Annals of Hematology最新文献

{"title":"Primary effusion lymphoma with biphenotypic and bigenotypic features of T-cell receptor and IGH genes in an HIV-negative patient with kidney transplant.","authors":"Taesung Jeon, Young-Hyeh Ko, You-Na Sung, Hyunsung Kim, Ka-Won Kang, Jong-Min Sim, Yeseul Kim","doi":"10.1007/s00277-025-06396-w","DOIUrl":"https://doi.org/10.1007/s00277-025-06396-w","url":null,"abstract":"","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084642","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}

{"title":"Real-world study on patient characteristics, treatment patterns and outcomes for treated patients with chronic lymphocytic leukemia during 2013-2022 in Finland.","authors":"Juha Ranti, Sanaz Jamalzadeh, Eleonora Mäkelä, Johanna Vikkula, Essi Havula, Sari Luopajärvi, Vesa Lindström","doi":"10.1007/s00277-025-06595-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06595-5","url":null,"abstract":"<p><p>The aim of this study was to describe the chronic lymphocytic leukemia (CLL) patient population characteristics, treatments, outcomes, and healthcare resource utilization (HCRU) in Finland. All adult patients diagnosed with CLL (ICD-10: C91.1) and small lymphocytic lymphoma (SLL, ICD-10: C83.0) in the regions of Helsinki and Uusimaa (HUS), Southwest Finland (HDSF) and Pirkanmaa (PHD) were identified. The study focused on treated patients initiating first line treatment in 2013-2022. Treatment lines were constructed using all available medication administration and prescription data, categorized into targeted therapies, chemotherapies, chemoimmunotherapies, and other regimens. Analysis employed descriptive statistics, Kaplan-Meier for outcomes, and Sankey plots for treatment patterns. Targeted therapies were most commonly used as the first treatment line during 2018-2022, while between 2013 and 2017, the most common treatments were chemotherapy and chemoimmunotherapy. The 3-year survival rate of CLL patients in HUS, HDSF and PHD areas increased from 69% (95% CI: 64.3, 72.5) during 2013-2017 to 73% (95% CI: 66.8, 77.3) during 2018-2022. A notable proportion of patients (N = 596, 64%) had unknown del(17)p/TP53 status, and 79% (N = 740) lacked information on IGHV mutational status during the study period, despite an increase in genetic testing over time. No change in total HCRU events was observed, however a change in the types of outpatient contacts was identified over time. New treatments have been introduced as they have emerged, concurring with improved outcomes.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084659","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}

{"title":"Impact of inflammatory cytokine polymorphisms on the progression of myelodysplastic syndromes.","authors":"Nanami Gotoh, Tsatsralgerel Munkh-Erdene, Ai Hayashi, Tetsuhiro Kasamatsu, Miri Kitamura, Asumi Kojima, Takafumi Okawa, Tsukasa Oda, Eiji Miyauchi, Nobuo Sasaki, Ikuko Matsumura, Akira Matsumoto, Hisashi Takei, Nobuhiko Kobayashi, Yuri Miyazawa, Yoshiyuki Ogawa, Hiroshi Handa, Takayuki Saitoh","doi":"10.1007/s00277-025-06614-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06614-5","url":null,"abstract":"<p><p>Chronic inflammation is increasingly recognized as a key contributor to tumorigenesis, promoting genomic instability, immune evasion, and malignant transformation. Inflammatory cytokines are particularly involved in the pathogenesis and progression of myelodysplastic syndromes (MDS). This study examined the impact of three cytokine polymorphisms-IFNG + 874 A/T, TNFA - 857 C/T, and IL1B -31 C/T-on MDS susceptibility and clinical characteristics. A total of 105 patients with MDS and 117 healthy Japanese controls were analyzed. High-expression TNFA - 857 C/T was significantly associated with adverse risk categories by the revised International Prognostic Scoring System (high or very high: non-CC vs. CC = 36.4% vs. 7.2%, p < 0.001) and an increased likelihood of transformation to leukemia (non-CC vs. CC = 30.3% vs. 11.6%, p = 0.02). Similarly, IFNG + 874 A/T correlated with a higher risk of leukemic progression (non-AA vs. AA = 33.3% vs. 14.3%, p = 0.04). Moreover, high-expression genotypes of TNFA and IL1B were linked to increased chromosomal abnormalities. In conclusion, our results indicate that high-expression cytokine polymorphisms may contribute to more aggressive forms of MDS. Our findings reveal that the TNFA-857 C/T polymorphism is strongly associated with MDS severity and progression, suggesting its potential as a prognostic biomarker.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084997","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}

{"title":"Correction to: Evaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.","authors":"Haodong Liu, Chunting Peng, Qisheng Su, Shijie Liang, Yuling Qiu, Wuning Mo, Zheng Yang","doi":"10.1007/s00277-025-06633-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06633-2","url":null,"abstract":"","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079105","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}

{"title":"Survival analysis and prognosis model construction of elderly patients with acute promyelocyticleukemia: a retrospective study based on SEER database.","authors":"Jinhong Jiang, Yonghua Liu, Yuxiao Zeng, Yifen Lan, Bingmu Fang","doi":"10.1007/s00277-025-06455-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06455-2","url":null,"abstract":"<p><p>The survival and death cause in elderly acute promyelocytic leukemia (APL) patients were analyzed and a prognosis model was constructed. Retrospectively, the medical data of elderly APL patients (N = 1723, from year 2000 to 2020) were gained from surveillance, epidemiology, and end results (SEER) database, and patients were randomly divided into train set and test set 1 (7:3). Test set 2 was composed of 17 APL patients from our hospital. Single factor and multi-factor analyses were performed by COX regression analysis. Death causes were analyzed among dead APL patients. Prognosis prediction model was constructed and verified. Single factor analysis results showed that age, marital status, income, year of diagnosis, months from diagnosis to treatment and chemotherapy were highly correlated with the death of APL patients. Multi-factor analysis results indicated that age, year of diagnosis and chemotherapy could independently serve as predictors to the death of APL patients. More patient succumbed to APL relative to other causes. The prognosis model had a higher diagnostic value for 0.5-year (AUC = 0.797) overall survival in train set, and for 2-year (AUC = 0.784) overall survival in test set 1. 1-year survival prediction in train set and test set 1 indicated the stability of the model. Age, year of diagnosis and chemotherapy are the independent risk factors, and APL is the leading cause of death in elderly APL patients. The prognosis model has a good clinical prediction value for elderly APL patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079092","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}

{"title":"T-cell acute lymphoblastic leukemia: therapeutic outcomes in adolescents and young adults.","authors":"Emna Azza, Aya Ben Othmen, Maroua Bahri, Roua Hsasna, Raihane Ben Lakhel, Yosr Ben Abdennebi, Lamia Aissaoui","doi":"10.1007/s00277-025-06597-3","DOIUrl":"https://doi.org/10.1007/s00277-025-06597-3","url":null,"abstract":"<p><p>T-cell acute lymphoblastic leukemia (T-ALL) in adolescents and young adults (AYA) poses distinct clinical challenges. This study evaluates the effectiveness and tolerability of a pediatric-inspired regimen in this specific age group, focusing on response rates, survival outcomes, and prognostic indicators. We retrospectively analyzed AYA patients (15-29 years) diagnosed with T-ALL between 2010 and 2020 at Aziza Othmana Hospital, Tunis. All patients received treatment per the EORTC 58,951 protocol. Clinical, cytological, and immunophenotypic data were collected, with special attention to treatment response and minimal residual disease (MRD). Survival outcomes were assessed using Kaplan-Meier estimates, and prognostic factors were examined via uni- and multivariate analyses. Thirty-two patients were included (median age: 20 years; male: female ratio 2.3:1). Complete remission after induction was achieved in 84.4% of cases, with MRD negativity (< 10⁻⁴ at day 35) observed in 42% of patients. At a median follow-up of 62 months, the 5-year overall survival (OS), event-free survival (EFS), and relapse-free survival (RFS) were 62.2%, 62.5%, and 70.8%, respectively. Chemotherapy response at day 19 and MRD negativity were associated with better outcomes, although only relapse occurrence remained independently predictive of OS. Induction mortality reached 9.4%. Relapse occurred in 32.1% of patients, underscoring the need for improved risk stratification. Our findings support the efficacy of pediatric-based protocols in treating AYA with T-ALL. However, high relapse rates and early induction mortality highlight the importance of integrating MRD-guided decisions and enhancing supportive care. Future strategies should incorporate targeted and immune-based therapies to improve long-term outcomes in high-risk subgroups.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079144","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}

{"title":"Prime-time for LncRNA signatures in acute myeloid leukemia?","authors":"Zhiyao Ren, Barbara De Moerloose, Tim Lammens","doi":"10.1007/s00277-025-06616-3","DOIUrl":"https://doi.org/10.1007/s00277-025-06616-3","url":null,"abstract":"<p><p>Long non-coding RNA (lncRNA) signatures have emerged as important prognostic biomarkers in acute myeloid leukemia (AML), stratifying patients into high-risk and low-risk groups and thus providing valuable insights for personalized treatment strategies. The development of these signatures often involves comprehensive bioinformatics analyses, employing various statistical methods to ensure robustness and accuracy. Nevertheless, many reports are flawed by the presence of specific biases and/or incompleteness. Here we performed a comprehensive review of recently identified prognostic lncRNA signatures in AML, including our own report on a 69-lncRNA signature predicting relapse-free survival in pediatric acute myeloid leukemia. Next to their predictive impact we provide insights into their strengths and shortcomings.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079113","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}

{"title":"Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series.","authors":"Fernanda de Oliveira Mota, Silva Regina Caminada de Toledo, Francine Tesser-Gamba, Michele Gaboardi de Carvalho Pires, Juliana Thomazini Gouveia, Indhira Dias Oliveira, Nancy da Silva Santos, Elizabete Delbuono, Bruno Nicolaz Rhein, Renata Fittipaldi da Costa Guimarães, Victor Gottardello Zecchin, Maria Lucia de Martino Lee, Ana Virginia Lopes de Sousa","doi":"10.1007/s00277-025-06437-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06437-4","url":null,"abstract":"<p><p>Survival rate of children with Acute Myeloid Leukemia (AML) improves gradually through cooperative studies. However, the outcome depends on heterogeneous mechanisms. Comprehending the genetic background of pediatric Acute Myeloid Leukemia (AML) is the key to risk stratification. Next Generation Sequencing (NGS) technology uses target panels that may detect additional genetic subsets. The study describes the experience of using NGS for treating pediatric AML patients at an institution. Patients who showed poor outcome aberration were referred to hematopoietic stem cell transplant (HSCT). 11 patients were tested. Aberrations were found in all subjects, mainly only in the NGS panel, indicating referral to HSCT in first remission in 2 cases and helping to outline the genetic features in all cases. The availability of NGS resources has had a therapeutic impact. NGS helped outline the patients' genetic features and decision for HSCT. NGS is a valuable tool in the precision medicine era and should be widely accessible.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074440","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}

{"title":"Genetic biomarkers and crucial cell subsets of iron metabolism in Beta-Thalassemia: insights from bioinformatics and experimental validation.","authors":"Renrong Wei, Dan Qiu, Xiangxing Zeng","doi":"10.1007/s00277-025-06605-6","DOIUrl":"https://doi.org/10.1007/s00277-025-06605-6","url":null,"abstract":"<p><p>Approximately 1.5% of individuals with hemoglobin disorders carry the β-thalassemia gene variant, impacting around 40,000 newborns annually. Given the incomplete understanding of β-thalassemia pathogenesis, there is an urgent need to identify effective biomarkers to advance research, diagnosis, and treatment. This study aims to identify potential biomarkers for two key purposes: (1) diagnosing transfusion-dependent β-thalassemia (TDT) and (2) detecting iron overload complications, with a focus on functional markers that reflect iron metabolism dysregulation in TDT. This study integrates transcriptomic data from the Genome Sequence Archive dataset (CRA003639) with bioinformatics analysis to identify potential biomarkers associated with β-thalassemia. Subsequently, Hbb-bs and Hbb-bt double knockout mice were used to establish a β-thalassemia model, while C57BL/6JCya mice served as the control group, to validate the identified biomarkers through animal experiments. Seventeen reliable cell subsets were identified through rigorous annotation and screening. Quantitative analysis revealed a decreased proportion of immune cells (natural killer [NK] cells, T cells, macrophages, neutrophils, and monocytes) and an increased proportion of erythroid cells in the β-thalassemia group. Cell subset analysis focused on subsets that closely communicated with erythroid cells. Enrichment analysis of driver genes in these subsets revealed iron metabolism-related pathways in Erythroid_02 and Erythroid_03, and a ferroptosis-related pathway in Erythroid_05. Thalassemia model mice exhibited stronger iron ion fluorescence signals in primary hepatocytes, increased levels of total iron, Fe²⁺, and Fe³⁺ in liver tissue, and decreased serum iron (SI) levels, indicating iron metabolism disorders. Reverse transcription polymerase chain reaction (RT-PCR) results showed differential gene expression, with BCL2L1, Hepb1, and Prdx6 downregulated and Spta1 and Snca upregulated in the TDT model group. This study comprehensively characterizes TDT at the cellular and molecular levels, offering insights into its pathogenesis and identifying potential therapeutic targets.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145068957","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}

{"title":"Revisiting hepatitis B vaccination in children with transfusion-dependent thalassemia.","authors":"Angga Wirahmadi, Ludi Dhyani Rahmartani, Pustika Amalia Wahidiyat","doi":"10.1007/s00277-025-06476-x","DOIUrl":"https://doi.org/10.1007/s00277-025-06476-x","url":null,"abstract":"<p><p>Thalassemia is a common hereditary hemoglobinopathy found largely in the \"Thalassemia Belt\". Thalassemia children are at risk of the hepatitis B virus (HBV) infection, given the frequent need for blood transfusions. The immune dysregulation underlying these diseases may lead to defective long-term protection even after full HBV vaccination. This study will evaluate the efficacy of an additional hepatitis B vaccine and will screen the influencing factors that affect immune responses of thalassemia children. All subjects were screened from August 2023 to July 2024 at Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia, where 126 pediatric patients (3-18 years of age) were diagnosed with thalassemia. All the participants had previously received the Indonesian national hepatitis B vaccination program. Seventy two eligible children who exhibited negative immune protection against hepatitis B accordingly received a single booster dose of hepatitis B vaccine. One month later the immune response was assessed by determination of anti-HBs titers. Logistic regression was used to evaluate significant predictors of the anti-HBs titer. Age, gender, type of thalassemia, transfusion interval, ferritin levels, nutritional status, and splenectomy were compared with post vaccine anti-HBs levels. Following the booster, protective immunity was present in 75% of children and high protective titers were present in 50%. The predictors of post-booster anti-HBs level included age (OR = 0.5; CI = 0.2-0.8; p = 0.018) and splenectomy. Children with transfusion-dependent thalassemia, aged over 3 years, are recommended to receive a booster dose of the hepatitis B vaccine.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145068922","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}