Mediterranean Journal of Hematology and Infectious Diseases
https://www.mjhid.org/mjhid
<p style="text-align: justify;">The Mediterranean Journal of Hematology and Infectious Diseases has been founded by Giuseppe Leone, Professor of Hematology at the Catholic University of Rome in 2009, with the collaboration of Prof. Eligio Pizzigallo, Infectivologist, and Luigi Maria Larocca, Pathologist.</p>Università Cattolica Sacro Cuore, Rome, Italyen-USMediterranean Journal of Hematology and Infectious Diseases2035-3006<p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<a href="https://creativecommons.org/licenses/by-nc/4.0" target="_blank" rel="noopener">https://creativecommons.org/licenses/by-nc/4.0</a>) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p> <p><strong>Transfer of Copyright and Permission to Reproduce Parts of Published Papers.</strong> Authors will grant copyright of their articles to the Institute of Hematology, Catholic University, Rome . No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. <strong>Reproductions with commercial intent will require written permission and payment of royalties.</strong></p> <div class="grammarly-disable-indicator"> </div>PLASMABLASTIC LYMPHOMA. A STATE-OF-THE-ART REVIEW (1)
https://www.mjhid.org/mjhid/article/view/5518
<p>The objective of this two-part study is to present current and comprehensive understanding on the diagnosis and management of plasmablastic lymphoma. The first section, as presented in this paper, is on the study of epidemiology, etiology, clinopathological characteristics, differential diagnosis, prognostic variables, and the impact of plasmablastic lymphoma on specific populations.</p> <p>Plasmablastic lymphoma (PBL), a rare and aggressive form of lymphoma. Previous and modern studies have demonstrated a significant association between the human immunodeficiency virus (HIV) and the development of the disease. The limited occurrence of PBL contributes to a lack of comprehensive understanding regarding the molecular mechanisms involved in its etiology. Consequently, the diagnostic procedure for PBL poses a significant difficulty. Among the group of CD20-negative large B-cell lymphomas, PBL can be correctly diagnosed by identifying its exact clinical characteristics, anatomical location, and morphological characteristics. PBL cells do not express CD20 or PAX5 but possess plasmacytic differentiation markers such as CD38, CD138, MUM1/IRF4, Blimp1, and XBP1. PBL must be distinguished from other B-cell malignancies that lack the CD20 marker, including primary effusion lymphoma, anaplastic lymphoma kinase-positive large B-cell lymphoma, and large B-cell lymphoma (LBCL). This condition is frequently associated with infections caused by the Epstein-Barr virus and genetic alterations involving the MYC gene. Despite advances in our comprehension of this disease, the prognosis remains dismal, resulting in a low overall survival rate, although recent reports suggest an apparent tendency towards substantial improvement.</p>Michele Bibas
Copyright (c) 2023 Michele Bibas
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2024-01-012024-01-01161e2024007e202400710.4084/MJHID.2024.007CAR-T CELL THERAPY IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
https://www.mjhid.org/mjhid/article/view/5560
<p>Treatment of refractory and relapsed (R/R) B acute lymphoblastic leukemia (B-ALL) is an unmet medical need in both children and adults. Studies carried out in the last two decades have shown that autologous T cells engineered to express a chimeric antigen receptor (CAR-T) represent an effective technique for treating these patients. Antigens expressed on B-cells, such as CD19, CD20, and CD22, represent targets suitable for treating patients with R/R B-ALL. CD19 CAR-T cells induce a high rate (80-90%) of complete remissions in both pediatric and adult R/R B-ALL patients. However, despite this impressive rate of responses, about half of responding patients relapse within 1-2 years after CAR-T cell therapy. Allo-HSCT after CAR-T cell therapy might consolidate the therapeutic efficacy of CAR-T and increase long-term outcomes; however, not all the studies that have adopted allo-HSCT as a consolidative treatment strategy have shown a benefit deriving from transplantation.</p> <p>For B-ALL patients who relapse early after allo-HSCT or those with insufficient T-cell numbers for an autologous approach, using T cells from the original stem cell donor offers the opportunity for the successful generation of CAR-T cells and for an effective therapeutic approach.</p> <p>Finally, recent studies have introduced allogeneic CAR-T cells generated from healthy donors or unmatched, which are opportunely manipulated with gene editing to reduce the risk of immunological incompatibility, with promising therapeutic effects.</p> <p>Keywords: CAR T; Acute Lymphoid Leukemia; Allogeneic CAR-T; Autologous CAR-T.</p>Ugo TestaSimona SicaElvira PelosiGermana CastelliGiuseppe Leone
Copyright (c) 2023 Ugo Testa, Prof. Sica, Dr. Pelosi, Dr. Germana Castelli, Prof. Leone
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2024-01-012024-01-01161e2024010e202401010.4084/MJHID.2024.010CAR-T CELL THERAPY FOR FOLLICULAR LYMPHOMAS
https://www.mjhid.org/mjhid/article/view/5577
<p>Follicular lymphoma is the second most diagnosed lymphoma in Western Europe. Significant advancements have considerably improved the survival of FL patients. However, 10-20% of these patients are refractory to standard treatments, and most of them will relapse. The treatment of follicular lymphoma patients with multiply relapsed or refractory disease represents an area of high-unmet needing new treatments with stronger efficacy. Chimeric antigen receptor (CAR)-T cell therapy targeting B-cell antigens, such as CD19 or CD20, is emerging as an efficacious treatment for R/R follicular lymphoma patients, particularly for those with early relapse and refractory to alkylating agents and to anti-CD20 monoclonal antibodies, resulting in a high rate of durable responses in a high proportion of patients.</p> <p> </p>Ugo TestaFrancesco D'AlòElvira PelosiGermana CastelliGiuseppe Leone
Copyright (c) 2023 Ugo Testa, Dr. D'Alò, Dr. Elvira Pelosi, Dr. Germana Castelli, Prof. Giuseppe Leone
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2024-01-012024-01-01161e2024012e202401210.4084/MJHID.2024.012The THE PLASMABLASTIC LYMPHOMA. A STATE-OF-THE-ART REVIEW: PART 2-FOCUS ON THERAPY
https://www.mjhid.org/mjhid/article/view/5637
<p>The objective of this two-part review is to present a current and comprehensive understanding of the diagnosis and management of plasmablastic lymphoma. The first part, which was published previously, focused on the study of epidemiology, etiology, clinopathological characteristics, differential diagnosis, prognostic variables, and the impact of plasmablastic lymphoma on specific populations. This second part addresses the difficult topic of the treatment of plasmablastic lymphoma, specifically examining both the conventional, consolidated approach and the novel therapeutic strategy.</p>Michele Bibas
Copyright (c) 2024 Michele Bibas
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2024-02-292024-02-29161e2024015e202401510.4084/MJHID.2024.015HOW THE HEMOSTASIS LABORATORY CAN HELP CLINICIANS TO MANAGE PATIENTS ON ORAL ANTICOAGULANTS
https://www.mjhid.org/mjhid/article/view/5612
<p>Oral anticoagulants are widely used to treat or prevent cardiovascular diseases in millions of patients worldwide. They are the drugs of choice for stroke prevention and systemic embolism in patients with non-valvular atrial fibrillation and prosthetic heart valves, as well as for treatment/prevention of venous thromboembolism. Oral anticoagulants include the vitamin K antagonists (VKAs) and direct oral anticoagulants (DOACs). The hemostasis laboratory plays a crucial role for the management of treated patients that spans from dose-adjustment based on laboratory testing that applies to VKAs to the measurement of drug concentrations in special situations that applies to DOACs. This article aims to overview how the hemostasis laboratory can help clinicians to manage patients on oral anticoagulants. Special interest is devoted to the international normalized ratio, used to manage patients on VKAs and to the measurement of DOAC concentrations, for which the role of the laboratory is still not very well defined and most interferences of DOACs with some of the most common hemostatic parameters are not widely appreciated.</p>Armando Tripodi
Copyright (c) 2024 Armando Tripodi
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2024-02-292024-02-29161e2024027e202402710.4084/MJHID.2024.027CAR-T CELL THERAPY FOR T-CELL MALIGNANCIES
https://www.mjhid.org/mjhid/article/view/5633
<p>Chimeric antigen receptor T-cell (CAR-T) therapy has revolutionized the treatment of B-cell lymphoid neoplasia and, in some instances, improved disease outcomes. Thus, six FDA-approved commercial CAR-T cell products that target antigens preferentially expressed on malignant B-cells or plasma cells have been introduced in the therapy of B-cell lymphomas, B-ALLs and multiple myeloma.</p> <p>These therapeutic successes have triggered the application of CAR-T cell therapy to other hematologic tumors, including T-cell malignancies. However, the success of CAR-T cell therapies in T-cell neoplasms was considerably more limited to the existence of some limiting factors, such as the sharing of mutual antigens between normal T-cells and CAR-T cells, and malignant cells, determining fratricide events and severe T-cell aplasia; contamination of CAR-T cells used for CAR transduction with contaminating malignant T-cells. Allogeneic CAR-T products can avoid tumor contamination but raise other problems related to immunological incompatibility.</p> <p>In spite of these limitations, there has been significant progress in CD7- and CD5-targeted CAR-T cell therapy of T-cell malignancies in the last few years.</p>Ugo TestaPatrizia ChiusoloElvira PelosiGermana CastelliGiuseppe Leone
Copyright (c) 2024 Ugo Testa, Prof. Patrizia Chiusolo, Dr. Elvira Pelosi, Dr. Germana Castelli, Giuseppe Leone
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2024-02-292024-02-29161e2024031e202403110.4084/MJHID.2024.031Prof, Bruno Bizzi Obituary
https://www.mjhid.org/mjhid/article/view/5598
<p>x</p>Valerio De Stefano
Copyright (c) 2023 Valerio De Stefano
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2024-01-012024-01-01161e2024014e202401410.4084/MJHID.2024.014Successful Bridging to Allogeneic Transplantation With Valemetostat in Two Refractory/relapsed Peripheral T-cell lymphoma patients
https://www.mjhid.org/mjhid/article/view/5485
<p>We report the case of 2 patients with relapsed/refractory peripheral T-cell lymphoma treated with valemetostat tosilate, a selective dual inhibitor of histone-lysine N-methyltransferases enhancer of zeste homolog 1 and 2, and subsequently bridged to allogeneic stem cell transplantation. Valemetostat led to a quick response and was well tolerated, offering as a promising bridge therapy to transplantation for patients with relapsed/refractory peripheral T-cell lymphoma which is still an unmet medical need.</p>Gianmarco BagnatoVittorio StefoniAlessandro BroccoliLisa ArgnaniCinzia PellegriniBeatrice CasadeiFrancesca BonifaziPier Luigi Zinzani
Copyright (c) 2023 Gianmarco Bagnato, Vittorio Stefoni, Alessandro Broccoli, Lisa Argnani, Cinzia Pellegrini, Beatrice Casadei, Francesca Bonifazi, Pier Luigi Zinzani
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2024-01-012024-01-01161e2024004e202400410.4084/MJHID.2024.004THALIDOMIDE AMELIORATES ERYTHROPOIESIS AND IRON HOMEOSTASIS IN TRANSFUSION-DEPENDENT β-THALASSEMIA
https://www.mjhid.org/mjhid/article/view/5416
<p style="font-weight: 400;">Thalidomide is a therapeutic option for patients with β-thalassemia by increasing fetal hemoglobin and thereby reducing the requirement for blood transfusions. However, information on changes in erythropoiesis and iron homeostasis during thalidomide treatment is lacking. This study investigated the effects of thalidomide treatment on hematologic, erythropoietic, and iron-status parameters in 22 patients with transfusion-dependent β-thalassemia (TDT). Thalidomide significantly improved anemia endpoints, including increases in hemoglobin (<em>p</em><0.001), red blood cells (<em>p</em><0.001), and hematocrit (<em>p</em><0.001), as well as reducing erythropoietin levels (<em>p</em>=0.033) and ameliorating erythropoiesis. Thalidomide treatment significantly reduced serum iron levels (<em>p</em>=0.018) and transferrin saturation (<em>p</em>=0.039) and increased serum transferrin levels (<em>p</em>=0.030). Thalidomide had no observed effect on serum ferritin or hepcidin, but changes in hepcidin(<em>r</em>=0.439, <em>p</em>=0.041) and serum iron (<em>r</em>=−0.536, <em>p</em>=0.010) were significantly correlated with hemoglobin increment. This comprehensive study indicates that thalidomide treatment can ameliorate erythropoiesis and iron homeostasis in patients with TDT, thus supporting the effectiveness of this drug.</p>Kun YangJian Xiao
Copyright (c) 2023 Kun Yang, Jian Xiao
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2024-01-012024-01-01161e2024001e202400110.4084/MJHID.2024.001HAPLOIDENTICAL TRANSPLANT WITH POST-TRANSPLANT CYCLOPHOSPHAMIDE FOR ACUTE MYELOID LEUKAEMIA AND MYELODYSPLASTIC SYNDROMES PATIENTS: THE ROLE OF PREVIOUS LINES OF THERAPY.
https://www.mjhid.org/mjhid/article/view/5474
<p><strong>Background</strong>: Allogeneic haematopoietic stem-cell transplant is a potentially curative option for high-risk acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) patients. Post-transplant cyclophosphamide administration allows for selection of haploidentical donors in patients who are eligible for the procedure, but do not have a fully matched donor, since it can overcome the HLA barrier. There is still an active debate on whether intensification of the conditioning regimen is necessary with haploidentical donors when peripheral blood stem cells are used as the source of the graft. </p> <p>Herein we report our decennial experience of haploidentical stem-cell transplant using peripheral blood stem cells at King’s College Hospital.</p> <p><strong>Objectives:</strong> The primary objective was to evaluate overall survival (OS) for patients with less than two previous lines of therapy. Secondary objectives were total OS, OS according to cytomegalovirus (CMV) reactivation, incidence of transplant-related mortality (TRM), graft-versus-host disease (GVHD) and GVHD-relapse-free survival (GRFS).</p> <p><strong>Results:</strong> One-year and three-year total OS were 62% and 43%, respectively, with a median OS of 22 months. One-year and three-year OS for patients with ≤2 and in patients with >2 previous lines of therapy were 72% and 55%, and 60% and 22%, respectively (p-value=0.04). The median OS in patients with >2 previous lines of therapy and ≤2 lines of therapy was 16 and 49 months, respectively. Cumulative incidence (CI) of relapse was 25% with a median time to relapse of 5 months (range 1 – 38 months).</p> <p><strong>Conclusions:</strong> Haploidentical haematopoietic stem-cell transplant is potentially curative in chemo-sensitive AML and MDS and offers a high rate of prolonged remission. Our cohort further confirms the role of consolidative haploidentical transplant in patients in complete remission and highlights that patients with heavily pre-treated disease may not benefit from this strategy.</p> <p> </p>Daniele AvenosoFabio SerpentiLiron Barnea SlonimStyliani BouzianaFrancesco DazziGuy HannahMichelle KenyonVarun MehraAustin KulasekararajPramila KrishnamurthyMili Naresh ShahSharon LionelAntonio PagliucaVictoria Potter
Copyright (c) 2023 Daniele Avenoso, Fabio Serpenti, Liron Barnea Slonim, Styliani Bouziana, Francesco Dazzi, Guy Hannah, Michelle Kenyon, Varun Mehra, Austin Kulasekararaj, Pramila Krishnamurthy, Mili Naresh Shah, Sharon Lionel, Antonio Pagliuca, Victoria Potter
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2024-01-012024-01-01161e2024002e202400210.4084/MJHID.2024.002ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME
https://www.mjhid.org/mjhid/article/view/5476
<p><strong>Background and objective:</strong> Pediatric myelodysplastic syndrome (pMDS) is a group of rare clonal neoplasms with a difficult diagnosis and risk of progression to acute myeloid leukemia (AML). The early stratification in risk groups is essential to choosing the treatment and indication for allogeneic hematopoietic stem cell transplantation (HSCT). According to the Revised International Prognostic Scoring System, cytogenetic analysis has demonstrated an essential role in diagnosis and prognosis. In pMDS, abnormal karyotypes are present in 30-50% of the cases. Monosomy 7 is the most common chromosomal alteration associated with poor prognosis. However, the rarity of specific cytogenetic alterations makes its prognosis uncertain. Thus, this study aimed to describe uncommon cytogenetic alterations in a cohort of 200 pMDS patients and their association with evolution to AML. <strong>Methods:</strong> The cytogenetic analysis was performed in 200 pMDS patients by G-banding and fluorescence <em>in situ</em> hybridization between 2000 to 2022. <strong>Results:</strong> Rare chromosome alterations were observed in 7.5% (15/200) of the cases. These chromosome alterations were divided into four cytogenetic groups: hyperdiploidy, biclonal chromosomal alterations, translocations, and uncommon deletions, which represented 33.3%, 33.3%, 20%, and 13.3%, respectively. Most of these patients (10/15) were classified with advanced MDS (MDS-EB and MDS/AML) and the initial subtype was present in five patients (RCC). The leukemic evolution was observed in 66.66% (10/15) of the patients. Most patients had poor clinical outcomes and they were indicated for HSCT. <strong> Conclusion: </strong>The study of uncommon cytogenetic alterations in pMDS is important to improve the prognosis and guide early indication of HSCT. </p> <p>Keywords: Pediatric MDS; Leukemic evolution; rare chromosomal altwerations; HSCT, Children</p>Viviane Lamim LovatelBeatriz Ferreira da Silva Eliane Ferreira Rodrigues Maria Luiza Rocha da Rosa Borges Rita de Cássia Barbosa TavaresAna Paula Silva BuenoElaine Sobral da CostaTerezinha de Jesus Marques Teresa de Souza Fernandez
Copyright (c) 2023 Lovatel, VL., Silva, BF., Rodrigues, EF., Borges, MLRR, Tavares, RCB, Bueno, APS., Costa, ES, Salles, TJM., Teresa de Souza Fernandez
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2024-01-012024-01-01161e2024003e202400310.4084/MJHID.2024.003CAN WE PREDICT INCIPIENT DIABETES MELLITUS IN PATIENTS WITH TRANSFUSION DEPENDENT β-THALASSEMIA (β-TDT) REFERRED WITH A HISTORY OF PREDIABETES?
https://www.mjhid.org/mjhid/article/view/5495
<p><strong>Background: </strong>Prediabetes and diabetes mellitus (DM) are complications in adult patients with transfusion dependent β-thalassemia (β-TDT), with their incidence increasing with age. <strong>Objective:</strong> This retrospective observational study describes the glycemic trajectories and evaluates predictive indices of β-cell function and insulin sensitivity/resistance in β-TDT patients with prediabetes, both in a steady state and during 3-h oral glucose tolerance test (OGTT), in order to identify patients at high risk for incipient diabetes. <strong>Setting: </strong>The study was mainly conducted at the Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara (Italy) in collaboration with thalassemia referring centers across Italy. <strong>Patients: </strong>The study included 11 β-TDT (aged 15.11- 31.10 years) with history of prediabetes. <strong>Methods:</strong> The ADA criteria for the diagnosis of glucose dysregulation were adopted. Investigations included evaluation of plasma glucose levels and insulin secretion, analysis of glycemic trajectories and indices of β-cell function and insulin sensitivity/resistance assessed in steady state and during OGTT. <strong>Results: </strong>The duration of progression from prediabetes to DM, expressed in years, showed a positive direct correlation with corrected insulin response (CIR-30 = r: 0.7606, P: 0.0065), <strong>insulinogenic index (</strong>IGI 0-120 = r: 0.6121, P:0.045), oral disposition index (oDI = r: 0.7119, P:0.013), insulin growth factor-1 (IGF-1= r: 0.6246, P: 0.039) and an inverse linear correlation with serum ferritin (SF = r: -0.7197, P: 0.012). <strong>Conclusions:</strong> Progressive β-cell failure, peripheral resistance to the action of insulin and reduction of oDI were the principal factors responsible for the progression from prediabetes to incipient DM.</p>Vincenzo De SanctisAshraf SolimanShahina DaarPloutarchos TzoulisChristos Kattamis
Copyright (c) 2023 Vincenzo De Sanctis, Ashraf Soliman, Shahina Daar, Ploutarchos Tzoulis, Christos Kattamis
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2024-01-012024-01-01161e2024005e202400510.4084/MJHID.2024.005SAFETY OF BRONCHOALVEOLAR LAVAGE IN HEMATOLOGICAL PATIENTS WITH THROMBOCYTOPENIA – A RETROSPECTIVE COHORT STUDY
https://www.mjhid.org/mjhid/article/view/5506
<p><strong>Background</strong></p> <p><span style="font-weight: 400;">Hospitalized hematological patients often require bronchoalveolar lavage (BAL). Paucity of evidence exists as to the potential risks in patients with very-severe thrombocytopenia (VST).</span></p> <p><strong>Methods</strong></p> <p><span style="font-weight: 400;">This retrospective-cohort study included adult hematological in-patients with VST, defined as platelets<20x10</span><span style="font-weight: 400;">3</span><span style="font-weight: 400;">/μL, undergoing BAL during 2012-2021. Mechanically-ventilated patients or those with known active bleeding were excluded. Primary outcomes included major bleeding halting the BAL or deemed significant by the treating physician, need for any respiratory support other than low flow O2 or death within 24 hours. Any other bleeding were recorded as secondary outcomes. </span></p> <p><strong>Results</strong></p> <p><span style="font-weight: 400;">Of the 507 patients included in the final analysis, the 281 patients with VST had lower hemoglobin (Md=0.3, </span><em><span style="font-weight: 400;">p=0.003</span></em><span style="font-weight: 400;">), longer prothrombin-time (Md=0.7s, </span><em><span style="font-weight: 400;">p=0.025</span></em><span style="font-weight: 400;">), higher chances of preprocedural platelet transfusion (RR 3.68, 95%CI[2.86,4.73]), and only one primary-outcome event (death of septic shock 21h postprocedurally) - compared with 3 (1.3%) events (two bleedings halting procedure and one need for non-invasive-ventilation) in patients with platelets ≥20x10</span><span style="font-weight: 400;">3</span><span style="font-weight: 400;">/μL (</span><em><span style="font-weight: 400;">p=0.219</span></em><span style="font-weight: 400;">). Risk of minor, spontaneously resolved bleeding was higher (RR=3.217, 95%CI[0.919,11.262]) in patients with VST (4.3% vs 1.3%, </span><em><span style="font-weight: 400;">p=0.051</span></em><span style="font-weight: 400;">). No association was found between any of the complications recorded and preprocedural platelets, age, aPTT, PT, hematological status, or platelet transfusion. </span></p> <p><strong>Conclusions</strong></p> <p><span style="font-weight: 400;">This data suggests BAL to be safe even when platelet counts are <20x10</span><span style="font-weight: 400;">3</span><span style="font-weight: 400;">/μL.</span></p>Ivan GURRoei TounekYaniv DotanElite Vainer EvgrafovStav RakedzonEyal Fuchs
Copyright (c) 2023 Ivan GUR, Roei Tounek, Yaniv Dotan, Elite Vainer Evgrafov, Stav Rakedzon, Eyal Fuchs
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2024-01-012024-01-01161e2024006e202400610.4084/MJHID.2024.006COMPARISON OF INFECTIOUS COMPLICATIONS IN PATIENTS RECEIVING HIGH-DOSE CYCLOPHOSPHAMIDE AS GVHD AFTER TRANSPLANTATION FROM A 9/10 HLA-MATCHED UNRELATED DONOR WITH STANDARD GVHD PROPHYLAXIS AFTER TRANSPLANT FROM A FULL MATCHING DONOR
https://www.mjhid.org/mjhid/article/view/5509
<p><strong>Background:</strong> The aim of this study was to evaluate whether cyclophosphamide administered after allogeneic stem cell transplantation (ASCT) from 9/10 HLA-Matched Unrelated Donors (MMUD) increases the rates of bloodstream infections (BSI) (fungal, viral (CMV, BK, hepatitis), bacterial), infectious complications (hemorrhagic cystitis(HC)) and infection-related mortality compared to allogeneic stem cell transplantation from matched related donors (MRD).</p> <p><strong>Metods: This is a retrospective multicenter study.</strong> 45 MMUD ASCT patients who received posttransplant cyclophosphamide + methotrexate + calcineurin inhibitor compared with 45 MRD ASCT patients who received methotrexate + calcineurin inhibitor.</p> <p><strong>Results: </strong>Although there was a statistically significant prolongation of neutrophil engraftment time in the PTCy arm, there was no statistically significant difference in bacterial BSI frequencies between the groups (PTCy; 9(20%), control;8 (17.8%), p=0.778). The distribution of CMV infection in the first 100 days was similar (p=0.827) but the distribution of CMV infection rate between the 100th and 365th days, was observed more frequently in the control group (p=0.005). HC rates and their grades were similar in both groups (PTCy; 4 (8.8%), control;6 (13.3%) p=0.502). The rates of VZV infection and invasive aspergillosis were similar in the PTCy and control groups (13.3% in the PTCy, and 17.8% in the control group p=0.561). IRM rate was statistically similar in both groups (13.3% in the PTCy arm and 17.8% in the control arm)</p> <p><strong>Conclusions:</strong> The addition of PTCy to standard GvHD prophylaxis in MMUD ASCT does not lead to an increase in CMV reactivation, bacterial BSI, invasive fungal infection, viral hemorrhagic cystitis or infection-related mortality.</p>Selim SAYIN
Copyright (c) 2024 Selim SAYIN
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2024-02-292024-02-29161e2024016e202401610.4084/MJHID.2024.016NG2 MOLECULE EXPRESSION IN ACUTE LYMPHOBLASTIC LEUKEMIA B CELLS: A FLOW-CYTOMETRIC MARKER FOR THE RAPID IDENTIFICATION OF KMT2A GENE REARRANGEMENTS
https://www.mjhid.org/mjhid/article/view/5523
<div> <p><em><span lang="EN-US">Background</span></em><span lang="EN-US">: B-lineage acute lymphoblastic leukemias (B-ALL) harboring rearrangements </span><span lang="EN-US">of the histone lysine [K]-Methyltransferase 2A (<em>KMT2A</em>) gene on chromosome 11q23 (<em>KMT2A-r</em>), represent a category with dismal prognosis. The prompt identification of these cases represents an urgent clinical need. Considering the correlation between rat neuron glial-antigen 2 (NG2) chondroitin sulfate proteoglycan molecule expression and <em>KMT2A-r</em>, we aimed identifying an optimized cytofluorimetric diagnostic panel to predict the presence of <em>KMT2A-r</em>. </span><em><span lang="EN-US">Materials and Methods</span></em><span lang="EN-US">: We evaluated 88 NG2+ B-ALL cases identified with</span><span lang="EN-US"> a NG2 positivity threshold >10%, from a cohort of 1382 newly diagnosed B-ALLs referred to the Division of Hematology of ‘Sapienza’ University of Rome. </span><em><span lang="EN-US">Results</span></em><span lang="EN-US">: Eighty-five of 88 (96.6%) NG2+ B-ALLs harbored <em>KMT2A-r</em> and were mainly pro-B ALL (77/85; 91%). O</span><span lang="EN-US">nly 2 B-ALLs with <em>KMT2A-r</em> showed NG2 expression below 10%, probably due to the steroid therapy administered prior to cytofluorimetric analysis. When compared to <em>KMT2A-r</em>‒ cases, <em>KMT2A r</em>+ B-ALLs presented a higher blast percentage, a significantly higher mean fluorescence intensity (MFI) of CD45, CD38 and CD58, and a significantly lower CD34, CD22, TdT and CD123 MFI. The differences in CD45, CD34, CD22 and TdT MFI were confirmed within the same immunologic EGIL (European Group for the immunological classification of leukemias) group, suggesting no influence of the B-ALLs EGIL subtype on the peculiar <em>KMT2A-r+</em> B-ALLs immunophenotype. </span><em><span lang="EN-US">Conclusions</span></em><span lang="EN-US">: Our data show how the association between NG2 and <em>KMT2A-r</em> in B-ALLs identify a peculiar immunophenotypic pattern, useful for rapid identification in diagnostic routines of these subtypes of B-ALLs with a poor prognosis, that benefit from a specific therapeutic approach.</span></p> </div>Maria Laura BisegnaNadia PeragineLoredana EliaMabel MatarazzoMaria Laura MilaniStefania IntoppaMariangela Di TraniFrancesco MalfonaMaurizio MartelliMaria Stefania De Propris
Copyright (c) 2024 Maria Laura Bisegna, Nadia Peragine, Loredana Elia, Mabel Matarazzo, Maria Laura Milani, Stefania Intoppa, Mariangela Di Trani, Francesco Malfona, Maurizio Martelli, Maria Stefania De Propris
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2024-02-292024-02-29161e2024018e202401810.4084/MJHID.2024.018RITUXIMAB VERSUS SPLENECTOMY IN CHRONIC PRIMARY ITP: EXPERIENCE OF A SINGLE HEMATOLOGY CLINIC
https://www.mjhid.org/mjhid/article/view/5562
<p><strong>Objective</strong>: Immune thrombocytopenia (ITP) is an acquired immune-mediated disease that lacks an underlying etiology. Steroids are the main first-line treatment of ITP, while the second-line treatment consists primarily of splenectomy and rituximab. This study aimed to assess and compare the response to rituximab and splenectomy.</p> <p><strong>Methods</strong>: This retrospective comparative study reviewed ITP patients treated at a single private hematology clinic from 2007 to 2019. Seventy-four ITP patients were recruited, 27 were on rituximab, and 47 had undergone splenectomy. The initial platelet counts and bleeding symptoms were recorded, and initial and long-term responses to treatment were evaluated based on the American Society of Hematology guidelines.</p> <p><strong>Results</strong>: The mean age of the patients was 42.1 years with a male-to-female ratio of 1:1.8. The initial mean platelet count was comparable between the rituximab and splenectomy groups (p = 0.749). The initial complete response (CR) differed significantly between the rituximab and splenectomy groups (44.4% versus 83%, p = 0.002). The five-year response rate was significantly higher in the splenectomy than in the rituximab group (74% versus 52%, log-rank 0.038). Splenectomy was the only significant predictive factor for long-term response (OR = 0.193, p = 0.006).</p> <p><strong>Conclusion</strong>: The overall response revealed that splenectomy appeared superior to rituximab as a second-line treatment of ITP. Splenectomy was the only positive prognostic indicator of sustained response.</p>Rawanda ShamoonAhmed Khudair YassinSarah Laith Alnuaimi
Copyright (c) 2024 Rawanda Shamoon, Ahmed K. Yassin, Sara L. Alnuaimi
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2024-02-292024-02-29161e2024019e202401910.4084/MJHID.2024.019SECONDARY PROPHYLAXIS OF VENOUS THROMBOEMBOLISM (VTE) WITH LOW DOSE APIXABAN OR RIVAROXABAN: RESULTS FROM A PATIENT POPULATION WITH MORE THAN 2 YEARS OF MEDIAN FOLLOW-UP
https://www.mjhid.org/mjhid/article/view/5567
<p><u>Background</u>: Direct oral anticoagulants (DOACs) are widely used for the treatment and secondary prophylaxis of venous thromboembolism (VTE). Nowadays, DOACs represent the gold standard for long-term anticoagulation, with low-intensity DOACs administration becoming increasingly used worldwide in such scenario. Albeit low-intensity apixaban and rivaroxaban are approved for clinical usage as secondary VTE prophylaxis, there are few literature data regarding their efficacy and safety with a long follow-up.</p> <p><u>Objectives</u>: The aim of our study was to evaluate the efficacy and safety of low-dose DOACs for VTE secondary prophylaxis, in patients at high risk of VTE recurrence.</p> <p><u>Methods</u>: We retrospectively evaluated patients who required long-term anticoagulant secondary prophylaxis to prevent recurrent VTE, treated with apixaban 2.5 mg BID or rivaroxaban 10 mg daily with a follow-up ≥ 12 months.</p> <p><u>Results</u>: The examined patients were 323. The median low-dose DOACs administration time was 25.40 months (IQR 13.93-45.90). Twelve (3.7%) VTE recurrences were observed; 21 bleeding events were registered (6.5%), including one episode of MB (0.3%), 8 CRNMB (2.5%) and 12 minor bleeding (3.7%). No statistically significant difference in the rate of VTE recurrence and/or bleeding events emerged between rivaroxaban and apixaban groups. Patients included in the study for multiple episodes of VTE presented a significant higher risk of a new VTE recurrence during low-intensity DOAC.</p> <p><u>Conclusions</u>: Our data suggest that low-dose DOACs may be effective and safe in the secondary VTE prophylaxis in patients at high risk of VTE recurrence, but attention might be needed in their choice in such scenario for patients who experienced multiple episodes of VTE.</p>Alessandro LaganàGiovanni Manfredi AssantoChiara MasucciMauro PassucciLivia DonzelliAlessandra SerraoErminia BaldacciCristina SantoroAntonio Chistolini
Copyright (c) 2024 Alessandro Laganà, Giovanni Manfredi Assanto, Chiara Masucci, Mauro Passucci, Livia Donzelli, Alessandra Serrao, Erminia Baldacci, Cristina Santoro, Antonio Chistolini
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2024-02-292024-02-29161e2024020e202402010.4084/MJHID.2024.020COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES
https://www.mjhid.org/mjhid/article/view/5538
<p><strong>Background:</strong> Erythrocytosis is a relatively common condition, however a large proportion of these patients (70%) remain without a clear etiologic explanation. </p> <p><strong>Methods:</strong> We set up a targeted NGS panel for patients with erythrocytosis and 118 sporadic patients with idiopathic erythrocytosis were studied.</p> <p><strong>Results:</strong> In 40 (34%) patients no variant was found while in 78 (66%) we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered <em>HFE</em> gene was observed in 51 cases (57.1%), <em>EGLN1</em> in 18 (22.6%) and <em>EPAS1,</em> <em>EPOR</em>, <em>JAK2, </em>and <em>TFR2</em> variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes.</p> <p><strong>Conclusions:</strong> Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. A NGS panel including more candidate genes should reduce the number of cases diagnosed as “idiopathic” erythrocytosis in whom a cause cannot yet be identified. It is known that <em>HFE</em> variants are common in idiopathic erythrocytosis. <em>TFR2</em> alterations supports the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often of multigenic nature. </p>Andrea BenettiIrene Bertozzi, PhD, MDGiulio CeolottoIrene CortellaDaniela RegazzoGiacomo BiagettiElisabetta CosiMaria Luigia Randi, MD, Prof
Copyright (c) 2024 Andrea Benetti, Irene Bertozzi, PhD, MD, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi, MD, Prof
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2024-02-292024-02-29161e2024021e202402110.4084/MJHID.2024.021CLINICAL SIGNS AND TREATMENT OF NEW-ONSET BONE MARROW FAILURE ASSOCIATED SARS-COV-2 INFECTION IN CHILDREN : A SINGLE INSTITUTION PROSPECTIVE COHORT STUD
https://www.mjhid.org/mjhid/article/view/5466
<p>Viral infections can cause direct and indirect damage to hematopoietic stem cells.</p> <p>The objectives of this study were to identify the frequency and severity of aplastic anemia in Severe acute respiratory syndrome coronavirus 2 ( SARS-CoV-2) infected children as well as recognition of the response to treatment</p> <p>Methodology: 13 children with newly-diagnosed severe aplastic anemia enrolled in this prospective clinical trial. Blood samples were obtained from all patients to detect SARS-CoV-2 antibodies, and nasopharyngeal swabs were collected for reverse-transcription Polymerase Chain Reaction to detect SARS-CoV-2 viruses. According to the laboratory results, patients were classified in to SARS-CoV-2 positive antibodies and SARS-CoV-2 negative antibodies . Both groups received combined cyclosporine (CsA) + Eltrombopag (E-PAG). The hematological response either complete response (CR)or partial response (PR), no response (NR) and overall response (OR) rates of combined E-PAG + CsA treatment after 6 months were evaluated.</p> <p>Results: Four children were recognized to have aplastic anemia and SARS-CoV-2 positive antibodies. Two patients fulfilled the hematological criteria for CR and no longer required transfusion of packed red blood cells (PRBCs) or platelets and one had PR and were still PRBC transfusion-dependent but no longer required platelet transfusion. The remaining patient showed NR and he had died before reaching the top of the HSCT waiting list. Moreover, six patients in the SARS-CoV-2 negative antibodies group had CR while three patients had PR. The difference in ANC, Hg, and platelet counts between both groups was not significant.</p> <p>Conclusion: SARS-CoV-2 virus is added to several viral infections known to be implicated in the pathogenesis of aplastic anaemia. Studies are needed to establish a definitive association and determine whether the response of bone marrow failure to standard therapy differ from that of idiopathic cases.</p>Mervat A M youssefEbtisam Shawky hmedDalia Tarik Kamalkhalid Elsayh,Mai A AbdelfattaHyam Hassan Mahran MahranMostafa M Embaby
Copyright (c) 2024 Mervat A M youssef, Ebtisam Shawky hmed, Dalia Tarik Kamal, khalid Elsayh,, Mai A Abdelfatta, Hyam Hassan Mahran Mahran, Mostafa M Embaby
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2024-02-292024-02-29161e2024034e202403410.4084/MJHID.2024.034Antibody response to breakthrough SARS-CoV-2 infection in “booster” vaccinated patients with multiple myeloma according to B/T/NK lymphocyte absolute counts and anti-CD38 treatments
https://www.mjhid.org/mjhid/article/view/5618
NICOLA SGHERZAAnna MesticeAngela Maria Vittoria LaroccaPellegrino Musto
Copyright (c) 2024 NICOLA SGHERZA, Anna Mestice, Angela Maria Vittoria Larocca, Pellegrino Musto
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2024-02-292024-02-29161e2024022e202402210.4084/MJHID.2024.022Seroprevalence of transfusion-transmissible infections among family replacement donors and voluntary non-remunerated blood donors during the COVID-19 pandemic in sub Saharan Africa
https://www.mjhid.org/mjhid/article/view/5529
<p><strong>Introduction</strong> : According to WHO, regular, voluntary, unpaid blood donors are the safest group of donors, as they have the lowest prevalence of blood transmitted infections. However, family/replacement blood donors is widely used in sub Saharan Africa and this practice was exacerbated during the COVID 19 pandemic. This study aimed to compare the seroprevalence of infectious markers in family replacement blood donors and voluntary non-remunerated blood donors during the COVID 19 pandemic in a country of sub Saharan Africa. </p> <p><strong> Materials and Methods</strong></p> <p>Blood donors received at the National Centre of Blood Transfusion <strong>(</strong>NBTC) of Dakar from August 1<sup>st</sup> to October 31<sup>th</sup> 2021, were included in this study. All donors completed a pre-donation questionnaire. Donors identity, epidemiological parameters, reasons for donation and laboratory results were collected in the Inlog<sup>®</sup> software of the NBTC. The serological tests for HBV, HIV and HCV were performed with chemiluminescence technology. The Rapid Plasma Reagent test was used to find out treponemal antibodies. The determination of ABO and Rh blood groups was performed using monoclonal antisera following classical hemagglutination test on a plate.</p> <p><strong>Results</strong></p> <p>A total of 5002 donors were collected during this COVID-19 pandemic period. Blood family/replacement donors represented 54.0% and new voluntary donors represented 52.6%. Comparison of HIV, HCV and syphilis markers seroprevalence showed no statistically significant difference between new voluntary donors and new family replacement donors (<em>p>0.05</em>). However, for HBV the seroprevalence was significantly higher in new family replacement donors (<em>p=0,002</em>).</p> <p><strong>Conclusion </strong></p> <p>The proper supply of blood was impacted by the COVID-19 pandemic meanwhile replacement donations had contributed to limiting the damage observed with blood shortages. However, the significant differences noted on the seroprevalences of transfusion-transmissible infections between voluntary non-paid donors and family/replacement donors strengthens WHO recommendations for the selection of volunteer non-paid donors to lower transfusion-transmissible HBV in sub Saharan Africa.</p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p>Macoura GadjiYoussou Bamar GueyeDavid MottoSaliou Diop
Copyright (c) 2023 Macoura GADJI, Dr , Dr , Prof.
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2024-01-012024-01-01161e2024008e202400810.4084/MJHID.2024.008How we prevented an anti-P1 mediated hemolytic transfusion reaction
https://www.mjhid.org/mjhid/article/view/5548
Beatrice BorsellinoTiziano MartiniRino BiguzziIrene FrancesconiMaria Federica CurràSabrina Lelli
Copyright (c) 2023 Beatrice Borsellino, Tiziano Martini, Rino Biguzzi, Irene Francesconi, Maria Federica Currà, Sabrina Lelli
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2024-01-012024-01-01161e2024009e202400910.4084/MJHID.2024.009Hemophagocytic lymphohistiocytosis secondary to refractory acute myeloid leukemia resolved after second line treatment with azacitidine plus venetoclax
https://www.mjhid.org/mjhid/article/view/5564
<p>Hemophagocytic lymphohistiocytosis (HLH), also defined as hemophagocytic syndrome (HPS), represents a potentially life-threatening hyperinflammatory syndrome, characterized by impaired function of cytotoxic T lymphocytes, natural killer cells and macrophages. The main clinical features of HLH are prolonged fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. Secondary HLH typically occurs in conjunction with severe infections, malignancies or autoimmune disorders and intensive chemotherapy, potentially complicating treatment of acute myeloid leukemia (AML) in around 10% of cases. Herein we report for the first time a case of HLH secondary to refractory/relapsed AML resolved after a second line treatment with azacitidine plus venetoclax, thus offering a new potential therapeutic perspective in the context of a life-threatening clinical scenario.</p>Claudio Fozza
Copyright (c) 2023 Claudio Fozza
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2024-01-012024-01-01161e2024011e202401110.4084/MJHID.2024.011A case of central venous catheter-related Candida parapsilosis fungemia evolved to disseminated infection in a neutropenic patient with blast crisis of chronic myeloid leukemia.
https://www.mjhid.org/mjhid/article/view/5590
<p>Central venous catheter-related infections are of particular importance in onco-hematological patients. <em>Candida</em> <em>parapsilosis</em> is generally reported as a mild pathogen, however it is able to effectively colonize intravascular devices and potentially give rise to sustained fungemias. Here we report a case of invasive, potentially lethal <em>C. parapsilosis</em> disseminated infection in a neutropenic patient affected by chronic myeloid leukemia with blast crisis. We underline the importance of removing the central venous catheter as potential source of infection as soon as possible during the course of candidemia, and not replacing it with other polyurethan intravascular devices, which pose a risk for the maintenance of the fungemia despite the administration of the best antifungal therapy available.</p>Elena AmabileMatteo TotaroLuca CappelliClara MinottiAlessandra Micozzi
Copyright (c) 2023 Elena Amabile, Matteo Totaro, Luca Cappelli, Clara Minotti, Alessandra Micozzi
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2024-01-012024-01-01161e2024013e202401310.4084/MJHID.2024.013Protein S deficiency with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy
https://www.mjhid.org/mjhid/article/view/5524
Kun Yang
Copyright (c) 2024 Kun Yang
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2024-02-292024-02-29161e2024017e202401710.4084/MJHID.2024.017Could the 3′UTR+101G>C Mutation Detected in Two Sibling Cases Be a Mutation Affecting the Clinical Presentation in Thalassemia Patients?
https://www.mjhid.org/mjhid/article/view/5580
<p>Due to letter to aditor, there is no abstract.</p>Unal AtasVolkan KarakusErdal Kurtoglu
Copyright (c) 2024 Unal Atas, Volkan Karakus, Erdal Kurtoglu
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2024-02-292024-02-29161e2024023e202402310.4084/MJHID.2024.023Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia
https://www.mjhid.org/mjhid/article/view/5581
<p>NA</p>Junjie Ning
Copyright (c) 2024 Junjie Ning
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2024-02-292024-02-29161e2024024e202402410.4084/MJHID.2024.024Successful treatment of de novo acute myeloid leukaemia associated aortitis by induction chemotherapy alone
https://www.mjhid.org/mjhid/article/view/5603
Urbain Tauveron--JalenquesVincent GrobostBenoît MagninCécile Moluçon-ChabrotJacques-Olivier BayOlivier TournilhacRomain Guièze
Copyright (c) 2024 Urbain Tauveron--Jalenques, Vincent Grobost, Benoît Magnin, Cécile Moluçon-Chabrot, Jacques-Olivier Bay, Olivier Tournilhac; Romain Guièze
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2024-02-292024-02-29161e2024025e202402510.4084/MJHID.2024.025Impact of hydroxyurea on clinical and biological parameters of sickle cell anemia in children in Abidjan
https://www.mjhid.org/mjhid/article/view/5604
<p><strong>Background: </strong>The lives of individuals affected by sickle cell disease are marked by painful crises sometimes accompanied by complications. Curative treatments such as bone marrow transplantation or gene therapy exist, but are not currently performed in Côte d'Ivoire. Treatment with hydroxyurea remains an effective alternative. The aim of our study is to contribute to improving the management of children with sickle cell disease.</p> <p><strong>Methods: </strong>We conducted a prospective observational study from November 2017 to April 2019 at the at the Yopougon University Hospital. Children aged 5 to 15 years experiencing at least 3 vaso-occlusive crises (VOC) per year were included in the study after obtaining informed and written consent from their parents. Each patient received a daily dose of 15mg/kg of hydroxyurea.</p> <p><strong>Results: </strong>The mean age of the children was 9 years. More than 75% of patients were homozygous SSFA2 major sickle cell individuals. After 6 months on hydroxyurea, our study observed rates of 84.4%, 100%, and 97.8%, respectively, for the absence of vaso-occlusive crises, hospitalization, and transfusion. Biologically, from M0 to M12 the mean hemoglobin level increased significantly, from 7.24 to 8.55 g/dL; white blood cell (WBC) and platelet counts decreased; Fetal hemoglobin (Hb F) increased significantly from 10.3% to 19.7%. Biochemical parameters within normal ranges, except for a moderate treatment-related increase in transaminases.</p> <p><strong>Conclusion:</strong> The induction of fetal hemoglobin (Hb F) production through hydroxyurea intake is the primary mechanism by which hydroxyurea modifies the pathogenesis of sickle cell disease</p>MIREILLE YAYO- AYEAdia Eusèbe AdjambriBoidy KouakouRebecca N'guessan-BlaoLouis Missa AdjéTaïratou KamagatéVincent YapoDuni Sawadogo
Copyright (c) 2024 MIREILLE YAYO- AYE, Adia Eusèbe Adjambri, Boidy Kouakou, Rebecca N'guessan-Blao, Louis Missa Adjé, Taïratou Kamagaté, Vincent Yapo, Duni Sawadogo
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2024-02-292024-02-29161e2024026e202402610.4084/MJHID.2024.026Pneumatosis cystoides intestinalis with fatal air embolism after minor blunt abdominal trauma in a 6-year-old girl undergoing hematopoietic stem cell trasplant: case report and review of literature
https://www.mjhid.org/mjhid/article/view/5616
Matteo ChinelloOlivia Chapin ArnoneSilvia ArtusaGiorgia MazzucaElisa BonettiVirginia VitaleAda ZaccaronDario RanieroSimone Cesaro
Copyright (c) 2024 Matteo Chinello, Olivia Chapin Arnone, Silvia Artusa, Giorgia Mazzuca, Elisa Bonetti, Virginia Vitale, Ada Zaccaron, Dario Raniero, Simone Cesaro
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2024-02-292024-02-29161e2024028e202402810.4084/MJHID.2024.028FLT3 Mutated Acute Myeloid Leukemia after CD19 CAR-T Cells
https://www.mjhid.org/mjhid/article/view/5622
<p>Chimeric Antigen Receptor T-cells have improved the life expectancy of severely pretreated patients with aggressive hematological cancers; for this reason, therapy-related myeloid leukemias are becoming of great concern in this field, despite their clonal phylogenesis and mutational landscape have not been fully explored yet. This case discusses a 33-year-old man with refractory large B-cell lymphoma, treated with Chimeric Antigen Receptor T-cell (CAR-T) therapy as the 7th line of treatment. Despite a persistent partial response, the patient developed therapy-related acute myeloid leukemia (t-AML) six months post-CAR-T, revealing pre-existing clonal hematopoiesis. The myeloid malignancy exhibited an unusual hypocellular/dysplastic pattern, progressing to an established blast phase with cytopenia. Treatment with demethylating agents and BCL2 inhibitors proved ineffective, leading to t-AML with hyperleukocytosis and FLT3-ITD gain, resulting in the patient's death. This case underscores the impact of severe pretreatment and bone marrow impairment in CAR-T-associated t-AML, emphasizing their role over insertional mutagenesis. Furthermore, it highlights the retention of classic therapy-related leukemia characteristics, including the potential for acquiring FLT3 mutations and displaying dysplastic morphology in these secondary leukemias.</p>Eugenio GalliFilippo FrioniTanja MalaraEnrico AttardiSilvia BellesiStefan HohausSimona SicaFederica SoràPatrizia Chiusolo
Copyright (c) 2024 Eugenio Galli, Filippo Frioni, Tanja Malara, Enrico Attardi, Silvia Bellesi, Stefan Hohaus, Simona Sica, Federica Sorà, Patrizia Chiusolo
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2024-02-292024-02-29161e2024029e202402910.4084/MJHID.2024.029Internal Medicine Ward with Hematological Skills for the Treatment of Complications Suffered by Hematological Patients on Therapy: Experience of Villa Betania Hospital inRome
https://www.mjhid.org/mjhid/article/view/5632
alessandro andrianiLaura MarchettiFabio RossiSilvia RajaMaria Antonietta PerrettiUmberto Recine
Copyright (c) 2024 alessandro andriani, Laura Marchetti, Fabio Rossi, Silvia Raja, Maria Antonietta Perretti, Umberto Recine
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2024-02-292024-02-29161e2024030e202403010.4084/MJHID.2024.030Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
https://www.mjhid.org/mjhid/article/view/5571
<p><span style="font-weight: 400;">Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene. </span></p>Amiya NayakPratyusha GudapatiSwapnil TripathiJasmita DassMukul AggarwalPradeep Kumar
Copyright (c) 2024 Amiya Nayak, Pratyusha Gudapati, Swapnil Tripathi, Jasmita Dass, Mukul Aggarwal, Pradeep Kumar
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2024-02-292024-02-29161e2024033e202403310.4084/MJHID.2024.033