Annals of Hematology最新文献

{"title":"Patients with follicular lymphoma should be treated according to baseline PET-CT findings with targeted re-biopsy.","authors":"Anni Nyyssönen, Outi Kuittinen, Tero Vuolio, Elias Vaattovaara, Aino Rajamäki, Taina Turpeenniemi-Hujanen, Marc Sorigue, Hanne Kuitunen, Milla E L Kuusisto","doi":"10.1007/s00277-025-06609-2","DOIUrl":"https://doi.org/10.1007/s00277-025-06609-2","url":null,"abstract":"<p><p>Although the increasing use of PET-CT has enabled improvements in staging and confirmation of a suspected histological transformation of follicular lymphoma (FL), the disease is still characterised by varied courses and outcomes. Our aim was to determine, whether diagnostic PET-CT could be effective in preventing early progression, particularly disease progression within 24 months of started therapy (POD24). Patient data of 177 grade 1-3a FL patients treated in Oulu University Hospital between years 2000 and 2020 was retrospectively reviewed. Staging of 59 patients included PET-CT before first-line treatment, when excluding two patients who were found to be primary transformed based on their PET-CT. 25 (42.4%) of the 59 patients were also re-biopsied based on the staging results. The control group consisted of 118 non-PET-CT staged patients who received systemic therapy for their disease. The use of PET-CT at the time of the diagnosis was determined by clinician based on the clinical course of the individual patient. In the PET-CT staged group four transformations were noted during follow-up and six cases of POD24 occurred. In comparison, fifteen transformations (p = 0.306) and 18 POD24 (p = 0.486) occurred in the reference group. A high SUVmax was indicative of worse outcomes (p = 0.016) but survival was not improved in the re-biopsied subgroup. Diagnostic PET-CT enhanced disease course as time to progression was superior in the group of PET-CT staged patients (p = 0.038). Our results suggest that PET-CT is a valuable diagnostic tool at baseline which may help to identify patients at risk for POD24 leading to better survival.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231348","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":"Management and outcomes of refractory immune thrombocytopenia in pediatric patients: A retrospective analysis from Ospedale Pediatrico Bambino Gesù.","authors":"Gabriele Canciani, Anna Cascone, Antonio Musolino, Antonio Torelli, Emanuela Monteferrario, Giuseppe Palumbo, Giulia Ceglie","doi":"10.1007/s00277-025-06542-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06542-4","url":null,"abstract":"<p><p>Immune thrombocytopenia (ITP) in pediatrics is typically self-limiting, yet a subset develops refractory ITP (rITP), which persists despite standard first-line treatments. Clinical evidence on the efficacy of second-line therapies in this condition, such as mycophenolate mofetil (MMF), rituximab (RTX) and romiplostim, remains limited. This study aims to evaluate the efficacy of second-line therapies for the management of rITP in a cohort of 33 pediatric patients treated at Ospedale Pediatrico Bambino Gesù over a 16-year period. Some of these patients switched second-line therapies due to inadequate clinical responses, thus receiving more than one treatment over the study period. Collectively, patients in our cohort received MMF (n = 20), RTX (n = 16), romiplostim (n = 15), dapsone (n = 3) and sirolimus (n = 2). Response rates were 50% (10/20) for mycophenolate mofetil (MMF), 18.8% (3/16) for rituximab, and 66.7% (10/15) for romiplostim. None of the 3 patients treated with dapsone showed clinical benefits. One of the two patient undergoing sirolimus achieved a sustained clinical response. Combination therapies showed promising results, particularly the association of MMF and romiplostim. Our results provide new insights into the management of pediatric rITP, while highlighting the need for further studies to establish evidence-based treatment guidelines and improve outcomes of this condition.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211556","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":"Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.","authors":"Jiangfen Wu, Lei Wang, Zhenju Jin, Lingyan Ren, Yinghong Shi, Ying Zhou, Guohui Meng, Aiping Mao, Di Cui, Bangquan An, Shengwen Huang","doi":"10.1007/s00277-025-06394-y","DOIUrl":"https://doi.org/10.1007/s00277-025-06394-y","url":null,"abstract":"<p><p>This genetic epidemiological study aimed to investigate the prevalence of various types of thalassemia among the Buyi population in Qiannan Prefecture, Guizhou Province, China. A total of 1,003 Buyi individuals from five regions in Qiannan Prefecture were enrolled for this study. Peripheral blood samples were collected for routine blood testing and hemoglobin electrophoresis. Thalassemia-related variants were identified using third-generation sequencing (TGS). The overall carrier rate of thalassemia in the Buyi population was 22.83% (229/1003). The carrier rates of α-thalassemia, β-thalassemia, and δ-thalassemia were 16.15% (162/1003), 6.68% (67/1003), and 1.20% (12/1003), respectively. The most common α-thalassemia genotype was -α^3.7/αα (32.89%), followed by --^SEA/αα (25.66%). Structural variants ααα^anti3.7/αα and ααα^anti4.2/αα were also identified, accounting for 5.26% and 1.32% of the α-globin gene variant genotypes, respectively. For β-thalassemia, the most frequent genotypes were β^{CD17(AAG> TAG)}/β^N (45.61%) and β^{CD41/42(-CTTT)}/β^N (43.86%), with β⁰-thalassemia accounted for 96.49% of β-thalassemia. Thalassemia is highly prevalent in the Buyi population of Qiannan Prefecture. The variant frequencies observed in this population differ from those in other populations in China. TGS proves to be an effective tool for thalassemia screening, particularly in regions with high prevalence.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211410","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":"Transcriptome-based molecular subgroup identification and prognosis stratification in pediatric AML.","authors":"YuWei Huang, MuYao Yang, JiaQi Hu, TingYuan Lang, JianWen Xiao","doi":"10.1007/s00277-025-06634-1","DOIUrl":"https://doi.org/10.1007/s00277-025-06634-1","url":null,"abstract":"<p><p>Current risk subgroups for acute myeloid leukemia (AML) rely primarily on molecular and cytogenetic markers. These subgroups have distinct clinicopathological and molecular characteristics and are the basis for classifying disease subgroups currently undergoing clinical trials and initial subgroup-oriented therapies. However, substantial biological heterogeneity and differences in survival are apparent within each subgroup, so transcriptome-based molecular subgroup identification and prognostic stratification in pediatric acute myeloid leukemia remain to be resolved. In this study, we conducted a comprehensive analysis of transcriptomic data for AML using data from public datasets and constructed a new prognostic prediction model. We first downloaded the transcriptome data of the GDC Data Portal and the gene set of MsigDB for survival and cluster analysis and reclassified AML into 8 different molecular subgroups. The expression profiles, changes in the immune microenvironment, biological functions and pathways, and clinical features among these subpopulations were further studied. The classification prediction model is then developed using four machine learning algorithms: RF, SVM, XGBoost, and DT. The XGBoost method showed the best performance. The vital feature variables in XGBoost suggest that HSD17B10, NDUFS8, ASCL5, FADS2, and COX8A were critical factors in identifying the prognosis of AML. We only found that NDUFS8 and FADS2 had been reported in AML, and the remaining three gene new prognostic markers for AML have not been reported before, but they have all been reported to be associated with cancer. we identified eight transcriptome-based molecular subgroups of AML and further assessed differences in the molecular landscape, immune networks, and signaling pathways underlying these subpopulations. Additionally, the prognostic models comprising 62 genes was proposed and demonstrated to have remarkable predictive value. Overall, we identified a new molecular subpopulation of AML, which improved disease risk stratification and established a prognostic model for AML, which demonstrated favorable performance in retrospective validation. Since this study relies on retrospective data, further prospective analysis is required to confirm its ability to accurately reflect patient prognosis.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205510","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":"Acquired Gray platelet syndrome as a rare hematologic complication in a case of JAK2-positive post polycythemia Vera myelofibrosis.","authors":"Aishwarya Pradeep, Ayo S Falade, Juliana Perez Botero, Dong C Chen, Rajiv K Pruthi, Aasiya Matin","doi":"10.1007/s00277-025-06587-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06587-5","url":null,"abstract":"<p><p>We report the case of a 70-year-old male with a history of JAK2 mutation-positive post-polycythemia vera myelofibrosis and an acquired bleeding disorder. Investigations revealed platelet dysfunction, and platelet electron microscopy demonstrated an acquired gray platelet syndrome. His platelet function improved with desmopressin administration, and he successfully underwent a central venous catheter placement and hematopoietic stem cell transplant with no bleeding complications. Follow up testing demonstrated normalization of platelet function testing and resolution of his acquired gray platelet syndrome.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205449","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":"Lenalidomide-rituximab with high-dose methotrexate for treatment of patients with newly diagnosed primary cns lymphoma: a promising first-line approach.","authors":"Xiaoli Chang, Huanyuan Wang, Yixian Guo, Qiang Ma, Zhilian Zhao, Dongmei Zou, Jing Ni, Ronghua Hu, Hong Zhao, Wuhan Hui, Li Su, Wanling Sun","doi":"10.1007/s00277-025-06593-7","DOIUrl":"https://doi.org/10.1007/s00277-025-06593-7","url":null,"abstract":"<p><p>Primary central nervous system lymphoma (PCNSL) is a rare and aggressive malignancy with limited treatment options and presents significant therapeutic challenges. Although high-dose methotrexate (HD-MTX)-based immunochemotherapy, followed by autologous stem cell transplantation (ASCT), improves outcomes in patients with PCNSL, in clinical practice, ASCT eligibility is frequently restricted by medical unsuitability, patient choice, and socioeconomic factors. In this retrospective study, we evaluated 12 newly diagnosed PCNSL patients who were treated with a combination of rituximab, HD-MTX, and lenalidomide (R2-MTX) without ASCT. With a median follow-up of 43.0 months, the R2-MTX regimen demonstrated superior clinical efficacy, achieving an overall response rate (ORR) of 91.7% (95% CI: 61.5-99.8%), with a complete response (CR) rate of 66.7% at the end of induction therapy. The median overall survival (OS) was not reached, while the median progression-free survival (PFS) was 62 months (range: 6-64 months). The estimated 2- and 5-year OS rates were 91.7% (95% CI: 76.0-100%) and 70.7% (95% CI: 52.1-99.3%), respectively, with corresponding PFS rates of 66.7% (95% CI: 50.1-93.3%) and 57.1% (95% CI: 34.5-83.7%), respectively. Treatment-related toxicities were manageable, with no grade ≥ 3 adverse events observed. The most common adverse effect was neutropenia (46.2%). Notably, patients with CARD11 mutations experienced a high rate of early relapse despite lenalidomide treatment. In conclusion, the R2-MTX regimen showed encouraging efficacy and a manageable safety profile in a small cohort of newly diagnosed PCNSL patients unsuitable for ASCT. These preliminary findings suggest that R2-MTX may be a promising therapeutic alternative, but validation in larger, prospective multicenter studies is warranted.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205468","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: Prognostic value of dynamic minimal residual disease monitoring for adolescent and adult T-lymphoblastic leukemia/lymphoma.","authors":"Ying Yang, Xin Zhang, Nenggang Jiang, Yongmei Jin, Yu Liu, Hongyan Liao","doi":"10.1007/s00277-025-06665-8","DOIUrl":"https://doi.org/10.1007/s00277-025-06665-8","url":null,"abstract":"","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197933","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":"Codanin-1, defective in congenital dyserythropoietic anemia I (CDA-I), regulates erythroid differentiation.","authors":"Linette Bosques, Susree Modepalli, Arvindhan Nagarajan, Caroline Tang, Sandra Martínez-Morilla, Nur-Taz Rahman, Sameet S Mehta, Diane S Krause, Hannah Tamary, Patrick G Gallagher, Shilpa M Hattangadi, Gary M Kupfer","doi":"10.1007/s00277-025-06540-6","DOIUrl":"https://doi.org/10.1007/s00277-025-06540-6","url":null,"abstract":"<p><strong>Background: </strong>Congenital dyserythropoietic anemia type I (CDA-I) is an autosomal recessive disorder marked by ineffective erythropoiesis, abnormal morphology of bone marrow erythroblasts, and iron overload. Most cases of CDA-I are caused by mutations in the CDAN1 gene, which encodes a ubiquitous protein of unknown function, Codanin-1.</p><p><strong>Methods: </strong>To investigate the role of Codanin-1 in the molecular pathways involved in CDA-I, we developed erythroid models using human K562 cells and primary human CD34 + cells from mobilized peripheral blood.</p><p><strong>Results: </strong>Here we show that Codanin-1 expression is required for erythroid progenitor development and normal erythroid cell differentiation. Erythroid cells lacking Codanin-1 demonstrated morphologic changes similar to those observed in CDA-I. Global gene expression changes after Codanin-1 knockdown revealed alterations in a set of key erythroid genes. In particular, the AHSP gene, which showed reduced mRNA and protein expression levels after Codanin-1 knockdown, also demonstrated increased Codanin-1 occupancy at its gene regulatory region by chromatin immunoprecipitation coupled to high-throughput sequencing.</p><p><strong>Conclusion: </strong>In summary, using cell models recapitulating many features of CDA-I, we have studied and confirmed the importance of Codanin-1 during erythroid differentiation and provide mechanistic insight into how loss of Codanin-1 expression results in CDA-I.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197915","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":"Hemophagocytic lymphohistiocytosis caused by dual mutations in UNC13D and STX11 induced by HHV-7: a case report and review of the literature.","authors":"Xiaoqiong Wang, Yao Zhang, Lijuan Zhou, Xiaona Yin, Chuchu Xu, Jiakui Zhang, Fangbin Du, Yongsheng Wang","doi":"10.1007/s00277-025-06611-8","DOIUrl":"https://doi.org/10.1007/s00277-025-06611-8","url":null,"abstract":"<p><p>Hemophagocytic lymphohistiocytosis (HLH) is a severe disorder caused by excessive activation of the immune system and is characterized by hyperinflammation and life-threatening multiple organ failure. We report a case of a 39-year-old female patient with rapidly progressive disease who presented with pancytopenia, coagulopathy, hepatic dysfunction, and hyperlipidemia. Laboratory tests revealed marked cytopenia, hypofibrinogenemia, hypertriglyceridemia, hyperferritinemia, elevated soluble CD25 levels, decreased natural killer cell activity, and hemophagocytosis in the bone marrow, meeting the diagnostic criteria for HLH. The HLH in this case was triggered by human herpesvirus 7 (HHV-7), which has rarely been reported. Genetic analysis revealed compound heterozygous mutations in two HLH-related genes, UNC13D (c.1232G > A) and STX11 (c.121 C > A), which were inherited from the mother and father, respectively, indicating a diagnosis of familial HLH. Hematopoietic stem cell transplantation remains the most effective treatment for this condition. This case highlights the importance of incorporating genetic testing into the early diagnostic workflow for HLH. Early identification of genetic predisposition is crucial for prognosis assessment and the selection of appropriate treatment strategies to improve clinical outcomes.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197885","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":"Treatment of EPOR-rearranged acute lymphoblastic leukemia with ruxolitinib: case reports and review of the literature.","authors":"Yiling Dai, Yuan Ai, Shuwen Sun, Maoting Tang, Jinrong Li, Ju Gao, Mingyan Jiang","doi":"10.1007/s00277-025-06596-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06596-4","url":null,"abstract":"<p><p>Acute lymphoblastic leukemia (ALL) with erythropoietin receptor (EPOR) gene rearrangement is rarely reported. These patients test negative for the Philadelphia chromosome but exhibit a gene expression profile similar to that of Philadelphia chromosome-positive acute lymphoblastic leukemia, leading to their designation as Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL). EPOR-rearranged ALL exhibits aggressive clinical course and dismal prognosis with a short remission duration and high level of minimal residual disease (MRD). The addition of tyrosine kinase inhibitors or Janus kinases inhibitors to conventional chemotherapy is an effective treatment approach for patients with Ph-like ALL. Here, we present two pediatric cases of Ph-like ALL with EPOR rearrangement that were treated with ruxolitinib and provide a literature review to assess the effectiveness of this treatment.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184521","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}