Hematology最新文献

{"title":"Blinatumomab added to conditioning regimen of allogeneic hematopoietic stem cell transplantation for adult MRD<i>-</i>positive acute lymphoblastic leukemia: a single-center case series.","authors":"Hui Fu, Yanmin Zhao, Huarui Fu, Meng Liu, Congxiao Zhang, Li Yang, He Huang, Jimin Shi, Jian Yu","doi":"10.1080/16078454.2024.2439605","DOIUrl":"10.1080/16078454.2024.2439605","url":null,"abstract":"<p><p>Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) remains the mainstay of treatment for adults with high-risk acute lymphoblastic leukemia (ALL). Due to the crucial role of measurable residual disease (MRD) before Allo-HSCT in predicting relapse and the promising anti-leukemia effect of blinatumomab, we documented a short-course, low-dose conditioning regimen incorporating blinatumomab for Allo-HSCT in three ALL patients with positive MRD. Following the administration of the blinatumomab-containing conditioning regimen, all patients attained complete remission (CR) with negative MRD status, and no severe adverse events were observed. After a 2-year follow-up, 2/3 of patients remained disease-free and attained long-term survival following transplantation. These cases indicated a short-term blinatumomab conditioning regimen may effectively prolong patient survival, improve prognosis, and offer a safe and cost-effective treatment for high-risk ALL patients with positive MRD. The addition of blinatumomab to the conditioning regimen of Allo-HSCT is feasible for high-risk ALL patients with positive MRD.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2439605"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malnutrition defined by Controlling Nutritional Status score was independently associated with prognosis of diffuse large B-cell lymphoma primarily on elderly patients.","authors":"Fei Wang, Luo Lu, Haoyu Zang, Yanhua Yue, Yang Cao, Min Chen, Yue Liu, Weiying Gu, Bai He","doi":"10.1080/16078454.2024.2434276","DOIUrl":"https://doi.org/10.1080/16078454.2024.2434276","url":null,"abstract":"<p><strong>Objectives: </strong>Controlling Nutritional Status (CONUT) Score is an effective tool for the assessment of malnutrition and proved to be associated with survival of Diffuse large B-cell lymphoma (DLBCL) patients. We investigated the impact of CONUT score on specific subgroups of DLBCL patients, including age and International prognostic Index (IPI) risk groups.</p><p><strong>Methods: </strong>Data of 287 newly diagnosed DLBCL in the Third Affiliated Hospital of Soochow University were retrospectively collected. Baseline CONUT score, clinical data and survival information were recorded.</p><p><strong>Results: </strong>With the standard cut-off value of 4 points, 88 (30.7%) patients were clarified as malnourished. During a median follow-up of 34 months, malnourished patients exhibited significant reduction in both progression-free survival (PFS) and overall survival (OS). The 3-year PFS rates for malnourished and well-nourished patients were 51.4% and 70.9% (<i>p</i> = 0.001), while the 3-year OS rates were 62.4% and 84.0% (<i>p</i> < 0.001). Malnutrition was demonstrated an independent predictor of OS in DLBCL patients (HR 2.220, 95% CI 1.307-3.772, <i>p</i> = 0.003). It could effectively identify patients with inferior OS in both low/intermediate-low risk and intermediate-high/high risk IPI groups. In the group of elderly patients aged over 60 years, malnutrition was independently associated with OS (HR 2.182, 95% CI 1.178-4.040, <i>p </i>= 0.024), but not PFS (HR 1.709, 95% CI 1.016-2.875, <i>p</i> = 0.070) after adjustment using the Benjamini-Hochberg procedure. Conversely, for younger patients, malnutrition did not demonstrate an independent impact on either PFS or OS.</p><p><strong>Conclusion: </strong>Malnutrition evaluated by CONUT score was an independent predictor for the outcome of DLBCL patients, which is exclusively caused by its effect on elderly patients.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2434276"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of physical cues on platelet storage lesion.","authors":"Lihan Cheng, Lu Wang, Shichun Wang, Qi Liu, Ronghua Diao, Chunyan Yao","doi":"10.1080/16078454.2025.2450573","DOIUrl":"https://doi.org/10.1080/16078454.2025.2450573","url":null,"abstract":"<p><strong>Background: </strong>Platelet concentrates play an important role in clinical treatment such as platelet function disorders and thrombocytopenia. In the process of preparation and storage of platelets, centrifugation, leukofiltration, and agitation will cause morphological changes and impaired function of platelets, which is associated with the increase of platelet transfusion refractoriness, and named as platelet storage lesion (PSL).</p><p><strong>Method: </strong>This paper proposes three major operations (centrifugation, agitation, and leukofiltration) that platelets experience during the preparation and storage process, to explore the effect of physical cues on PSL. The analysis of morphology, metabolism index, and levels of activation markers are used to monitor the quality of stored platelets and definite the role of physical cues in PSL.</p><p><strong>Result: </strong>In this study, centrifugation, leukofiltration and agitation lead to different degrees of platelet activation, with the extension of storage time. At one hour after separation, PSL can be found through structural change, metabolic parameters, and activation markers of platelets. Agitation maintains more cell numbers, better cell morphology, and lower metabolism rate in platelets, and keeps the low activation state of platelets throughout the storage period. The hard centrifugation group showed the highest level of CD62P expression throughout the storage.</p><p><strong>Conclusion: </strong>our results indicate that agitation can mitigate PSL by supplying sufficient O₂ during preservation, shear stress may cause PSL immediately after the physical cues were applied; however, hydrostatic pressure induced by filtration is negligible for its effects on PSL. Meanwhile, when the physical cues are big enough, the activation of platelets is irreversible, such as spin at 2000 <i>g</i>. The granule secretion of platelets is a kind of irreversible activation; however, the membrane reorganization of platelets is a kind of reversible activation.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2450573"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Platelet levels before and after iron replacement therapy in patients with iron deficiency anemia.","authors":"Giampaolo Talamo, Oluwagbemiga Oyeleye, Asmita Paudel, Hamnah Tayyab, Muneer Khan, Marcelle G Meseeha, Ghanshyam Bhatta","doi":"10.1080/16078454.2025.2458358","DOIUrl":"https://doi.org/10.1080/16078454.2025.2458358","url":null,"abstract":"<p><strong>Background: </strong>Iron deficiency anemia (IDA) is the most common cause of anemia worldwide. Patients with IDA often present thrombocytosis, but little is known about its degree and prevalence, and its response to iron replacement.</p><p><strong>Methods: </strong>We conducted a retrospective review of 76 consecutive patients with anemia secondary only to iron deficiency. Laboratory data were collected both at baseline and at 3 months after either oral or intravenous iron replacement therapy. We defined thrombocytosis as a platelet count >400 × 10⁹/L.</p><p><strong>Results: </strong>The median age of the patients was 54 years (range, 22-90 years), and 59 of 76 (78%) patients were females. The replacement therapy consisted of oral iron (<i>n</i> = 13), intravenous iron (<i>n</i> = 33), or both (<i>n</i> = 30). The median Hb and ferritin levels at baseline and at 3 months after the iron replacement were 9.9 g/dL and 18 mg/dL, and 12.4 g/dL (<i>p</i> < 0.0001) and 113 mg/dL (<i>p</i> < 0.0001), respectively. Thrombocytosis before and after the iron administration was present in 17 (22%) and 4 (5%) patients, respectively. Regardless of thrombocytosis, the platelet count decreased in 55 (72%) patients. The median platelet level at baseline and at 3 months after the iron replacement was 299 (95% CI, 276-330) and 265 (95% CI, 245-295) × 10⁹/L (<i>p</i> < 0.0001), respectively.</p><p><strong>Conclusion: </strong>Thrombocytosis is found in about one fifth of patients with IDA at baseline, and it is expected to resolve within 3 months of iron replacement therapy in most of them. Iron administration is associated with a decrease of the platelet counts, even in the absence of preexisting thrombocytosis.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2458358"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression and clinical significance of histamine receptors in pediatric AML.","authors":"Bi Zhou, WenPeng Wang, Pao Yu, Yang Yang, DaWei Mi, YuanYuan Tian, Ying Li, Feng Zhu","doi":"10.1080/16078454.2024.2449319","DOIUrl":"https://doi.org/10.1080/16078454.2024.2449319","url":null,"abstract":"<p><strong>Background: </strong>This study investigates the expression and clinical significance of the histamine receptor family (HRs) in the bone marrow of children with newly diagnosed acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>RNA sequencing was performed to assess the expression levels of HR family members (HRH1, HRH2, HRH3, and HRH4) in the bone marrow of 140 pediatric AML patients prior to chemotherapy. We compared the expression levels across various risk categories and assessed their relationship with prognosis using ROC curve analysis to evaluate predictive capabilities for outcomes.</p><p><strong>Results: </strong>Among the 140 AML patients in our center, those with different FAB subtypes showed varying overall survival (OS), event-free survival (EFS), and relapse-free survival (RFS). Specifically, the M2 and M4 subtypes showed better OS, EFS, and RFS, whereas the M5 subtype had poorer outcomes. Among patients with different fusion genes, those with AML1/ETO had superior OS, EFS, and RFS compared to other subtypes. Additionally, patients with CEBPA mutations demonstrated relatively favorable outcomes, whereas those with FLT3 mutations had poorer survival metrics. HRH1 expression was significantly higher in AML patients than in normal controls (<i>P</i> < 0.05). Patients in the high HRH1 expression group had significantly better EFS and RFS than those in the low expression group (<i>P </i>< 0.05). Furthermore, HRH1 expression was significantly higher in the low-risk (LR) group than in the intermediate and high-risk (IR & HR) groups (<i>P</i> < 0.05). This finding suggests that HRH1 may serve as an early predictor of risk, EFS, and RFS.</p><p><strong>Conclusion: </strong>The clinical significance of HR family members varies in pediatric AML, with HRH1 identified as a valuable predictor of relapse in children with AML.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2449319"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bortezomib, thalidomide, and dexamethasone versus bortezomib, lenalidomide, and dexamethasone in transplant-eligible newly diagnosed multiple myeloma: a systemic review and meta-analysis.","authors":"Yin-Che Wang, Cheng-Hsien Lin, Yu-Chen Su, Chieh-Lin Jerry Teng","doi":"10.1080/16078454.2025.2462249","DOIUrl":"https://doi.org/10.1080/16078454.2025.2462249","url":null,"abstract":"<p><strong>Background: </strong>The current study aimed to compare treatment responses, the incidence of the need for auto-HSCT, and the occurrence of specific adverse events (AEs) between VTD and velcade, VRD induction regimens in patients with transplant-eligible newly diagnosed multiple myeloma (NDMM).</p><p><strong>Methods: </strong>This systematic review and meta-analysis included 15 studies: six evaluating the VTD regimen and nine evaluating the VRD one. The primary endpoints were response rates after induction therapy and the incidence of a need for autologous hematopoietic stem cell transplantion (auto-HSCT) between the groups. We also examined the occurrence of grade 3 or 4 hematological, infection, and thrombotic AEs in both groups.</p><p><strong>Results: </strong>The VTD group showed an overall response rate (ORR) of 93%, while the VRD group had an ORR of 86%. The very good partial response (VGPR) rates were 61% in the VTD group and 60% in the VRD one. The auto-HSCT rate was higher in the VTD group, averaging 93% compared to 70% in the VRD one. The incidence of grade 3 or 4 hematological AEs was 31% for VTD and 33% for VRD. The rates of grade 3 or 4 infection-related AEs were 9% in the VTD group and 14% in the VRD one. The incidence of grade 3 or 4 thrombotic AEs was 4% for VTD and 3% for VRD.</p><p><strong>Conclusions: </strong>With comparable safety profiles, VTD and VRD induction therapies are similarly effective for transplant-eligible NDMM, showing similar ORRs and VGPR rates.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2462249"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the correlation between blood manganese concentrations and anemia in U.S. adults: a nationally representative study.","authors":"Wei Shui, Yuanyuan Niu, Changran Zhang, Qianying Pan","doi":"10.1080/16078454.2025.2460895","DOIUrl":"https://doi.org/10.1080/16078454.2025.2460895","url":null,"abstract":"<p><strong>Background: </strong>The health implications of trace elements have become increasingly concerning, yet the connection between blood manganese levels and anemia remains insufficiently examined. This research endeavors to explore the potential linkage between blood manganese concentrations and anemia.</p><p><strong>Methods: </strong>Utilizing data from the National Health and Nutrition Examination Survey (NHANES) from 2011 to 2018, this study examines the correlation between blood manganese levels and anemia among U.S. adults, offering a comprehensive national perspective. The study included 11,300 adults aged 20 and above, with both blood manganese and hemoglobin levels measured. Generalized Additive Model (GAM) was applied to delineate smooth curves, and threshold effect analysis was performed to identify the inflection points of these curves. Subsequently, unconditional logistic regression was employed to assess the risk.</p><p><strong>Results: </strong>Our research involved a total of 11,300 individuals, among which 1,143 (10.1%) were identified with anemia. The curve fitting analysis indicated a U-shaped relationship between blood manganese levels and the risk of anemia. Specifically, when blood manganese levels were below 8.69 µg/L, increasing concentrations were linked to a decreased risk of anemia, with an adjusted OR of 0.838 (95% CI: 0.735-0.954), indicating a protective effect of this level of blood manganese against anemia. Conversely, when blood manganese levels were at or above 8.69 µg/L, further elevations were strongly associated with an increased risk of anemia, with the adjusted OR rising to 1.160 (95% CI: 1.124-1.196), suggesting that excessively high blood manganese levels significantly raised the risk of developing anemia.</p><p><strong>Conclusion: </strong>This study provides novel insights into the association between blood manganese levels and anemia. Further extensive, population-based cohort studies are necessary to validate the causality and to uncover the intrinsic toxicological mechanisms.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2460895"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Second-line use of dasatinib and nilotinib in a real-world patient population with chronic phase chronic myeloid leukemia.","authors":"Tayfur Toptas, Derya Demirtas, Ahmet Mert Yanik, Ozlem Candan, Fatma Arikan, Secil Salim, Meral Menguc, Asu Fergun Yilmaz, Tulin Tuglular, Isik Kaygusuz Atagunduz","doi":"10.1080/16078454.2025.2478344","DOIUrl":"https://doi.org/10.1080/16078454.2025.2478344","url":null,"abstract":"<p><strong>Background: </strong>While there has been no direct head-to-head comparison, it is assumed that second-line treatment with dasatinib and nilotinib has comparable efficacy but distinct safety profiles in the treatment of patients with chronic phase chronic myeloid leukemia (CML-CP). Our aim was to conduct a real-world analysis to compare the efficacy and safety profiles of these two agents.</p><p><strong>Methods: </strong>Data from 73 CML-CP patients, who received either dasatinib or nilotinib in second-line treatment, were analyzed. The primary interest of the efficacy assessment was a major molecular response (MMR) at the 12-month, 5-year cumulative incidence of treatment failure, and overall survival.</p><p><strong>Results: </strong>A total of 73.5% of 34 patients in the dasatinib and 76.9% of 39 patients in the nilotinib group achieved MMR at 12 months. Five-year cumulative probability of treatment failure in patients, who previously achieved MMR was 0 and 7.6% for patients receiving dasatinib and nilotinib, respectively (<i>p</i> = 0.25). Eight-year OS was 82.7 and 86.3% for dasatinib and nilotinib groups, respectively (<i>p</i> = 0.90). Pleural effusions were more common in the dasatinib group, leading to treatment discontinuation, while cardiovascular events and thrombotic incidents were more prevalent in the nilotinib group.</p><p><strong>Conclusion: </strong>Dasatinib and nilotinib exhibit similar efficacy in the CML-CP treatment. Individualized patient management should consider patient comorbidities and safety profiles.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2478344"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of t(X;1)(q28;q21) generating a novel GATAD2B::MTCP1 gene fusion in CMML and its persistence during progression to AML.","authors":"Yi-Zi Liu, Feng-Hong Zhang, Chun-Xiao Hou, Zhi-Yu Zhang, Yi-Yan Zhu, Qian Wang, Yu Chen, Su-Ning Chen","doi":"10.1080/16078454.2024.2439110","DOIUrl":"10.1080/16078454.2024.2439110","url":null,"abstract":"<p><strong>Objective: </strong>Hematological malignancies often involve chromosomal translocations and fusion genes that drive disease progression. While <i>MTCP1</i> is well-known in T-cell prolymphocytic leukemia (T-PLL), its role in myeloid neoplasms is less understood. This report presents the first identification of the t(X;1)(q28;q21) translocation leading to the <i>GATAD2B::MTCP1</i> fusion in acute myeloid leukemia (AML) transformed from chronic myelomonocytic leukemia (CMML).</p><p><strong>Methods: </strong>The karyotypes were described according to the International System for Human Cytogenetic Nomenclature 2009. We performed targeted next-generation sequencing (NGS) on a panel of 172 genes commonly mutated in hematological malignancies (Supplemental Table 1), using an Illumina platform. RNA sequencing was conducted on total RNA extracted from bone marrow, also using the Illumina platform. The <i>GATAD2B::MTCP1</i> fusion gene was confirmed by reverse transcription-polymerase chain reaction (RT-PCR) and Sanger sequencing, with specific primers for the fusion transcript (<i>GATAD2B</i>-F: CCTCTTTTTTTCGACGCC; <i>MTCP1</i>-R: ACTGAGCACAACACTTACGC).</p><p><strong>Results: </strong>The <i>GATAD2B::MTCP1</i> fusion results from a breakpoint on 1q21 within <i>GATAD2B</i> exon 1 and Xq28 within <i>MTCP1</i> exon 2. The patient with the <i>GATAD2B::MTCP1</i> fusion exhibited disease progression from CMML to AML. Despite achieving initial remission with venetoclax-based therapy and allo-HSCT, the patient relapsed and died.</p><p><strong>Conclusions: </strong>We propose that the <i>GATAD2B::MTCP1</i> fusion upregulates <i>MTCP1</i> expression rather than generating a fusion protein, thereby contributing to transformation and relapse in AML. Further investigations are needed to elucidate the precise role of this fusion event in myeloid malignancies.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2439110"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and prognostic analysis of <i>CDKN2A/2B</i> gene in pediatric acute lymphoblastic leukemia: a retrospective case-control study.","authors":"Shi-Mei Huang, Hui-Qin Chen, Li-Ting Liu, Ya-Ting Zhang, Jian Wang, Dun-Hua Zhou, Jian-Pei Fang, Lu-Hong Xu","doi":"10.1080/16078454.2024.2439606","DOIUrl":"https://doi.org/10.1080/16078454.2024.2439606","url":null,"abstract":"<p><p>In this retrospective case-control study involving 424 pediatric patients diagnosed with Pediatric Acute Lymphoblastic Leukemia (ALL), the investigation focused on analyzing the clinical characteristics and prognosis associated with the Cyclin-dependent kinase inhibitor 2A/2B (<i>CDKN2A/2B</i>) gene. Treatment and evaluation followed the South China Children's Leukemia Group-ALL-2016 protocol (SCCLG-ALL-2016). Among the cohort, 92 patients (21.7%) exhibited <i>CDKN2A/2B</i> gene deletions, with 11.1% homozygous and 10.6% heterozygous deletions. Notably, ALL patients that do have <i>CDKN2A/2B</i> gene deletions tended to present at an older age (<i>P </i>= 0.001), demonstrate hepatosplenomegaly on palpation (<i>P </i>< 0.001), and exhibit a higher incidence of Central nervous system leukemia (CNSL) (<i>P </i>= 0.037) and T-ALL (<i>P </i>= 0.007). A significant correlation was observed between ALL that does have <i>CDKN2A/2B</i> gene deletions and <i>ETV6::RUNX1-positive</i> (8.7% vs. 19.3%, <i>P </i>= 0.017) and <i>IKZF1</i> gene deletions (20.7% vs. 8.4%, <i>P </i>= 0.001). Survival analysis of 392 patients revealed no significant differences in 5-year relapse, Overall survival (OS), or Event-free survival (EFS) between ALL that does/ does not have <i>CDKN2A/2B</i> gene deletions. Subgroup analysis highlighted poorer prognosis among hepatosplenomegaly patients in the <i>CDKN2A/2B</i> gene deletion group, with a 5-year EFS of 81.8%, 95%CI (0.695-0.963), <i>P </i>= 0.05. Hepatosplenomegaly emerged as the most significant prognostic factor for EFS [HR = 2.306, 95%CI (1.192-4.461), <i>P </i>= 0.013]. Cox regression analyses identified covariates influencing prognosis, ALL with the <i>CDKN2A/2B</i> gene showing no significant impact on outcomes. In conclusion, while ALL that does have <i>CDKN2A/2B</i> gene deletions is associated with certain clinical characteristics and genetic aberrations, they did not significantly impact OS or EFS. Furthermore, subgroup analysis revealed a potential prognostic role of ALL that does have <i>CDKN2A/2B</i> deletions presenting with hepatosplenomegaly on palpation, emphasizing the importance of comprehensive risk stratification in treatment decision-making for this subgroup.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2439606"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}