Annals of Hematology最新文献

{"title":"Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families.","authors":"Yang Wang, Tao Liu, Wen Wang, Yuzhuopu Li, Li Xiao, Yan Xiang, Lan Huang, Yongjie Zhang, Jie Yu","doi":"10.1007/s00277-025-06408-9","DOIUrl":"https://doi.org/10.1007/s00277-025-06408-9","url":null,"abstract":"<p><strong>Background and purposes: </strong>Hereditary spherocytosis (HS) is an inherited hemolytic anemia caused by variants in red blood cell cytoskeleton proteins. Advances in sequencing technology have revealed numerous novel variants; however, accurate genome annotation remains a significant challenge. In precision medicine, the precise identification of variants responsible for genetic diseases is crucial. This study aims to clearly delineate pathogenic variants and provide targeted pathogenicity analyses.</p><p><strong>Methods: </strong>We analyzed clinical data from three unrelated Chinese families with HS. Our investigation delved into the pathogenicity and underlying mechanisms of these variants. In silico simulations and in vitro experiments were employed to assess the effects of the identified variants.</p><p><strong>Results: </strong>We identified three novel heterozygous variants in the ANK1 gene: c.558delG (p.R187Afs*66), c.728T > G (p.L243R), and c.3157 C > T (p.R1053X). In silico analysis indicated that these variants adversely affect the ankyrin-1. Functional studies demonstrated that these variants disrupt the synthesis of ankyrin-1, weakening its interaction with other red blood cell cytoskeleton proteins, which may lead to HS due to the loss of ankyrin-1 function.</p><p><strong>Conclusions: </strong>Our study offers valuable insights into the molecular mechanisms associated with HS linked to three de novo ANK1 variants. These findings deepen our understanding of the pathogenesis of HS and emphasize the critical role of genetic screening in the diagnosis of this condition.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207507","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":"Rituximab efficacy for minimal residual disease eradication in philadelphia-negative acute lymphoblastic leukemia CD20.","authors":"Nicola Cecchi, Mariarita Sciumè, Antony Ricchiuti, Alessandro Bosi, Elena Tagliaferri, Francesco Passamonti, Nicola Stefano Fracchiolla","doi":"10.1007/s00277-025-06332-y","DOIUrl":"10.1007/s00277-025-06332-y","url":null,"abstract":"<p><p>Rituximab has never been investigated in MRD persistence/relapse. We describe a clinical picture of a woman with Ph-negative B-ALL CD20⁺, ineligible to allogeneic transplant, achieving MRD eradication using rituximab monotherapy after frontline chemotherapy and blinatumomab failure. This demonstrates rituximab's potential in MRD⁺ Ph-negative B-ALL CD20⁺, warranting further clinical investigation.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3523-3526"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-courses of blinatumomab combined with reduced dose chemotherapy has been successfully used in chemo-intolerant middle to high-risk pediatric B-ALL patients with invasive fungal disease.","authors":"En-Min Zhou, Yongmin Tang, Chan Liao, Shupeng Lin, Heping Shen, Di Wang, Liyao Xu, Ping Zhang, Hua Song, Xiaojun Xu, Jingying Zhang, Juan Liang, Diying Shen, Fenying Zhao, Weiqun Xu","doi":"10.1007/s00277-025-06432-9","DOIUrl":"10.1007/s00277-025-06432-9","url":null,"abstract":"<p><p>Invasive fungal disease (IFD) remains a challenging complication and a leading cause of death in the treatment of childhood acute leukemia (AL). Blinatumomab is a novel bispecific antibody targeting CD19, with excellent anti-tumor effects against B cell malignancies, including B cell acute lymphoblastic leukemia (B-ALL). Compared with standard chemotherapy, blinatumomab causes less immunosuppression. This report describes two children with B-ALL who experienced recurrent high fever during induction chemotherapy. Next-generation sequencing (NGS) detected Aspergillus in bronchoalveolar lavage fluid, skin tissue, blood, and cerebrospinal fluid. After antifungal therapy, the patients received 9 courses of blinatumomab combined with reduced-dose chemotherapy. Symptoms, signs, and imaging findings improved significantly, B-ALL remained in continuous remission in both patients, and no cytokine release syndrome, neurotoxicity, or fungal infection recurrence occurred. These cases suggest that alternating blinatumomab with reduced-dose chemotherapy is both effective and safe for patients with B-ALL suffering life-threatening infections in the setting of ALL therapy.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3495-3504"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The outcomes of second haploidentical donor transplantation for graft failure in patients with severe aplastic anaemia.","authors":"Ming-Hao Lin, Ya-Jun Wang, Yuan-Yuan Zhang, Yi-Fei Cheng, Yu-Qian Sun, Xiao-Dong Mo, Chen-Hua Yan, Yu-Hong Chen, Yao Chen, Jing-Zhi Wang, Feng-Rong Wang, Ting-Ting Han, Wei Han, Huan Chen, Yu Wang, Xiao-Hui Zhang, Xiao-Jun Huang, Lan-Ping Xu, Zheng-Li Xu","doi":"10.1007/s00277-025-06440-9","DOIUrl":"10.1007/s00277-025-06440-9","url":null,"abstract":"<p><p>This study aimed to evaluate the outcomes of second haploidentical hematopoietic stem cell transplantation (HID-HSCT) for patients with severe aplastic anaemia (SAA) who experienced graft failure. Twenty-one SAA patients with graft failure after first allogeneic (allo-) HSCT were enrolled, including 6 (28.6%) with poor graft function and 15 (71.4%) with graft rejection. Two patients developed primary graft failure after the second transplantation, and the cumulative incidence of neutrophil recovery was 81.0% ± 0.9%, with a median recovery of 13 days (range, 10-23 days). The cumulative incidences of grade II-IV and III-IV acute graft-versus-host disease (GvHD) were 19.0% ± 0.8% and 4.8% ± 0.2%, respectively. The cumulative incidences of chronic GvHD (cGvHD) at three and five years were both 24.5% ± 1.0%, with no severe cGvHD cases. The 5-year overall survival (OS) rate was 47.1% ± 11.0%, with a median follow-up of 2037.5 days (range, 863-3488 days) among survivors. Multivariate logistic regression analysis identified not changing a donor (P = 0.019) as the only adverse factor for graft failure after the second HID-HSCT. Moreover, changing a donor (P = 0.004), compatible donor-recipient blood type (P = 0.005), and patient age < 12 years (P = 0.038) at the second transplantation were significant predictors of improved OS. These findings suggest that a second HID-HSCT could be a feasible option for treating graft failure in SAA patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3469-3476"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of secondary-type mutations on the prognosis of AML patients with NPM1 mutation: a systematic review and meta-analysis.","authors":"Tao Wang, Lei Zhao, Hongbing Ma","doi":"10.1007/s00277-025-06431-w","DOIUrl":"10.1007/s00277-025-06431-w","url":null,"abstract":"<p><p>Nucleophosmin 1 (NPM1) mutation is commonly associated with a favorable prognosis in acute myeloid leukemia (AML). Conversely, secondary mutations such as those in ASXL1, RUNX1, EZH2, and SRSF2 are generally linked to poor outcomes. The combined prognostic impact of NPM1 and secondary mutations in AML patients remains unclear. This meta-analysis aimed to evaluate the prognostic significance of secondary mutations in AML patients harboring NPM1 mutation. A systematic literature search was conducted following PRISMA guidelines, identifying studies published up to June 2024 from databases such as PubMed, Web of Science, and the Cochrane Library. The inclusion criteria included adult AML patients with confirmed NPM1 mutation, detailed reporting of secondary mutations, and comparative prognostic outcomes. Fourteen high-quality studies from twelve publications were included, encompassing 4,022 patients who all carried NPM1 mutations; among these, 618 also harbored secondary mutations. Data extraction and quality assessment were performed independently by two researchers via the Newcastle-Ottawa Scale (NOS). Statistical analyses involved fixed-effects models due to low heterogeneity (I²=0% for OS and I²=35% for EFS/RFS). Publication bias and sensitivity analyses confirmed the robustness of the findings. Secondary mutations were not significantly associated with OS (HR = 1.16, 95% CI: 0.99-1.35, p = 0.07) or EFS/RFS (HR = 1.15, 95% CI: 0.96-1.38, p = 0.14) in the overall NPM1-mutated AML population. However, within the European LeukemiaNet (ELN) favorable prognosis group, the presence of secondary mutations was significantly associated with reduced OS (HR = 1.95, 95% CI: 1.39-2.73, p < 0.01). Subgroup analyses based on median age, geographical region, and allogeneic hematopoietic stem cell transplantation (allo-HSCT) rates did not reveal significant modifiers of the prognostic impact of secondary mutations. Secondary mutations do not significantly adversely affect OS or EFS/RFS in the general population of AML patients with NPM1 mutation. Notably, within the ELN favorable prognosis group, secondary mutations are associated with markedly poorer OS, highlighting the need for careful prognostic assessment and potential treatment strategy adjustments in this subset of patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3103-3115"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of total body irradiation (TBI) and Non-TBI conditioning regimens for allogeneic hematopoietic stem cell transplantation in patients with peripheral T cell lymphoma: a multicenter retrospective study in China.","authors":"Hongye Gao, Jiali Wang, Zhuoxin Zhang, Yannan Jia, Wenbin Cao, Yawei Zheng, Xiaolei Pei, Weihua Zhai, Rongli Zhang, Xin Chen, Qiaoling Ma, Jialin Wei, Donglin Yang, Aiming Pang, Yi He, Sizhou Feng, Hao Zhang, Xin Du, Yao Liu, Dehui Zou, Xianmin Song, Erlie Jiang","doi":"10.1007/s00277-025-06407-w","DOIUrl":"10.1007/s00277-025-06407-w","url":null,"abstract":"<p><p>Allogeneic hematopoietic stem cell transplantation (allo-HSCT) offers a potentially curative treatment for peripheral T-cell lymphoma (PTCL), but the optimal conditioning regimen, particularly the use of total body irradiation (TBI), remains debated. To address this, we investigated outcomes from a cohort of 408 PTCL patients who underwent HSCT across five qualified medical centers in China. Focusing on a subset of 50 patients who received myeloablative conditioning prior to allo-HSCT, we compared outcomes between TBI-based (n = 28) and busulfan-based non-TBI (n = 22) regimens. Our analysis revealed comparable engraftment kinetics, incidence of acute and chronic graft-versus-host disease (GVHD), and overall survival (OS) between the TBI and non-TBI groups. These findings persisted even after propensity score matching (PSM) adjustment. Notably, at a median follow-up of 32.5 months, TBI conditioning was not identified as an independent risk factor for OS, progression-free survival (PFS), cumulative incidence of relapse, or non-relapse mortality. Importantly, non-TBI regimens demonstrated non-inferior OS and PFS compared to TBI, even in high-risk subgroups, including those with multiple prior treatments, elevated prognostic scores, or aggressive histology. Our findings suggest that non-TBI conditioning regimens represent a viable alternative for PTCL patients undergoing allo-HSCT, potentially offering comparable efficacy with reduced toxicity. Larger-scale studies are warranted to validate these findings.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3459-3468"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A predictive algorithm involving lactate dehydrogenase to serum creatinine ratio may assist in identifying patients with thrombotic thrombocytopenic purpura.","authors":"Xuduan Chen, Jiexi Zhang, Jingjing Fu, Xiangye Lin, Wen Li, Zhengjun Wu, Ruyu Cai, Lixin Wei, Xiaofeng Luo","doi":"10.1007/s00277-025-06472-1","DOIUrl":"10.1007/s00277-025-06472-1","url":null,"abstract":"<p><p>Thrombotic thrombocytopenic purpura (TTP) is a rare but fatal disease requiring urgent diagnosis. The PLASMIC scoring model has been reported to be a valuable model for identifying TTP. This study aimed to investigate the diagnostic accuracy of this model and the diagnostic utility of lactate dehydrogenase (LDH)-to-serum creatinine (sCr) ratio in identifying TTP in Chinese patients. The records of 61 patients with suspected TTP tested for ADAMTS13 activity in our hospital between June 2016 and April 2024 were retrospectively analyzed. Receiver operating characteristic (ROC) analysis was performed to evaluate the diagnostic accuracy of LDH, sCr, and the LDH-to-sCr (LDH/sCr) in predicting TTP. Multivariate logistic regression analysis was used to screen for independent risk factors of TTP, and a combined predictive algorithm was established. The AUC for the PLASMIC scoring model distinguishing TTP from non-TTP was 0.850 (optimal cutoff: 5), with 92.8% sensitivity, 76.5% specificity, 75.8% positive predictive value (PPV), and 92.9% negative predictive value (NPV). The AUC derived from the LDH/sCr ratio was higher than that derived from LDH or sCr (P < 0.05). A combined predictive algorithm, termed the LCRP algorithm (including the LDH/sCr ratio, reticulocyte percentage, and platelet count), was developed for TTP. The AUC (0.955) derived from the LCRP algorithm, with 96.3% sensitivity, 88.2% specificity, 86.7% PPV, and 96.8% NPV, was higher than that of the PLASMIC scoring model (P < 0.05). The LDH/sCr ratio is more effective than isolated LDH or sCr measurements for predicting TTP. The LCRP algorithm involving the LDH/sCr ratio showed superior predictive performance and may hold significant potential for early identification of Chinese patients with TTP.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3165-3172"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful treatment of multi-hit TP53-mutated myelodysplastic syndromes with erythroid predominance using allogeneic stem cell transplantation and ruxolitinib.","authors":"Seigi Oshima, Junya Kanda, June Takeda, Takashi Sakamoto, Chisaki Mizumoto, Kouhei Yamashita, Yasuhito Nannya, Seishi Ogawa, Akifumi Takaori-Kondo","doi":"10.1007/s00277-025-06383-1","DOIUrl":"10.1007/s00277-025-06383-1","url":null,"abstract":"<p><p>TP53-mutated myelodysplastic syndrome (MDS) and acute erythroid leukemia (AEL) with complex karyotype have a very poor prognosis. The upregulation of the JAK-STAT pathway has been implicated in their pathogenesis, and inhibition of this pathway has shown promising disease control in preclinical models. Here, we report a case of refractory multi-hit TP53-mutated MDS with erythroid predominance on the verge of transitioning to AEL, which achieved hematological complete remission following allogeneic stem cell transplantation and ruxolitinib initiation. The patient exhibited chemoresistance to multiple regimens, including cytarabine with daunorubicin, high-dose cytarabine, and venetoclax with azacitidine. Despite the presence of residual disease post-transplant, complete remission was achieved two months after ruxolitinib initiation and tacrolimus tapering. At the 8-month follow-up, remission persists without evidence of relapse. This case highlights the potential of combining graft-versus-leukemia effects with ruxolitinib as a therapeutic strategy for TP53-mutated MDS/AEL. Further studies are warranted to evaluate the efficacy and safety of this strategy in a broader clinical setting.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3517-3522"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refinement of intermediate-risk Karyotypes according to the IPSS-R in patients with myelodysplastic neoplasms (MDS).","authors":"K Nachtkamp, F Schulz, A Kasprzak, C Strupp, B Hildebrandt, M Pfeilstöcker, P Valent, B Blum, A Giagounidis, K Götze, V Flatten, S Dietrich, G Kobbe, D Haase, N Gattermann, U Germing","doi":"10.1007/s00277-025-06443-6","DOIUrl":"10.1007/s00277-025-06443-6","url":null,"abstract":"<p><p>MDS patients show a heterogenous prognosis which can be stratified by the IPSS-R in order to derive therapeutic implications. Based on 618 patients with myelodysplastic neoplasms belonging to the cytogenetic intermediate-risk group according to IPSS-R, we show that this group is heterogeneous in terms of overall survival and cumulative risk of AML. The group can be reorganized into subgroups according to their prognostic impact. A small subgroup of patients with isolated -X or der(1;7) can be regarded as very-low-risk patients with a median survival time of 112 months and a cumulative AML progression rate of 9% after 2 years. A larger group of patients with either diverse aberrations of one chromosome or -Y + one additional aberration shows a benign course of the disease with a median survival time of 46 months and a cumulative AML progression rate of 26% after 2 years. A very large group of patients presenting with either + 8, +19, i(17q), + 21, +mar, del(9q), + 8 plus one other aberration, or del(7q) have a poor prognosis with a median survival time of 26 months and a cumulative AML progression rate of 32% after 2 years. In a very small set of patients with trisomy 11 the course of disease was similar to very-high-risk patients with a median survival time of 17 months only and a cumulative AML progression rate of 100% after 2 years. These findings could lead to a refinement of prognostic scoring systems such as the IPSS-R and the IPSS-M.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3251-3259"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of ETV6 mutations on clinical outcomes in acute myeloid leukemia: a real-world retrospective cohort study.","authors":"Xueqian Li, Hong Wang, Haohao Han, Jiaqian Qi, Yifang Yao, Xiaoyan Xu, Tingting Pan, Depei Wu, Yue Han","doi":"10.1007/s00277-025-06451-6","DOIUrl":"10.1007/s00277-025-06451-6","url":null,"abstract":"<p><p>As a member of the ETS family, ETV6 has been demonstrated to be implicated with the molecular etiology of various hematopoietic diseases. However, the clinical impact of ETV6 mutations (ETV6^mut) in acute myeloid leukemia (AML) remains unclear. Hereon, we included 879 consecutive newly diagnosed AML patients in our institution to elucidate the prognostic impact of ETV6 mutation status. In the overall cohort, ETV6^mut were found in 24 cases (2.7%) and were associated with lower hemoglobin levels. The predominant common mutation types were missense mutations (15/31, 48.4%) and frameshift mutations (14/31, 45.2%). ETV6 mutations often occurred in conjunction with U2AF1 and ASXL1 mutations. Moreover, ETV6^mut was associated with a lower complete remission (CR) rate (45.8% vs. 69.1%, P = 0.015) and shorter OS (P = 0.048) compared to the ETV6 wild-type (ETV6^wt) group. Notably, the achievement of CR did not contribute to survival benefit in AML with ETV6^mut. In multivariate analysis, ETV6 mutation was shown to be an independent adverse factor for OS in AML patients (HR: 1.72, 95% CI: 1.03-2.89; P = 0.040). Taken together, our study shows a mutational profile of ETV6 in AML and suggests that ETV6 mutations are associated with poor prognosis in AML patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":"3271-3279"},"PeriodicalIF":3.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12283831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}