Hematology, Transfusion and Cell Therapy最新文献

{"title":"DYNAMIC BALANCE EVALUATION IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA UNDERGOING CONSOLIDATION THERAPY","authors":"Fulya Ipek-Erdem ,&nbsp;Sena Sonkaya ,&nbsp;Arzu Genç ,&nbsp;Şebnem Yılmaz","doi":"10.1016/j.htct.2025.103883","DOIUrl":"10.1016/j.htct.2025.103883","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to clinically assess the dynamic balance performance in children with Acute Lymphoblastic Leukemia (ALL) undergoing consolidation therapy by comparing their performance with normative data, thereby identifying potential treatment-related impairments in this population.</div></div><div><h3>Methodology</h3><div>This descriptive study was conducted at Dokuz Eylül University, Faculty of Physiotherapy and Rehabilitation in Turkey. Fifteen children with ALL were enrolled and divided into the following age groups: 6–7 years (n = 8), 8–9 years (n = 4), 10–11 years (n = 1), 12–13 years (n = 1), and 14–15 years (n = 1). All participants underwent the Limit of Stability (LOS) test using a Balance Master NeuroCom system, which quantifies key parameters including Reaction Time (RT), Movement Velocity (MVL), Directional Control (DCL), Maximum Excursion (MXE), and Endpoint Excursion (EPE). Given the minimal sample sizes in the 10–11, 12–13, and 14–15 years groups, the primary analysis focused on the 6–7 and 8–9 years groups. Normative data for each parameter were extracted from previous studies using the Balance Master LOS test in healthy children.</div></div><div><h3>Results</h3><div>In the 6–7 years group, the average RT was 1.05 seconds (norm: 0.79s), and MVL was 4.31°/s (norm: 4.64°/s). In contrast, DCL was 62.25% (norm: 52.50%), MXE reached 88.0% (norm: 83.3%), and EPE was 66.5% (norm: 64.54%). In the 8–9 years group, the average RT was 1.06 seconds (norm: 0.82s), and MVL was 3.7°/s (norm: 5.42°/s), while DCL was elevated at 73.50% (norm: 60.20%). Both MXE (88.0%) and EPE (79.75%) in this group were comparable to their respective normative values (83.2% and 69.2%).</div></div><div><h3>Conclusion</h3><div>Our findings demonstrate that postural control is compromised in children with ALL undergoing consolidation therapy. Elevated sway speeds on firm surfaces suggest diminished balance performance, while the mixed results on foam conditions highlight difficulties with sensory integration. These preliminary observations underscore the need for targeted interventions and further research with larger samples to clarify the mechanisms behind these deficits.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103883"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LANDSCAPE OF SOMATIC MUTATIONS OF MYELOPROLIFERATIVE NEOPLASMS IN PAKISTANI PATIENTS","authors":"Mehreen Ali Khan","doi":"10.1016/j.htct.2025.103901","DOIUrl":"10.1016/j.htct.2025.103901","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;This study aimed to screen Myeloproliferative Neoplasm (MPN) patients for four known genetic mutations following their clinical and bone marrow examinations to establish a diagnosis before treatment.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;This descriptive cross-sectional study was conducted at the Armed forces bone marrow transplant center, Rawalpindi, between January 2018 and January 2021. A total of 159 MPN patients who fulfilled inclusion criteria were enrolled. All patients underwent bone marrow biopsy after providing informed consent, history recording, and examination. Peripheral blood samples were screened for somatic mutations in JAK2 V617F, JAK2 exon 12, CALR, and cMPL genes. The JAK2 V617F and cMPL mutations were analyzed using conventional PCR, and the PCR products were analyzed on polyacrylamide gel electrophoresis. JAK2 Exon 12 and CALR mutations were analyzed using the fragment analysis technique. Positive and negative controls were run with each sample. The final results were analyzed using Gene Mapper 5 Software (Applied Biosystems). The gene scan data was interpreted by analyzing the electropherograms and the genotyping data sheet. The data were analyzed using the Statistical Package for Social Sciences (SPSS) version 25.0.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;A total of 159 MPN patients fulfilled the inclusion criteria, with 104 (65.4%) males and 55 (34.6%) females. The median age of patients was 54-years (IQR: 38‒64). Among Philadelphia negative (Ph-ive) MPN patients, 69 (43.4%) were diagnosed with Primary Myelofibrosis (PMF), 60 (37.7%) as Polycythemia Vera (PV), and 30 (18.9%) as Essential Thrombocytosis (ET). The frequency of the JAK2 V617F mutation in PV, ET, and PMF patients was 85%, 51.4%, and 34.5%, respectively. CALR mutation was observed only in 1 PMF and 5 (17.2%) ET patients. Additionally, cMPL mutation was not found among our patients. However, 14 (8.8%) patients were triple negative (negative for the JAK2 V617F, CALR, and cMPL mutations).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;PMF was the most frequent (43.4%) condition among Ph-ive MPN patients, followed by PV 60 (37.7%) and ET 30 (18.9%). The frequency of JAK2 V617F mutation in PV, ET, and PMF patients was 85%, 51.4%, and 34.5%, respectively. CALR mutation was observed only in 5 (17.2%) ET and 1 PMF patient. These five mutations are among the diagnostic criteria established by the World Health Organization, which enable a quick and reliable diagnosis of MPN.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;This study highlights the demographics, diagnosis, and mutations in four genes of MPN patients from a low-income country. PMF was the most frequent (43.4%) among Ph-ive MPN patients, followed by PV 60 (37.7%) and ET 30 (18.9%). The frequency of the JAK2 V617F mutation in PV, ET, and PMF patients was 85%, 51.4%, and 34.5%, respectively. CALR mutation was observed in only 1 PMF and 5 (17.2%) ET patients. These five mutations are among the diagn","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103901"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ANALYSIS OF RESPONSE TO FIRST-LINE THERAPY WITH IMATINIB IN AZERBAIJANI CML PATIENTS","authors":"Aypara Hasanova ,&nbsp;Chingiz Asadov ,&nbsp;Aytan Shirinova ,&nbsp;Gunay Aliyeva ,&nbsp;Zohra Alimirzoyeva","doi":"10.1016/j.htct.2025.103892","DOIUrl":"10.1016/j.htct.2025.103892","url":null,"abstract":"<div><h3>Objective</h3><div>Imatinib mesylate is a selective tyrosine kinase inhibitor that has become the prototype for targeted therapy in hematologic malignancies. The introduction of Imatinib (IM) for the treatment of Chronic Myeloid Leukemia (CML) has significantly altered the natural course of the disease. The drug is specifically designed to inhibit the expansion of cells expressing the BCR/ABL1 fusion gene and receptors for stem cell factor, c-kit tyrosine kinases, and platelet-derived growth factors. To evaluate the response of Azerbaijani patients in the chronic phase of Chronic Myeloid Leukemia (CML) to treatment with imatinib mesylate (400 mg/day), monitored via Real-Time Quantitative Polymerase Chain Reaction (RT-qPCR).</div></div><div><h3>Methodology</h3><div>This study spans from January 2015 to December 2019 and includes 242 patients in the chronic phase of CML. A total of 1,187 samples were collected from these patients at specific intervals: 3–5 months, 6–11 months, 12–17 months, 18–23 months, and ≥24-months after the initiation of IM therapy. Among them, 69 patients had samples analyzed at all time points. The quantification of BCR/ABL1 was performed using RT-qPCR, with ABL1 serving as the control gene. The BCR/ABL1 ratio results were expressed as a percentage according to the International Scale (IS).</div></div><div><h3>Results</h3><div>The molecular response profile of patients with samples from all time intervals (n = 69) showed that during the first interval (3–5 months), 73.9% (51/69) of patients exhibited a 1-log reduction in BCR-ABL1IS transcript levels. At 12–17 months, monitoring indicated that 92.7% (64/69) of patients achieved at least a 1-log reduction, while 72.4% (50/69) attained at least a 2-log reduction. This observation did not apply to the second group, as initial molecular testing for some patients was only performed at 12–18 months or later after starting IM therapy.</div></div><div><h3>Conclusion</h3><div>Unsatisfactory responses can be attributed to improper drug use due to side effects, non-adherence to therapy, delayed monitoring, or secondary resistance to the drug. Proper adherence to treatment and consistent monitoring play crucial roles in therapeutic outcomes. These findings reaffirm the necessity of regular monitoring every three or six months. This study demonstrates that the response to IM in Azerbaijani CML patients in the chronic phase aligns with the responses reported in randomized international studies.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103892"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NEURON SPECIFIC ENOLASE POSITIVE OVARIAN INTERMEDIATE GRADE SERTOLI LEYDIG CELL TUMOR: A RARE CASE REPORT","authors":"Şule Çalişkan Kamiş,&nbsp;Elife Aşut,&nbsp;Begül Yağci","doi":"10.1016/j.htct.2025.103921","DOIUrl":"10.1016/j.htct.2025.103921","url":null,"abstract":"<div><h3>Objective</h3><div>Ovarian Sertoli-Leydig Cell Tumors (SLCTs) are rare sex cord-stromal tumors, accounting for less than 0.5% of all primary ovarian tumors. They are most commonly diagnosed in adolescents and young women and can present with a variety of symptoms, including abdominal pain, a palpable mass, and, in some cases, signs of hormonal imbalance. While tumor markers such as Cancer Antigen-125 (CA-125) may be elevated, Neuron-Specific Enolase (NSE) is not typically associated with these tumors.</div></div><div><h3>Results</h3><div>A 14-year-old girl presented with diffuse abdominal pain and sudden abdominal distension. Laboratory tests revealed elevated CA-125 (65.3 U/mL, normal: 0–35 U/mL) and NSE (13.7 µg/L, normal: 0–12.4 µg/L). Imaging studies, including transabdominal pelvic ultrasound and abdominal Computed Tomography (CT), demonstrated a large, 23 cm right ovarian mass with predominantly solid but focal cystic components, raising suspicion for malignancy. Given the tumor’s size and characteristics, a fertility-sparing right salpingo-oophorectomy and paravertebral retroperitoneal lymph node biopsies were performed. Histopathological examination confirmed an intermediate-grade Sertoli-Leydig cell tumor with frequent mitotic figures but no necrosis.</div></div><div><h3>Conclusion</h3><div>This case is notable as the first reported instance of an SLCT associated with elevated serum NSE levels. While NSE is primarily considered a marker for neuroendocrine tumors and small cell lung carcinoma, its elevation in this case raises questions about its potential role in SLCTs. This finding suggests a need for further research to determine whether NSE could serve as a useful biomarker in the diagnosis or monitoring of SLCTs. Given the rarity of these tumors and the limited data on their tumor marker profiles, additional studies are needed to explore the clinical significance of NSE elevation in SLCTs.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103921"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PREDICTORS OF RESPONSE TO RUXOLITINIB THERAPY IN PATIENTS WITH MYELOFIBROSIS","authors":"Irina Turtanova ,&nbsp;Maria Barabanshchikova ,&nbsp;Elena Morozova ,&nbsp;Tatiana Gindina ,&nbsp;Tatiana Shneyder ,&nbsp;Natalia Dorofeeva ,&nbsp;Roman Vaschenkov ,&nbsp;Nadezhda Medvedeva ,&nbsp;Alexander Kulagin","doi":"10.1016/j.htct.2025.103877","DOIUrl":"10.1016/j.htct.2025.103877","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Presentation Type&lt;/h3&gt;&lt;div&gt;Oral.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Abstract Category&lt;/h3&gt;&lt;div&gt;Adult Hematology Abstract Categories -&gt; Myeloproliferative Neoplasms.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;Since the introduction of targeted therapy for myelofibrosis and the incorporation of ruxolitinib into clinical practice, overall survival rates have significantly improved. Despite initial effectiveness, most patients eventually lose their response, and after stopping treatment, they have poor Overall Survival rates (OS). Currently, response criteria that can predict a response or indicate treatment failure are not well studied in patients receiving ruxolitinib.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Aim&lt;/h3&gt;&lt;div&gt;To analyze therapy with ruxolitinib and identify early predictors of response or treatment failure&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methodology&lt;/h3&gt;&lt;div&gt;The study included 225 patients (79 men and 145 women). The median age at the start of ruxolitinib therapy was 60 years (range 27–84).&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• 149 patients (65%) were diagnosed with primary myelofibrosis;&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• 55 patients (25%) had post-polycythemia vera myelofibrosis;&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• 16 patients (7%) had post-thrombocythemia myelofibrosis;&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• 8 patients (3%) were diagnosed with essential thrombocythemia.&lt;/div&gt;&lt;div&gt;For 169 patients (75%), the time to ruxolitinib therapy initiation was more than two years. According to the DIPSS prognostic scale, 88 patients (39%) were in the intermediate-1 risk group, 110 patients (49%) were in the intermediate-2 risk group, and 26 patients (12%) were in the high-risk group. Most patients (82%) had the JAK2V617F mutation, 13% had a mutation in the CALR gene, 2% had a mutation in the MPL gene, and 4 patients were triple negative. 121 patients (54%) had a normal karyotype, and 51 patients (23%) had an unfavorable karyotype. An enlarged spleen size of more than 10 cm upon palpation was observed in 108 patients.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;The median duration of ruxolitinib therapy was 22 months (range 7–123). In 91% of cases, the therapeutic dose of the drug was 30 mg per day or more, and in 9% it was less due to the presence of thrombocytopenia.&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• Disease stabilization was recorded in 7 patients (35%);&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• Clinical improvement was observed in 86 patients (38%);&lt;/div&gt;&lt;div&gt; &lt;!--&gt;• Disease progression was noted in 60 patients (27%).&lt;/div&gt;&lt;div&gt;In 75% of cases, a reduction in spleen size compared to baseline was achieved, and in 80 patients (40%), some reduction in disease symptoms was observed. In 70% of cases, there was no need for blood transfusion therapy. Ruxolitinib therapy led to an increase in the proportion of patients with low and intermediate-1 risk (53% vs. 39%). At the time of the current analysis, 184 patients (82%) were alive, and 40 patients (18%) had died. Overall survival rates were 72% in the intermediate-1 risk group, 60% in the intermediate-2 group, and 48% in the high-risk group (p &lt; 0.0001).","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103877"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"REVERSAL OF ACCELERATED PHASE CML WITH HIGH BLAST COUNT FOLLOWING 5+2 CHEMOTHERAPY AND DASATINIB: A CASE REPORT","authors":"Büşra Akdoğan ,&nbsp;Ali Turunç ,&nbsp;Birol Güvenç","doi":"10.1016/j.htct.2025.103912","DOIUrl":"10.1016/j.htct.2025.103912","url":null,"abstract":"<div><h3>Introduction</h3><div>Chronic Myeloid Leukemia (CML) typically progresses through chronic, accelerated, and blast phases, with most patients responding well to Tyrosine Kinase Inhibitors (TKIs) in the chronic phase. However, patients with Accelerated-Phase (AP) CML who develop high blast counts and TKI resistance are often considered at risk for transformation into Blast-Phase (BP) CML or secondary AML, requiring intensive chemotherapy or stem cell transplantation. This case highlights a patient with AP-CML who achieved full hematologic and molecular remission after receiving 5+2 chemotherapy and dasatinib, despite a high blast count and a prolonged TKI-free period before treatment initiation.</div></div><div><h3>Case presentation</h3><div>A 44-year-old male was diagnosed with CML (February 2022) and initially treated with imatinib, followed by dasatinib, bosutinib, and nilotinib due to persistent BCR-ABL positivity and extreme thrombocytosis (&gt; 1 million/µL). By October 2024, disease transformation was suspected due to BCR-ABL levels rising to 85% and bone marrow biopsy showing 17% blasts. Notably, the patient had discontinued dasatinib at least three months before hospitalization, further contributing to disease progression. Given the high blast count and persistent thrombocytosis, 5+2 induction chemotherapy (cytarabine + idarubicin) was administered, followed by a reassessment bone marrow biopsy in December 2024, which was inconclusive. Post-chemotherapy, the patient refused further AML-directed treatment and instead resumed dasatinib therapy. Over the following six months, the patient’s hematologic parameters normalized, and repeat bone marrow biopsy confirmed complete remission, demonstrating a remarkable reversal from the accelerated phase.</div></div><div><h3>Conclusion</h3><div>This case illustrates the potential for AP-CML with a high blast count to revert to the chronic phase following 5+2 chemotherapy and re-initiation of TKI therapy. It also underscores the risks associated with TKI discontinuation in advanced CML and suggests that targeted therapy with TKIs can remain effective even after transient chemotherapy-induced cytoreduction. This highlights the importance of individualized treatment approaches in advanced CML and the potential for avoiding AML-directed therapies in select cases.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103912"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLASSIFICATION OF MPN","authors":"Haifa Kathrin Al-Ali","doi":"10.1016/j.htct.2025.103874","DOIUrl":"10.1016/j.htct.2025.103874","url":null,"abstract":"<div><div>The 2022 updated 5^th edition of the World Health Organization Classification of myeloproliferative neoplasms and mastocytosis focused on changes in the rationale behind the classification, combined morphologic, immunophenotypic, molecular, and cytogenetic data that help to refine diagnostic criteria and emphasize therapeutically and/or prognostically actionable biomarkers. While a genetic basis for defining diseases is sought where possible, the classification strives to keep practical applicability in perspective. In addition, a new International Consensus Classification (ICC) has been introduced for myeloid neoplasms and acute leukemia. In the context of MPN, the classical subtypes of MPN remained unchanged; however, the experts made an effort to refine the diagnostic criteria to allow a distinction between subtypes. With refinement of the diagnostic criteria, the hope is that clinicians will be able to distinguish between specific subtypes with greater accuracy and present a more definitive and holistic management for patients from diagnosis through disease monitoring.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103874"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors associated with HIV infection in four large Brazilian blood centers: A multicentric case-control study (2009–2017)","authors":"Fernanda Dominique de Souza Gonçalves ,&nbsp;Flávia da Costa Silva ,&nbsp;Isabel Cristina Gomes Moura ,&nbsp;Cesar de Almeida-Neto ,&nbsp;Brian Custer ,&nbsp;Ester Cerdeira Sabino ,&nbsp;Paula Loureiro ,&nbsp;Carolina Miranda ,&nbsp;Luiz de Melo Amorim Filho ,&nbsp;Tassila Salomon","doi":"10.1016/j.htct.2025.103863","DOIUrl":"10.1016/j.htct.2025.103863","url":null,"abstract":"<div><h3>Background</h3><div>Strategies to reduce contamination by transfusion-transmissible infections are constantly evolving. Over the years, HIV residual risk has decreased in several countries. However, in Brazil a recent study showed that the residual risk remains substantially higher than in other countries. Continuous surveillance of risk behaviors for infection in donors can help in pre-donation screening to reduce the risk of HIV in blood transfusions.</div></div><div><h3>Methods</h3><div>This analysis evaluated risk factors related to HIV infection among blood donors from four large Brazilian blood centers located in São Paulo, Rio de Janeiro, Belo Horizonte and Recife, from 2009–2017. A binary logistic model was used to evaluate any association between risk characteristics and behaviors and the occurrence of HIV. The significant variables were included in a saturated model, to which the backward strategy was applied to arrive at the final model. The analyses were carried out using the R program version 4.1.2 and p-value &lt;0.05 was considered significant.</div></div><div><h3>Results</h3><div>A total of 1507 blood donors were included in the study, 716 were HIV positive and 791 were uninfected controls. Demographics significantly associated with infection were: Male sex, incomplete secondary education, separated/divorced/widowed, and bisexual/homosexual orientation. Behaviors most strongly associated with infection were: workplace exposure, intravenous drugs and men who had sex with other men.</div></div><div><h3>Conclusion</h3><div>The risk factors identified suggest that the blood donor screening process in Brazilian blood centers does not adequately identify donors at increased risk for HIV and further studies should be carried out to support changes to improve the process.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 3","pages":"Article 103863"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PREDİCTİON OF THE RİSK OF LEUKEMİA DEVELOPMENT İN AGED HEALTHY POPULATİON: IMPLEMENTATİON İN THE PUBLİC HEALTH SYSTEM","authors":"Francesco Frassoni ,&nbsp;Roberto Tedone ,&nbsp;Emanuela Marcenaro ,&nbsp;Giorgio Piastra ,&nbsp;Davide Guerr","doi":"10.1016/j.htct.2025.103875","DOIUrl":"10.1016/j.htct.2025.103875","url":null,"abstract":"&lt;div&gt;&lt;div&gt;In the last 10-years, several scientific reports have provided evidence of the accumulation of somatic mutations in Hematopoietic Stem and Progenitor Cells (HSPC) in subjects aged &gt; 50yrs. This phenomenon is defined as Clonal Hematopoiesis of Indeterminate Potential (CHIP). As discovered and developed by Abelson et.al. (Nature. 2018) these mutations are detectable many years before the clinical onset of Acute Myeloid Leukemia (AML) and are potentially linked to its subsequent evolution. It is important to underline that the correlation between mutations and the development of AML does not represent an early diagnosis but only an increased risk of developing AML. The risk depends on many factors: type of mutations, how many cells carry the mutation, and combination of mutations. A risk score has been established (NEJM 2023); according to this study few subjects with CHIP are going to develop AML. Of note: the studies that document these correlations were retrospective. It might be relevant to emphasize that “early diagnosis of AML” does not seem to have, given the dynamics of cellular proliferation, concrete advantages. The identification early in advances of a constellation of mutations and their combinations possibly associated with the risk of developing AML could instead be very effective, if there were drugs targeting specific mutations. From a precision, personalized and participatory medicine perspective, these studies have led us to launch a prospective project on a healthy population of individuals between 50 and 80-years old. We reasoned that this type of screenings based on complex landscapes of genetic mutations will become more and more present in the evolving scenario of predictive medicine. Thus, the company Dedalus Italia S.p.A. designed the model and the software for implementing these screening studies in the Health Services. The project’ name is “SInISA”*. The experimentation is carried out in the territory of the Regional-Health-Service (ASL5) of Eastern Liguria (Italy), with the aim of verifying and evaluating both the organizational model and the technological infrastructure to support it, with the ambition of initially sequencing the DNA with a panel of about 90 genes. The first step was to identify subjects with higher probability of bearing mutations. The first screening element will be the RDW parameter. Subjects with RDW &gt; 15 have higher probability of bearing mutations in blood cells. It was calculated that to identify individuals with RDW &gt; 15 it is necessary start from a population of approx. 12000 subjects This study is based on the free and voluntary participation of citizens. Therefore, this approach opens the doors to the so-called “participatory medicine” which is, and will be, an essential element for the development of these new paths for the management of citizens' health. The objectives are therefore: 1) To verify the correlation of RDW &gt; 15 and presence of mutation in a prospective stud","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103875"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CHARACTERISTICS OF HEMATOLOGICAL MANIFESTATIONS IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS: SINGLE CENTER EXPERIENCE","authors":"Gül Sandal Uzun","doi":"10.1016/j.htct.2025.103931","DOIUrl":"10.1016/j.htct.2025.103931","url":null,"abstract":"<div><h3>Objective</h3><div>Systemic Lupus Erythematosus (SLE) is an autoimmune disease that manifests with various organ involvement, including hematological involvement. The objective of this study was to examine the demographic and clinical information, as well as the hematological involvement characteristics, of SLE patients.</div></div><div><h3>Methodology</h3><div>The study was a single-center retrospective study. Patients with SLE who underwent complete follow-up visits were included in the study according to the classification criteria established by the American College of Rheumatology (ACR) and the Systemic Lupus International Cooperation Clinics (SLICC). A retrospective review of the patients' demographic and clinical information was conducted by examining the hospital's electronic record system. The clinical information, laboratory parameters, and SLE-specific treatments were documented. Patients were divided into sub-phenotypes according to organ involvement, and patients with hematologic involvement (anemia, leukopenia, thrombocytopenia, and splenomegaly) were identified. Statistical analyses were performed using SPSS version 26.0 (SPSS Inc., Chicago, IL, USA). The variables were calculated using visual (histogram and normality plots) and analytical methods (Kolmogorov-Smirnov) to determine whether they were normally distributed. Descriptive analysis was performed using mean ± Standard Deviation (SD) or median and Interquartile Range (IQR).</div></div><div><h3>Results</h3><div>The study included 302 patients with SLE, 87 (34.7.8%) of whom had hematological manifestations. The mean age at diagnosis was 36.4 (±9.8). 237 (78.7%) of these patients were female. Clinical manifestations were observed among the patients, including skin involvement in (54.3%), articular involvement (48%), renal involvement in (26%). The ANA test was positive in 96.2% of patients with hematologic involvement. In addition, 34.7% had high anti-dsDNA autoantibodies and 33% had low C3 levels. Anemia was the most common hematological abnormality, affecting 55.7% of patients. The mean hemoglobin value was 9.7 mg/dL. Autoimmune hemolytic anemia was seen in 13.2% of patients. Thrombocytopenia was present in 9.2% of patients, and leukopenia in 12.2%. 57 (18.8%) SLE patients had secondary antiphospholipid antibody syndrome. 76.8% of patients received glucocorticoids and 81% received hydroxychloroquine treatment. 41% of patients received at least one steroid-sparing agent, including azathioprine, cyclophosphamide, mycophenolate mofetil, and rituximab.</div></div><div><h3>Conclusion</h3><div>The hematologic manifestations of SLE should be evaluated and treated in order to provide a better outcome.</div></div>","PeriodicalId":12958,"journal":{"name":"Hematology, Transfusion and Cell Therapy","volume":"47 ","pages":"Article 103931"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}