evolution. HFLC above a 0.1% threshold were identified as strongly correlated with poorer response in a cohort of 127 patients. The 74 patients with low HFLC had a significantly better PFS both in univariate (<i>p</i> = 0.0017) and multivariate (<i>p</i> = 0.0007) analyses. This simple test provides a significant prognostic value for patients with MM and could eventually lead clinicians to consider more aggressive strategies for patients with peripheral HFLC above 0.1%.</p><p><b>Trial Registration</b>: The authors have confirmed clinical trial registration is not needed for this submission</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.1095","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689500","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":"Beyond Childhood: Adult and Adolescent Sickle Cell Disease and Outcomes in Northern Ghana","authors":"Kwadwo Faka Gyan,&nbsp;Solomon Gyabaah,&nbsp;Eunice Agyeman Ahmed,&nbsp;Lesley Osei,&nbsp;Mohammed Najeeb Naabo,&nbsp;Michael Asiedu Owiredu,&nbsp;Yaw Obeng Opare-Addo,&nbsp;Jessey Mahama Holu,&nbsp;Ohene Kwaku Opare-Sem","doi":"10.1002/jha2.70023","DOIUrl":"https://doi.org/10.1002/jha2.70023","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Adults and adolescents face different barriers to healthcare utilization compared to children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To describe adult and adolescent sickle cell disease (SCD) and outcomes in northern Ghana.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a retrospective cohort study of SCD patients aged 13 years and above, admitted between January 1, 2021 and December 31, 2022 at the Komfo Anokye Teaching Hospital. The data was summarized with descriptive statistics and a multivariate logistics regression analysis was fitted to identify factors independently associated with prolonged hospital stay of more than 4 days.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 326 admissions, 68.9% regularly attended their sickle cell clinics. Approximately 3% of all admissions into the internal medicine ward were due to SCD. Commonest complications observed were painful vaso-occlusive crisis (VOC) (78.1%), infection (51.2%), and hyperhemolysis (24.0%). Presented as adjusted odds ratio (95% CI), the predictors of prolonged hospital stay were: presence of comorbidities, 2.71 [(1.28, 5.97), <i>p</i> = 0.011]; infection, 1.78 [(1.08, 2.94), <i>p</i> = 0.024]; acute chest syndrome, 2.42 [(1.22, 4.970), <i>p</i> = 0.013]; hyperhemolysis, 2.02 [(1.08, 3.80), <i>p</i> = 0.028]; sequestration crisis, 3.80 [(1.50, 11.0), <i>p</i> = 0.008]; and requirement for transfusion, 3.58 [(1.80, 7.36), <i>p</i> &lt; 0.001]. Mortality rate was 2.5%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>SCD and its related complications constitute a significant proportion of all admissions into the adult medical ward. Approximately one in every three Ghanaian adult and adolescent SCD patients does not regularly attend the SCD clinic.</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 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689503","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":"Real World Management of Cytopenias and Infections in Patients With Myelofibrosis Treated With Ruxolitinib","authors":"Liesl A. Butler,&nbsp;Cecily Forsyth,&nbsp;Claire Harrison,&nbsp;Andrew C. Perkins","doi":"10.1002/jha2.70007","DOIUrl":"https://doi.org/10.1002/jha2.70007","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Ruxolitinib was the first JAK2 inhibitor approved for the treatment of primary and secondary myelofibrosis. It is currently used worldwide as first-line therapy for advanced disease (intermediate-2 and high-risk) and is effective in polycythaemia vera (PV) and essential thrombocythaemia (ET), but not funded for this indication in many countries. Ruxolitinib has proven benefits with respect to symptom control, reduction in spleen size and prolongation of survival; however, it rarely induces a substantial reduction in allele burden and never provides a cure. Moreover, there are frequently encountered adverse effects and dosing issues that require careful management to optimise its therapeutic benefit.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>In this case-based review, we use seven informative common clinical scenarios to discuss appropriate investigation and management of cytopenias and infection issues.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We make recommendations based on 15 years of experience in using ruxolitinib and other JAK inhibitors for the treatment of myelofibrosis. We discuss when allogeneic haematopoietic stem cell transplantation (AHSCT) should be considered and some of the currently available alternative JAK inhibitors and trial options when AHSCT is not an option.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689501","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":"Sézary-Like Features in Atypical Vacuolated Cells of Adult T-Cell Leukemia/Lymphoma","authors":"Radu Chiriac,&nbsp;Lucile Baseggio","doi":"10.1002/jha2.70024","DOIUrl":"10.1002/jha2.70024","url":null,"abstract":"&lt;p&gt;A man in his 40s presented with a 2-week history of fatigue, headaches, diffuse abdominal pain, and sweating, without fever. Clinical examination revealed multiple bilateral cervical and inguinal lymphadenopathies, splenomegaly, and a back rash without evidence of papules. Additionally, a whole-body CT scan demonstrated extensive lymphadenopathy above and below the diaphragm, as well as lytic bone lesions in the pelvis.&lt;/p&gt;&lt;p&gt;Laboratory investigations revealed hypercalcemia (3.2 mmol/L), elevated lactate dehydrogenase (2000 U/L), anemia (78 g/L), and leukocytosis (95 × 10⁹/L) with 80% monomorphic atypical lymphoid cells, characterized by folded chromatin nuclei, weakly basophilic cytoplasm, and rare vacuoles (Figure 1A). Additionally, HTLV-1 serology was positive.&lt;/p&gt;&lt;p&gt;Flow cytometry of peripheral blood (Figure 1B, red population) identified a CD4+ T-cell population that had lost surface CD3, with weak CD2, weak CD30, strong CD5, and no CD7 expression. The cells expressed CD25 and were negative for CD26, KIR3DL2, CCR4, and T follicular helper markers (ICOS, CXCR5, PD1). Further, an inguinal lymph node biopsy demonstrating the same phenotypic profile strongly supported the diagnosis of adult T-cell leukemia/lymphoma (ATLL).&lt;/p&gt;&lt;p&gt;Extensive lymphoma infiltration of the bone marrow was observed, with no evidence of central nervous system involvement. Conventional bone marrow karyotyping revealed no chromosomal abnormalities and targeted next-generation sequencing of the lymph node identified mutations in the &lt;i&gt;TP53&lt;/i&gt; (variant allele frequency [VAF] 32%) and &lt;i&gt;PLCG1&lt;/i&gt; (VAF 36%) genes.&lt;/p&gt;&lt;p&gt;After the third cycle of Brentuximab vedotin in combination with cyclophosphamide, doxorubicin, etoposide, and prednisone, there was no clinical, microscopic, or radiographic evidence of disease, according to the adapted Lugano and ATLL staging criteria. In complete remission, a plan for consolidation therapy involving allogeneic stem cell transplantation is currently being pursued.&lt;/p&gt;&lt;p&gt;This case highlights the morphological pleomorphism observed in an acute leukemic presentation of ATLL. While medium to large-sized lymphocytes with multilobulated nuclei, commonly referred to as “flower cells,” are a characteristic feature in the acute form of the disease, the present case presents lymphocytes with convoluted nuclei, a morphology more frequently associated with Sézary syndrome. Furthermore, the identification of documented variants, including chronic lymphocytic leukemia-like morphology and prolymphocytic features, emphasizes the considerable morphological variability inherent to this entity [&lt;span&gt;1, 2&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;In addition to the detection of integrated human T-cell leukemia virus type 1 in isolated lymphoma cells or the presence of anti-human T-cell leukemia virus type 1/2 antibodies in the serum, which serve as imperfect surrogates, ATLL lacks distinct clinical, morphological, immunophenotypic, or molecular characteristics. The variability in ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671760","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":"Clinical Impact of CD19 Expression Assessed by Quantitative PCR in Lymphoma Patients Undergoing CAR-T Therapy","authors":"Rafael Hernani,&nbsp;Laura Ventura,&nbsp;Begoña Heras,&nbsp;Alicia Serrano,&nbsp;Marcos Rivada,&nbsp;Carolina Martínez-Ciarpaglini,&nbsp;Ana Benzaquén,&nbsp;Blanca Ferrer-Lores,&nbsp;Ariadna Pérez,&nbsp;José Luis Piñana,&nbsp;Juan Carlos Hernández-Boluda,&nbsp;Ignacio Arroyo,&nbsp;Paula Amat,&nbsp;Irene Pastor-Galán,&nbsp;María José Remigia,&nbsp;Rosa Goterris,&nbsp;Montse Gómez,&nbsp;Anabel Teruel,&nbsp;Ana Saus,&nbsp;Consejo Ortí,&nbsp;María José Terol,&nbsp;Antonio Ferrández-Izquierdo,&nbsp;Carlos Solano","doi":"10.1002/jha2.70015","DOIUrl":"https://doi.org/10.1002/jha2.70015","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Current guidelines do not mandate CD19 tumor expression assessment before chimeric antigen receptor T-cell (CAR-T) therapy in large B-cell lymphoma (LBCL) patients due to limitations of immunohistochemistry (IHC) or flow cytometry. Quantitative polymerase chain reaction (qPCR) offers a more sensitive alternative for detecting CD19 expression, with the primary advantage that mRNA can be easily extracted from paraffin-embedded tissues.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods &amp; Results</h3>\u0000 \u0000 <p>In our study, we included 51 adult patients with LBCL treated with axicabtagene ciloleucel. Among them, 16 were classified as CD19-negative by IHC; however, qPCR reclassified six (37.5%) as CD19-positive. We then compared the outcomes between consistently CD19-negative (IHC⁻qPCR⁻) and CD19-positive (IHC⁺ and IHC⁻qPCR⁺) patients. CD19-negative cohort showed worse 1-year progression-free survival (15 vs. 45%, <i>p</i> = 0.044) and a trend toward shorter duration of response (29 vs. 55%, <i>p</i> = 0.065). Only one (10%) of the CD19-negative patients remained alive and disease-free at last follow-up (6 months), having previously responded to bridge therapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>If confirmed in a large patient cohort, these findings could form the basis for modifying current patient selection criteria. Consistently negative patients may be suboptimal candidates for anti-CD19 CAR-T therapy. Alternative therapeutic options, such as bispecific antibodies or polatuzumab-based regimens, could be considered for this subset of patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143645725","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}