Annals of Hematology最新文献

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Promising activity of Selinexor in the treatment of a patient with refractory NUP98-NSD1+/FLT3-ITD + acute myeloid leukemia.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-18 DOI: 10.1007/s00277-025-06312-2
Kun Yang, Beibei Yang, Yali Zhou, Qiuying Huang, Xiaolin Yin
{"title":"Promising activity of Selinexor in the treatment of a patient with refractory NUP98-NSD1+/FLT3-ITD + acute myeloid leukemia.","authors":"Kun Yang, Beibei Yang, Yali Zhou, Qiuying Huang, Xiaolin Yin","doi":"10.1007/s00277-025-06312-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06312-2","url":null,"abstract":"<p><p>Nucleoporin 98 (NUP98) fusion oncoproteins are associated with various hematologic malignancies. Acute myeloid leukemia (AML) with NUP98-NSD1 typically co-occurs with FLT3-ITD mutations, exhibiting poor initial responses to traditional chemotherapy. This case report describes a relapsed and refractory AML case co-expressing NUP98/NSD1 and FLT3/ITD after matched sibling haplo-identical allogeneic hematopoietic stem cell transplantation, achieving molecular remission with a salvage therapy combining selinexor, venetoclax, and azacitidine. To our knowledge, this is the first report demonstrating the effectiveness of this combination therapy for relapsed/refractory NUP98-NSD1+/FLT3-ITD + AML. This report highlights the potential synergy between selinexor and established AML therapies, suggesting a promising approach to improve outcomes for refractory AML patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between HLA-DRB1*04, HLA-DQB1*03, and HLA-DQB1*06 with alloimmunization in transfusion-dependent patients with thalassemia: the first case-control study in Iran.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-18 DOI: 10.1007/s00277-025-06288-z
Masoud Kargar, Gholam Abbas Kaydani, Bijan Keikhaei, Najmaldin Saki, Mohammad Ali Jalalifar
{"title":"Association between HLA-DRB1*04, HLA-DQB1*03, and HLA-DQB1*06 with alloimmunization in transfusion-dependent patients with thalassemia: the first case-control study in Iran.","authors":"Masoud Kargar, Gholam Abbas Kaydani, Bijan Keikhaei, Najmaldin Saki, Mohammad Ali Jalalifar","doi":"10.1007/s00277-025-06288-z","DOIUrl":"https://doi.org/10.1007/s00277-025-06288-z","url":null,"abstract":"<p><p>Transfusion therapy is crucial for treating Transfusion-dependent thalassemia (TDT) patients. However, the production of Alloantibodies presents a substantial challenge for these individuals and impacts their quality of life. The Rh and Kell blood group antigens are particularly susceptible to alloantibody development. This study aims to establish the correlation between HLA-DRB1*04, HLA-DQB1*03, and HLA-DQB1*06 alleles and alloimmunzation in thalassemia patients from Iran. 98 thalassemic patients were recruited for this study (49 alloimmunized and 49 non-alloimmunized). Alloimmunized patients developed Rh and Kell specificities alloantibodies. The two groups were compared based on the results of HLA-DRB1 and HLA-DQB1 genotyping conducted using Sequence-Specific Primers (SSP-PCR). The findings from the antibody screening revealed that the predominant alloantibody detected was Anti-K (95.9%), Anti-E (65.3%), Anti-C (30.6%), Anti-D (28.6%), Anti-c (10.2%), Anti-e (2%), and Anti-k (2%). There was a notable difference in HLA-DQB1*03 between alloimmunized and non-alloimmunized groups, 41.8% vs. 58.2%, respectively. (iP = 0.001, OR = 0.135, CI = 0.036-0.499). There was not any notable relationship between HLA-DRB1*04 and HLA-DQB1*06 alleles and alloimmunization. Our findings indicate that HLA-DQB1*03 may have a protective role in preventing alloantibody production. Thus, HLA-typing, particularly focusing on DQB1*03, can significantly enhance the screening process, leading to improved blood transfusion management, reduced rejection of hematopoietic stem cell transplantation, and minimized blood transfusion complications.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Improved survival in older patients with myeloid malignancies undergoing haploidentical peripheral blood stem cell transplantation with low-dose anti-thymocyte globin (ATG)/post-cyclophosphamide (PTCy)-based regimen for graft-versus-host disease prophylaxis.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-17 DOI: 10.1007/s00277-025-06305-1
Yannan Jia, Xinxin Xia, Jun Yang, Yu Cai, Yin Tong, Huiying Qiu, Chongmei Huang, Kun Zhou, Ying Zhang, Chang Shen, Liping Wan, Xianmin Song
{"title":"Improved survival in older patients with myeloid malignancies undergoing haploidentical peripheral blood stem cell transplantation with low-dose anti-thymocyte globin (ATG)/post-cyclophosphamide (PTCy)-based regimen for graft-versus-host disease prophylaxis.","authors":"Yannan Jia, Xinxin Xia, Jun Yang, Yu Cai, Yin Tong, Huiying Qiu, Chongmei Huang, Kun Zhou, Ying Zhang, Chang Shen, Liping Wan, Xianmin Song","doi":"10.1007/s00277-025-06305-1","DOIUrl":"https://doi.org/10.1007/s00277-025-06305-1","url":null,"abstract":"<p><p>Our study delved into the clinical outcomes of haploidentical peripheral blood stem cell transplantation (haplo-PBSCT) for older patients, utilizing a novel low-dose antithymocyte globin (ATG)/post-cyclophosphamide (PTCy)-based regimen to prevent graft-versus-host disease (GVHD). We juxtaposed these outcomes with transplants from matched unrelated/sibling donors (MUD/MSD) for elderly patients with myeloid malignancies from 2016 to 2023. The study encompassed 127 patients, with 40 undergoing MUD/MSD-PBSCT and 87 receiving haplo-PBSCT. The incidences of grades II-IV and III-IV acute GVHD were similar between the two groups, the haplo-PBSCT cohort displayed a promising trend toward reduced incidence of moderate to severe chronic GVHD compared to MUD/MSD-PBSCT (8.19% vs. 23.40%, P = 0.067). The 2-year disease-free survival (74.11% vs. 59.67%, P = 0.231), overall survival (76.30% vs. 64.00%, P = 0.482) and non-relapse mortality rates (14.73% vs. 5.00%, P = 0.116) were comparable, while haplo-PBSCT exhibited higher graft-versus-host disease-free, relapse-free survival (GRFS) (68.85% vs. 46.61%, P = 0.041) and lower cumulative incidences of relapse (CIR) (11.16% vs. 31.98%, P = 0.010) compared to MUD/MSD-PBSCT. Our findings underscore the potential of haploidentical transplants using a low-dose ATG/PTCy-based regimen to yield improved GRFS and lower CIR in older patients with hematologic malignancies.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic value of circular RNAs expression and their correlation with clinicopathological features in acute myeloid leukemia: a systematic review and meta-analysis.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-15 DOI: 10.1007/s00277-025-06300-6
Yasin Mirazimi, Amir Hossein Aghayan, Amir Atashi, Davood Mohammadi, Mohammad Rafiee
{"title":"Prognostic value of circular RNAs expression and their correlation with clinicopathological features in acute myeloid leukemia: a systematic review and meta-analysis.","authors":"Yasin Mirazimi, Amir Hossein Aghayan, Amir Atashi, Davood Mohammadi, Mohammad Rafiee","doi":"10.1007/s00277-025-06300-6","DOIUrl":"https://doi.org/10.1007/s00277-025-06300-6","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) prognosis is affected by unique factors to each individual and studies have indicated that dysregulated expression of circRNAs may serve as prognostic biomarkers for AML. Therefore, we conducted this study to assess the prognostic value of circRNAs expression and it's correlation with clinicopathological features. Comprehensive search was conducted in WOS, Scopus, PubMed, Google Scholar, ProQuest, and grey literature. The certainty of evidence was assessed using the modified GRADE approach for prognostic and clinicopathological meta-analysis. The hazard ratio (HR) was employed to assess the prognostic value of dysregulated expression of circRNAs in patient survival, while the risk ratio (RR) was utilized to analyze the correlation between circRNAs and clinicopathological features. Our results demonstrated that dysregulation of circRNAs expression was associated with poor prognosis related to overall survival (OS) indicator (HR:2.05; 95%CI: 1.75-2.40) and also related to non-OS indicators such as (EFS, LFS, RFS, and DFS) (HR:2.09, 95%CI: 1.47-2.97). Priori and post-hoc subgroup analysis was conducted to describe variables that potentially affected heterogeneity and effect size. We also evaluated the association between dysregulated expression of circRNAs and 19 clinicopathological parameters. Our results show that there is significant relationship between the dysregulated expression of circRNAs and the mentioned parameters: type M6 vs. other types (RR:1.51, 95% CI:1.12-2.03), FLT3-ITD mutation (RR:1.17, 95%CI: 1.00-1.36), and risk status (RR:1.35, 95% CI: 1.13-1.60). This systematic review and meta-analysis suggest that the investigation of circRNAs expression changes can serve as valuable biomarkers for the assessment of prognosis in AML patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A predictive diagnostic model for refractory diffuse large B-cell lymphoma: a single-center retrospective cohort study.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-15 DOI: 10.1007/s00277-025-06299-w
Yun Lin, Yang Sun, Chunyuan Li, Yongyue Zhang, Rongjin Zhang, Shumin Wang, Hongmei Jing, Ligang Cui
{"title":"A predictive diagnostic model for refractory diffuse large B-cell lymphoma: a single-center retrospective cohort study.","authors":"Yun Lin, Yang Sun, Chunyuan Li, Yongyue Zhang, Rongjin Zhang, Shumin Wang, Hongmei Jing, Ligang Cui","doi":"10.1007/s00277-025-06299-w","DOIUrl":"https://doi.org/10.1007/s00277-025-06299-w","url":null,"abstract":"<p><p>To develop a baseline predictive model for refractory diffuse large B-cell lymphoma (DLBCL) utilizing imaging data including ultrasound findings and PET-CT in conjunction with clinical parameters. We retrospectively analyzed data from 140 patients with newly diagnosed DLBCL treated at Peking University Third Hospital between January 2018 and January 2023. All patients underwent ultrasound, histopathological examinations and PET-CT examinations. After completing 6-8 cycles of standardized chemotherapy, patients were categorized into refractory and non-refractory groups according to the Lugano International Response Assessment Criteria. Univariate analyses were performed using T-tests and Chi-Squared Tests, and independent risk factors for refractory DLBCL were identified through logistic regression. A nomogram predictive model was constructed using the R package \"rms,\" and its predictive performance was subsequently validated. Univariate analysis and logistic regression identified that blurred margins of the affected lymph nodes in ultrasound images (P < 0.001, OR = 18.238) and IPI score(P = 0.051, OR = 3.131) were significant risk factors for disease progression. The predictive nomogram established for refractory diffuse large B-cell lymphoma demonstrated an area under the receiver operating characteristic curve (AUC) of 0.835, with a sensitivity of 85.5% and specificity of 79.5%. Following internal validation, the predictive model exhibited a high degree of alignment between the estimated risk of refractory diffuse large B-cell lymphoma and the actual observed progression events. The prediction model of the R-DLBCL prediction model, amalgamating ultrasonic characterizations and clinical indicators, proves instrumental in identifying high-risk DLBCL groups.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case report: single-cell transcriptome sequencing reveals the clonal origin of mature plasmacytoid dendritic cell proliferation in early T-cell precursor lymphoblastic leukemia.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-14 DOI: 10.1007/s00277-025-06301-5
Longyi Zhang, Yan Lu, Jinwen Jiang, Gongqiang Wu
{"title":"Case report: single-cell transcriptome sequencing reveals the clonal origin of mature plasmacytoid dendritic cell proliferation in early T-cell precursor lymphoblastic leukemia.","authors":"Longyi Zhang, Yan Lu, Jinwen Jiang, Gongqiang Wu","doi":"10.1007/s00277-025-06301-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06301-5","url":null,"abstract":"<p><strong>Introduction: </strong>Mature plasmacytoid dendritic cell proliferation (MPDCP) is generally considered to be associated with myeloid neoplasms. To date, case reports of MPDCP associated with lymphoid malignancies are exceedingly rare.</p><p><strong>Case report: </strong>Herein, we report the case of a 69-year-old male who presented with multiple enlarged preauricular, cervical, inguinal, and axillary lymph nodes. A comprehensive analysis, including morphology, immunophenotyping, and histopathology, confirmed a diagnosis of early T-cell precursor acute lymphoblastic leukemia with MPDCP. Single-cell RNA sequencing identified a transcriptional continuum between T-ALL blasts and pDCs, indicating a potential developmental relationship between these cell types. During the 9-month follow-up period, the patient survived and achieved complete remission.</p><p><strong>Conclusion: </strong>This case highlights the presence of MPDCP in lymphoid malignancies and utilizes single-cell RNA sequencing technology to provide insights into the potential link between pDC and lymphocyte differentiation and development. However, further studies are needed to confirm these findings and explore their clinical implications.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unraveling the multifaceted roles of peroxiredoxins in sickle cell anemia: implications in redox and inflammation adaptations. 揭示过氧化还原酶在镰状细胞性贫血中的多方面作用:对氧化还原和炎症适应的影响。
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-14 DOI: 10.1007/s00277-025-06294-1
Karen Simone Romanello, João Pedro Maia de Oliveira da Silva, Flaviene Felix Torres, Karina Kirschner Lopes Teixeira, Igor de Farias Domingos, Gabriela da Silva Arcanjo, Diego Antônio Pereira Martins, Aderson da Silva Araujo, Marcos André Cavalcanti Bezerra, Iran Malavazi, Danilo Grünig Humberto da Silva, Anderson Ferreira da Cunha
{"title":"Unraveling the multifaceted roles of peroxiredoxins in sickle cell anemia: implications in redox and inflammation adaptations.","authors":"Karen Simone Romanello, João Pedro Maia de Oliveira da Silva, Flaviene Felix Torres, Karina Kirschner Lopes Teixeira, Igor de Farias Domingos, Gabriela da Silva Arcanjo, Diego Antônio Pereira Martins, Aderson da Silva Araujo, Marcos André Cavalcanti Bezerra, Iran Malavazi, Danilo Grünig Humberto da Silva, Anderson Ferreira da Cunha","doi":"10.1007/s00277-025-06294-1","DOIUrl":"https://doi.org/10.1007/s00277-025-06294-1","url":null,"abstract":"<p><p>Sickle cell anemia (SCA) presents a complex interplay of factors, with the production of high levels of reactive oxygen species (ROS) and the chronic inflammatory process leading to chronic oxidative stress. In this context, efficient action of antioxidant systems becomes crucial, with particular emphasis on peroxiredoxins (PRDXs) due to their abundance and vital roles. Our primary objective was to establish associations between gene and protein expression of PRDXs 1, 2, and 6, as well as their reducers TRX1, TRXR1, and SRX1, with the characteristic hyperoxidative status observed in SCA patients. Concomitantly, we assessed the production of other essential antioxidant enzymes (SOD1, CAT, and GPX1) in reticulocytes and erythrocytes and explored mRNA levels of the NRF2/KEAP1/PKCδ complex. Our comprehensive analysis revealed a ∼ 3-fold elevation in ROS levels in erythrocytes of patients compared to healthy individuals. However, the NRF2/KEAP1/PKCδ complex exhibited a significant reduction in gene expression, hinting that another transcription factor may regulate the antioxidant response among SCA patients. In addition, the pattern of increased transcript levels of antioxidants in SCA patients was not associated with their protein levels, indicating a possible degradation by proteasome. The protein content of PRDX2 showed a significant reduction, indicating an increased vulnerability of these cells to oxidative damage. Intriguingly, both PRDXs 1 and 2 exhibited significant increases in the plasma of SCA patients, indicating that, besides their well-known intracellular antioxidant role, these enzymes may also play a vital extracellular role in modulating inflammation in these individuals. Our findings unveil novel insights into the redox metabolism adaption of erythroid cells in response to the presence of HbS in homozygosity, thus, into the complex SCA pathophysiology. Moreover, our study reveals the simultaneous presence of both PRDXs 1 and 2 in the plasma of these patients, thereby offering valuable implications for potential prognostic and therapeutic avenues.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metabolomics and machine learning approaches for diagnostic biomarkers screening in systemic light chain amyloidosis.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-13 DOI: 10.1007/s00277-025-06302-4
Weiwei Xie, Zhizhen Lai, Qian Wang, Wenqiong Wang, Jin Wang, Huihui Liu, Zeyin Liang, Yujun Dong
{"title":"Metabolomics and machine learning approaches for diagnostic biomarkers screening in systemic light chain amyloidosis.","authors":"Weiwei Xie, Zhizhen Lai, Qian Wang, Wenqiong Wang, Jin Wang, Huihui Liu, Zeyin Liang, Yujun Dong","doi":"10.1007/s00277-025-06302-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06302-4","url":null,"abstract":"<p><p>Delayed diagnosis of systemic light chain (AL) amyloidosis is common and associated with worse survival and early mortality. Current diagnosis still relies on invasive tissue biopsies, highlighting the need for sensitive, noninvasive biomarkers for early diagnosis. This study aims to identify promising biomarkers for the early diagnosis of AL amyloidosis. Peripheral venous blood samples from 70 newly diagnosed systemic AL amyloidosis patients, 48 newly diagnosed multiple myeloma (MM) patients, and 29 healthy controls (HCs) were analyzed using high-performance liquid chromatography-mass spectrometry. Metabolomic profiling revealed distinct metabolic differences between the AL group and the controls (HCs and MM). Machine learning further identified that phytosphingosine and asymmetric dimethylarginine were significantly up-regulated in the AL group compared with HCs group, with area under curve (AUC) values of 0.990 and 0.904, sensitivity and specificity of (97%, 100%) and (88%, 93%), respectively. Compared with MM group, phytosphingosine was also significantly up-regulated in the AL group, with an AUC value of 0.779, sensitivity and specificity of (62%, 88%). Pathway analysis showed significant changes in starch and sucrose metabolism pathway, as well as pentose and glucuronate interconversions pathway between the AL and the controls. Metabolomics combined with machine learning identified phytosphingosine as a promising biomarker for early diagnosis of AL amyloidosis. Two metabolic pathways (starch and sucrose metabolism, pentose and glucuronate interconversions) may reflect the key pathological processes involved in the development and progression of AL amyloidosis. Further confirmation studies are warranted to validate its value in this field.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epidemiological and clinical characteristics of children and young adults with Glanzmann's thrombasthenia in upper Egypt: a multicenter cross-sectional study.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-13 DOI: 10.1007/s00277-025-06290-5
Gehan Lotfy Abdel Hakeem Khalifa, Amr Abdallah El-Sayed, Zahraa Elmasry, Khalid I Elsayh, Zizi T Atwa, Dalia Saber Morgan, Ebtesam Esmail Hassan, Mohmed A Hassan, Mervat A M Youssef
{"title":"Epidemiological and clinical characteristics of children and young adults with Glanzmann's thrombasthenia in upper Egypt: a multicenter cross-sectional study.","authors":"Gehan Lotfy Abdel Hakeem Khalifa, Amr Abdallah El-Sayed, Zahraa Elmasry, Khalid I Elsayh, Zizi T Atwa, Dalia Saber Morgan, Ebtesam Esmail Hassan, Mohmed A Hassan, Mervat A M Youssef","doi":"10.1007/s00277-025-06290-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06290-5","url":null,"abstract":"<p><strong>Background: </strong>Glanzmann's thrombasthenia (GT) is an inherited rare bleeding disorder characterized by a deficiency or functional defect in the platelet αIIbβ3 integrin. This impairs normal platelet aggregation and leads to prolonged and spontaneous mucocutaneous bleeds.</p><p><strong>Objectives: </strong>To report disease characteristics of a GT cohort from five tertiary hospitals in Upper Egypt.</p><p><strong>Materials and methods: </strong>We conducted a retrospective cross-sectional observational study, relying on patients' medical records and interview surveys to collect information from patients diagnosed with congenital GT between October 2023 and April 2024.</p><p><strong>Results: </strong>We recruited 131 people with GT (PwGT) of different ages, mainly children and adolescents. 73.3% of the study cohort had type I GT, 23.7% had type II GT, and 3% had type III GT. Consanguinity and family history were prevalent in our cohort, with an expected prevalence of more than one per 200,000 in our region. The median value of ADP aggregation was 8%. In type I GT, the median levels of CD41 and CD61 were 0.3%. In contrast, type II GT had median levels of 12% for CD41 and 17% for CD61. The most frequent manifestations were epistaxis (77.1%), subcutaneous bleeds (40.5%), menorrhagia (22.1%), and mucosal bleeds (18.3%). 72.5% of PwGT used rFVIIa and 69.5% used platelet transfusions to treat acute and surgical bleeds, while only 6.9% used tranexamic acid as monotherapy.</p><p><strong>Conclusion: </strong>Estimating the actual burden of GT in Egypt requires accurate diagnoses, as well as systematic and standardized data collection. The rooted consanguinity pattern in Upper Egypt contributes to a higher prevalence of GT above the country's average.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TIGIT/PVR axis regulates anti-tumor immunity in hematologic malignancies.
IF 3 3区 医学
Annals of Hematology Pub Date : 2025-03-13 DOI: 10.1007/s00277-025-06304-2
Fanqiao Meng, Maoyuan Xiang, Yu Liu, Dongfeng Zeng
{"title":"TIGIT/PVR axis regulates anti-tumor immunity in hematologic malignancies.","authors":"Fanqiao Meng, Maoyuan Xiang, Yu Liu, Dongfeng Zeng","doi":"10.1007/s00277-025-06304-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06304-2","url":null,"abstract":"<p><p>Hematologic malignancy stands as a grave form of cancer characterized by its arduous treatment and heightened likelihood of recurrence. Over the recent years, immunotherapy has progressively evolved into a pivotal approach for addressing hematologic malignancies. As a novel inhibitory receptor of NK and T cells, TIGIT is similar to PD-1, and blocking TIGIT can play a huge anti-tumor effect. At present, target TIGIT is still in clinical trials. Within this context, the TIGIT/PVR axis, serving as a pivotal element within the immunomodulatory framework, assumes a critical role in tumor immunity orchestration. This composition delves into the advancement of research concerning the TIGIT/PVR axis within hematologic malignancies, elucidating its mechanism for impeding anti-tumor immune responses. Furthermore, potential therapeutic avenues are explored, encompassing immunotherapeutic strategies aimed at targeting the TIGIT/PVR axis, alongside the conceivable integration with alternative immune checkpoint inhibitors. Ultimately, the paper encapsulates forthcoming research trajectories, aspiring to provide a compass for deeper comprehension of the TIGIT/PVR axis's role within hematologic malignancies, consequently fostering the creation of more potent immunotherapeutic tactics. This review details the therapeutic prospects of TIGIT in hematological malignancies, which is expected to advance research targeting TIGIT in hematological malignancies and bring hope for survival to these patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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