Annals of Hematology最新文献

{"title":"When high dose methotrexate stops working, a successful bridge to transplant with TEDDI-R in a case of secondary CNS lymphoma.","authors":"Süreyya Yiğit Kaya, Elif Melek, Yaşa Gül Mutlu, Hüseyin Saffet Beköz, Senem Maral, Leylagül Kaynar, Ömür Gökmen Sevindik","doi":"10.1007/s00277-025-06285-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06285-2","url":null,"abstract":"","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522520","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":"Combined heterozygosity for hemoglobin Paksé, α-thalassemia and for hemoglobin E, β- thalassemia ̵ first appearance in Europe.","authors":"Wolfgang J Schnedl, Georg Leixner, Astrid Voill-Glaninger, Simon Michaelis, Dietmar Enko, Harald Mangge","doi":"10.1007/s00277-025-06286-1","DOIUrl":"https://doi.org/10.1007/s00277-025-06286-1","url":null,"abstract":"<p><p>Hemoglobinopathies are among the most common inherited diseases and they are believed to be one of the major etiologic factors contributing to anemia. Thalassemia is characterized by an altered hemoglobin (Hb) chain synthesis and may appear as alpha-(α-)thalassemia and/or beta-(β-)thalassemia. The clinical manifestations of thalassemia may range from asymptomatic to severe, with the potential to ultimately result in death. The search for an underlying cause was prompted by the discovery of an asymptomatic patient of Thai origin with microcytic anemia and no iron deficiency during a routine hematological examination. Genetic sequencing results revealed Hb Paksé, α2 CD 142 [A > T] (HBA2:c.429 A > T) and HbE β2 CD 26 [G > A] (HBB: c.79 G > A). It is essential that the identification and knowledge of Hb mutations facilitate the clinical recognition, genetic testing, and counseling of patients with thalassemia. The combination of two thalassemia Hb variants, one in the α-globin gene as Hb Paksé and one in β-globin gene as Hb E, in a single individual is occasionally described in East Asia. The first appearance of combined heterozygosity for Hb Paksé, and Hb E in Europe provides evidence that this is the result of a migration-caused occurrence.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522273","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":"Total psoriasis regression in a patient with chronic myeloid leukemia treated using nilotinib.","authors":"Tomáš Horňák, Daniela Žáčková, Jiří Mayer","doi":"10.1007/s00277-025-06228-x","DOIUrl":"https://doi.org/10.1007/s00277-025-06228-x","url":null,"abstract":"<p><p>Chronic myeloid leukemia (CML) treatment has been revolutionized over last 20 years because of tyrosine kinase inhibitors (TKIs) and patients with CML now have life expectancy of general population. Chronic TKI treatment may cause adverse effects (AEs) that vary in frequency and severity. Nilotinib shows common AEs with metabolic changes and skin AEs. Here, we present a case report of patient who experienced full psoriasis regression while treated with nilotinib. Dose reductions and an attempt to stop nilotinib treatment resulted in prompt psoriasis reappearance. This is the first documented case of positive effect of nilotinib on psoriasis.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522440","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":"Comparison of ATG-thymoglobulin with atg-fresenius in patients with hematological malignancies who undergo allogeneic hematopoietic stem cell transplantation: a propensity score-matched analysis.","authors":"Hanyue Zhang, Yuhang Zhou, Kui Zhao, Jiaqi Cui, Xiangzhong Zhang, Ruijuan Wen, Yanling Sun, Xudong Li, Bing Long","doi":"10.1007/s00277-025-06267-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06267-4","url":null,"abstract":"<p><p>We retrospectively compared the outcomes of 166 patients with hematological malignancies who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) using ATG-Thymoglobulin (ATG-T) at 10 mg/kg or ATG-Fresenius (ATG-F) at 20 mg/kg. Propensity score matching (PSM) analysis was applied, with 44 patients assigned to each group. The ATG-T group showed a trend toward a higher incidence of bacterial infections (72.7% vs. 65.9%, P = 0.064). Additionally, the ATG-T group had a significantly higher incidence of other viral infections, including BK virus and herpes zoster virus (40.9% vs. 15.9%, P = 0.003), compared to the ATG-F group. Furthermore, the ATG-F group experienced a lower incidence of high fever (4.5% vs. 50.0%, P < 0.001) and reduced ATG treatment costs [¥ 45100 (28700-82000) vs. ¥ 56250 (38000-85000), P < 0.001] compared to ATG-T. The incidences of acute GVHD, grade III-IV aGVHD, grades of aGVHD, chronic GVHD, 3-year overall survival (OS), transplantation-related mortality (TRM), non-relapse mortality (NRM), disease-free survival (DFS), and GVHD-free and relapse-free survival (GRFS) were similar between the ATG-T and ATG-F groups. In conclusion, our study suggests that ATG-F is superior to ATG-T in terms of viral infections, fever rate, and treatment cost.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522421","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":"Novel AK-1 gene variants combined with thalassemia causing rare hereditary non-spherocytic hemolytic anemia in a Chinese family.","authors":"Lizhu Chen, Xiaobao Wei, Chengcheng Zheng, Xiaoli Liu, Jun Huang, Meiyu Zhang, Hui Chen, Ying Que, Ning Tang, Dejian Yuan, Qingyan Zhong","doi":"10.1007/s00277-025-06289-y","DOIUrl":"https://doi.org/10.1007/s00277-025-06289-y","url":null,"abstract":"<p><p>Adenylate kinase (AK), also referred to as adenosine triphosphate-adenosine monophosphate phosphotransferase, serves an essential function in regulating cellular energy metabolism. A deficiency in red blood cell adenylate kinase 1 (AK-1) is linked to congenital non-spherocytic hemolytic anemia as well as delays in both mental and psychomotor development. This deficiency is an extremely rare autosomal recessive genetic disorder, with 13 highly pathogenic variants of the AK-1 gene documented globally through genetic testing. Thalassemia, a disorder of hemoglobin production, is a common monogenic inherited disease in southern China. Severe forms of thalassemia result in defective hemoglobin synthesis, leading to hemolytic anemia due to the breakdown of red blood cells. A molecular investigation was carried out on a proband with severe hemolytic anemia from a family in Guangxi, China, to identify the underlying cause of the anemia and associated clinical manifestations, offering valuable information for family planning and prenatal counseling. Hematological, biochemical, and thalassemia-specific genetic testing were performed on the proband and family members in relation to chronic hemolytic anemia. Whole-exome sequencing was utilized to detect genetic variants, followed by an analysis of their pathogenic potential. Confirmation was conducted using Sanger sequencing. Prenatal diagnosis was carried out by analyzing amniotic fluid during the mother's second pregnancy. The proband, who presented with severe hemolytic anemia, was diagnosed with the thalassemia genotype^- SEA/αα compound β^CD41-42/β^N. A homozygous mutation, c.464delA (p.Lys155Arg fs*39), was identified in exon 6 of the AK-1 gene. A case of mild thalassemia with severe anemia was investigated, leading to the identification of a novel mutation in the AK-1 gene. Bioinformatics tools predicted the pathogenic nature of this variant, linking it to AK deficiency, which may contribute to the observed severe anemia and associated clinical symptoms.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522424","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":"Rapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.","authors":"Li Huang, Qianqian Zhang, Yuhua Ye, Yong Long, Haoyang Huang, Chao Niu, Bin Lin, Lilan Zeng, Yuxi Wang, Tingting Dai, Xiaoyun Hua, Xiangmin Xu","doi":"10.1007/s00277-025-06277-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06277-2","url":null,"abstract":"<p><p>Fetal hemoglobin (HbF) levels are influenced by various genetic modifiers, which have clinically beneficial effects on both β-thalassemia and sickle cell disease. HbF-associated genetic variants are distributed throughout the genome, and current detection methods are often costly, time-consuming, and require multiple tests. Therefore, developing rapid and economical methods for the simultaneous detection of HbF-associated variants is essential for improving the accurate diagnosis of β-hemoglobinopathies. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) was employed to detect 20 well-documented genetic modifiers in BCL11A, KLF1, HBG2, DNMT1, GATAD2A, and HBS1L-MYB intergenic polymorphism (HMIP). The new assay's accuracy, repeatability, and lowest detection limit were evaluated. It was subsequently applied to 81 samples, and the clinical effects of the modifiers were further verified in a cohort of 560 β-thalassemia patients. The MALDI-TOF MS assays successfully detected all 20 genetic modifiers simultaneously in a single reaction. Genotyping results from 15 repetitions were consistent and accurate, indicating the stability of this assay. The assay's lowest detection limit for DNA was as low as 0.2 ng, sufficient for simultaneous genotyping of all loci. A double-blind evaluation of 81 samples showed 100% concordance with traditional genotyping methods. Significant differences were observed in HbF levels, survival time without transfusion, and clinical classification for the detected genetic modifiers. The MALDI-TOF MS detection assay for HbF-related variants is simple, rapid and high throughput. It enables the detection of 20 genetic modifiers in a single test, supporting accurate large-scale detection and enhancing the precise diagnosis and clinical classification of β-thalassemia.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522427","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":"Efficacy and mechanism of the XPO1 inhibitor selinexor combined with decitabine in T-cell lymphoblastic lymphoma.","authors":"Miaomiao Meng, Xiaoyan Feng, Yue Zhang, Yuyang Gao, Lijuan Han, Zhaoming Li, Xudong Zhang, Mingzhi Zhang","doi":"10.1007/s00277-025-06271-8","DOIUrl":"https://doi.org/10.1007/s00277-025-06271-8","url":null,"abstract":"<p><strong>Purpose: </strong>T-cell lymphoblastic lymphoma (T-LBL) has a poor response to traditional chemotherapy regimens, and is prone to relapse after treatment. Effective drugs are lacking for relapsed and refractory (RR) T-LBL patients, highlighting the need for novel treatments. Selinexor and decitabine have good effects on a variety of hematolymphatic diseases and solid tumors, but how effective they are in treating T-LBL has not been reported. In this study, we first investigated the efficacy and mechanism of selinexor combined with decitabine in the treatment of T- LBL.</p><p><strong>Methods: </strong>The proliferation, apoptosis, and cell cycle progression of T-LBL cells were detected via CCK-8 and flow cytometry. Changes in mRNA expression and protein levels were assessed via mRNA sequencing, quantitative real-time PCR, and Western blotting. SLIT2 expression was detected by immunohistochemistry and Western blotting. Tumor xenograft models were established to evaluate the efficacy of drugs in vivo.</p><p><strong>Results: </strong>Selinexor or decitabine alone inhibited T-LBL cell proliferation in a dose-dependent manner. Cotreatment with both drugs had obvious synergistic effects, promoted cell apoptosis, and induced G0/G1-phase cell cycle arrest in T-LBL cells, and the RNA sequencing results indicated that the tumor suppressor gene SLIT2 might be involved in the synergistic effect of the two drugs. In vivo, this combination showed synergistic antitumor effects in xenograft mouse models.</p><p><strong>Conclusions: </strong>In summary, selinexor in combination with decitabine has significant synergistic effects both in vitro and in vivo and represents a new treatment option for RR T-LBL.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514247","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":"Fertility assessment in long-term young female survivors with hematological disease after allogeneic hematopoietic cell transplantation: a single-center real-life cross-sectional study.","authors":"Yanru Hou, Ziyu Li, Lu Bai, Shuting Li, Jiajia Ai, Cheng Cheng, Li Tian, Yifei Cheng, Jianliu Wang","doi":"10.1007/s00277-025-06275-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06275-4","url":null,"abstract":"<p><p>HSCT has been recognized as a successful treatment for various hematological disease. The 5-year survival rate for children and adolescents diagnosed with hematological disease has risen to over 90% in high-income countries. Nevertheless, it has been reported that between 65 and 84% of individuals who undergo HSCT suffer from premature ovarian failure(POF), with only 0.6% managing to conceive successfully. To report the 5-year experience and evaluate the fertility of young female survivors in HSCT at Peking University People's Hospital, a total of 102 pediatric and female patients aged 8-35 years who underwent HSCT were included. The incidence of POF was 88.2%, 93.9% and 61.5% for young female AML, ALL and AA patients, respectively. The AA group (p = 0.028) had a significantly lower incidence of POF. In the POF group, 89% of patients underwent haploidentical related donor HSCT (p = 0.364) and the cyclophosphamide equivalent dose (CED) of these patients was 10,391 mg/m2 (4890, 10589) (p = 0.222). According to the univariate analysis, an age at HSCT ≥ 13 years (p = 0.007), a diagnosis of AA (p = 0.028), and menarche before and amenorrhea after HSCT (p = 0.016) were associated with POF occurrence. The patients diagnosed with AA had a lower incidence of POF(p = 0.028), while other factors were associated with a higher risk of POF. Multivariate analysis was performed that only age at HSCT was independently associated with POF post-HSCT.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514272","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(14;22)(q32;q11) translocation involving IGH and IGL acquired at progression of splenic marginal zone lymphoma treated with rituximab, ibrutinib, and obinutuzumab.","authors":"Julia T Geyer, Jia Ruan, Michael J Kluk, Liming Bao","doi":"10.1007/s00277-025-06282-5","DOIUrl":"10.1007/s00277-025-06282-5","url":null,"abstract":"<p><p>Translocations involving immunoglobin (IG) are common in B-cell neoplasms. These IG translocations lead to the disposition of the enhancer or promoter of an IG locus, typically IGH, to a proto-oncogene, resulting in the elevated expression of the cancer gene. IG fusions play an important role in the diagnosis, prognostication, and therapy selection of B-cell lymphomas. A t(14;22)(q32;q11) translocation involving IGH and IGL is rare in lymphomas. We report herein clinicopathological characteristics, response to treatment, and outcomes of a first splenic marginal zone lymphoma case with a t(14;22)(q32;q11) translocation involving IGH and IGL treated with rituximab, ibrutinib, and obinutuzumab. Studies of additional cases are needed to elucidate the potential role of the t(14;22) translocation in lymphomagenesis and prognostication.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514338","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":"Azacitidine in combination with HAG for newly diagnosed and relapsed/refractory AML: a prospective cohort study.","authors":"Hong Pan, Zhen Gao, Yu Lian, Jingyu Zhao, Lele Zhang, Weiwang Li, Ruonan Li, Qian Liang, Jing Xu, Liyun Li, Xiao Yu, Zhexiang Kuang, Jun Shi, Liwei Fang","doi":"10.1007/s00277-024-06171-3","DOIUrl":"https://doi.org/10.1007/s00277-024-06171-3","url":null,"abstract":"<p><p>While Azacitidine combined with HAG (HHT, low-dose cytarabine, G-CSF) regimen has shown promise in treating older and unfit patients with acute myeloid leukemia (AML), its efficacy in younger patients remains understudied. This study evaluates the effectiveness and safety of Azacitidine combined with the HAG regimen in a broader patient cohort, including newly diagnosed and relapsed/refractory AML patients. This single-center, prospective cohort included patients with acute myeloid leukemia admitted to our center from June 2019 to Oct 2022 for induction chemotherapy with the HAGA regimen (Azacitidine combined with HAG). We focused on patients' remission rate, MRD (minimal residual disease) conversion and safety. 71 patients with newly diagnosed or R/R AML were enrolled in this study, with a median follow-up time of 20.5 months. After two cycles of HAGA, patients received 3 cycles intermediate-dose Cytarabine and 1 cycle HAGA regimen as consolidation therapies. The CRc (composite complete remission) rate of HAGA regimen as induction chemotherapy for the overall cohort was 85.9% (61/71), which included 71.8% (51/71) CR and 14.1% (10/71) CRi. The CRc with MRD-negative rate was 76.1%. Median OS (overall survival) and DFS (disease free survival) were not yet reached, and the estimated 24-month OS rate was 65.4% (95%CI: 48.4-78.0%), the estimated 24-month DFS rate 66.0% (95%CI: 48.1-79.0%). Only one patient died in induction. The HAGA regimen can be a new option in addition to intense chemotherapy for newly diagnosed or R/R AML, and with high safety.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514244","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}