Hematology最新文献

Objectives: Acute undifferentiated leukemia (AUL) is a clinical rare leukemia with an overall poor prognosis. Currently, there are no well-established treatment guidelines for AUL, further exploration of optimal treatment options is now required.

Methods: We report an AUL patient who was complicated by a NRAS mutation and del5q was admitted to our hospital and we present the clinical features. In addition, we conducted a literature review.

Results: The "VA" scheme combines agents Venetoclax and Azacitidine that have synergistic therapeutic effect with a tolerable safety profile. There is no previous report of the "VA" scheme employed in AUL treatment. An AUL patient who was complicated by a NRAS mutation and del5q was admitted to our hospital. The "VA" scheme was administrated, and complete remission (CR) was achieved at the end of the first cycle. The patient then underwent HLA-identical sibling allogeneic hematopoietic stem cell transplantation.

Discussion: The "VA" scheme has been extensively used in AML treatment, but its application in AUL treatment has not yet been reported. This study is the first to report an AUL patient treated with the "VA" scheme and achieved CR. Our result preliminarily suggested the effectiveness and safety of the "VA" scheme in AUL treatment, but validation is required in more clinical samples. The "VA" scheme provides a new treatment option for AUL patients and deserves further clinical promotion.

Real-world studies of pyruvate kinase (PK) deficiency and estimates of mortality are lacking. This retrospective observational study aimed to identify patients with PK deficiency and compare their overall survival (OS) to that of a matched cohort without PK deficiency. Patients with ≥1 diagnosis code related to PK deficiency were selected from the US Veterans Health Administration (VHA) database (01/1995-07/2019); patients with a physician-documented diagnosis were included (PK deficiency cohort; index: date of first diagnosis code related to PK deficiency). Patients in the PK deficiency cohort were matched 1:5 to patients from the general VHA population (non-PK deficiency cohort; index: random visit date during match's index year). OS from index was compared between the two cohorts. Eighteen patients in the PK deficiency cohort were matched to 90 individuals in the non-PK deficiency cohort (both cohorts: mean age 57 years, 94% males; median follow-up 6.0 and 8.0 years, respectively). At follow-up, patients in the non-PK deficiency cohort had significantly longer OS than the PK deficiency cohort (median OS: 17.1 vs. 10.9 years; hazard ratio: 2.3; p = 0.0306). During their first-year post-index, 75% and 40% of the PK deficiency cohort had laboratory-confirmed anemia and iron overload, respectively. Among patients who died, cause of death was highly heterogeneous. These results highlight the increased risk of mortality and substantial clinical burden among patients with PK deficiency. While the intrinsic characteristics of the VHA database may limit the generalizability of the results, this is the first real-world study to characterize mortality in patients with PK deficiency.

Background: The application of traditional Chinese medicine (TCM) therapy to acute leukemia has been intensively investigated. However, the bibliometric analysis in this field has not been performed. This bibliometric study aimed to comprehensively analyze the research trends and active areas of TCM therapy for acute leukemia from 2000 to 2023.

Methods: We searched articles and reviews published between 2000 and 2023 that discussed TCM in acute leukemia from the Web of Science Core Collection (WoSCC). Knowledge mapping and bibliometric analysis were conducted using VOSviewer, CiteSpace software, and R-bibliometrix.

Results: A total of 1,099 articles were included, with China, the United States, and Korea contributing the most papers. Most papers were published in the Journal of Ethnopharmacology. Meanwhile, China saw a steady increase in the number of publications. The three leading institutions that made outstanding contributions were the China Medical University, the Chinese Academy of Sciences, and the China Academy of Chinese Medical Sciences. Efferth Thomas, Liu Wei, and Liu Jie were the top three productive authors, with Efferth T receiving the most co-citations. The most frequently cited reference was Shen ZX (1997). In the analysis of keywords co-occurrence, 'survival,' 'risk factors,' 'nanoparticles,' and 'metabolism' are the active research topics.

Conclusion: This bibliometric study provides researchers with a comprehensive overview and significant value in understanding the development of TCM in acute leukemia treatment.

Objectives: To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China.

Methods: The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.

Results: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA₂ ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB:c.316-146T > G, the other one was heterozygous mutation of HBB:c.316-146T > G combined with -^SEA deletion.

Conclusion: The hematological phenotype of HBB:c.316-146T > G mutation carriers is similar to that of common β⁺ heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.

Background: Hairy cell leukemia (HCL) is rare leukemia of mature B cells, accounting for 2% of all lymphoid neoplasms. Although the association of venous thromboembolism (VTE) with cancer is well established, there is no systematic study describing VTE in HCL.

Aim: To analyze prevalence and risk factors associated with VTE in HCL patients.

Methods: We retrospectively reviewed data from the medical records of 56 consecutive HCL patients evaluated in our Hematology/Oncology clinic between 1998 and 2023.

Results: The median age at diagnosis was 59 years (range, 37-94), and 49 patients (87%) were male. With a median follow-up of 122 months (1-291), we identified 11 episodes of VTE in 8 (14%) HCL patients: pulmonary embolism (PE) (5 cases) with or without concurrent deep venous thrombosis (DVT), and DVT alone (6 cases). All thrombotic episodes occurred after the diagnosis of HCL, or at the same time of it, as presenting clinical manifestation of the HCL. Risk factors for VTE other than cancer were identified in only 3 patients.

Conclusion: Our study found a high incidence of VTE in patients with HCL, mostly in the absence of other provoking factors, suggesting that this hematologic malignancy is associated with an underlying thrombophilic state.

Objectives: To assess the safety and effectiveness of turoctocog alfa in previously treated patients (PTPs) and previously untreated patients (PUPs) with haemophilia A in a real-world setting in Japan.

Methods: This multicentre, non-interventional, post-marketing study recruited patients with haemophilia A who initiated treatment with turoctocog alfa from 18 sites (08/2014-12/2018). The primary endpoint was adverse events (AEs) during the 2-year study period.

Results: The safety and effectiveness analysis set included 39 patients. In total, 13 (33.3%) patients reported ≥1 AE; incidence rate was 60.4 events/100 patient-years of exposure (PYE). Treatment was withdrawn in two cases: pruritus in a PTP and factor VIII inhibitor development in a PUP. Inhibitor development occurred in 2.6% of all patients, with an incidence rate of 3.8 events/100 PYE. The rate of inhibitor development was 0%, 25% and 20% in PTPs, PUPs and PUPs with severe type, respectively. The haemostatic success rate was 91.4% for 383 bleeding episodes and 85.7% for 14 surgeries. The negative binomial annualised bleeding rate for the prophylaxis regimen was 6.19 episodes/year (95% CI, 3.69-10.38). The mean (SD) total consumption of turoctocog alfa (n = 34; excluding FVIII inhibitors) was 5,382.6 (7,180.1) IU/kg/year/patient; consumption was 4,133.1 (1,452.4) IU/kg/year/patient for prophylaxis.

Discussion: The effectiveness and safety profiles were comparable to those observed in other turoctocog alfa trials; effectiveness analysis and consumption were not affected by treatment regimens.

Conclusion: Long-term use of turoctocog alfa therapy in clinical practice posed no newly identified safety issues and was effective for prophylaxis and treatment of bleeds in patients with haemophilia A in Japan.

Background: Mycosis fungoides (MF) and Sezary Syndrome (SS) comprise over half of all Cutaneous T-cell lymphoma diagnoses. Current risk stratification is largely based on TNMB staging, few research investigated the prognostic value of clinical exams. Current systemic therapy for advanced disease includes immunomodulatory drugs, chemotherapy, and HADC inhibitors. Few clinical trials or retrospective research compared the efficacy of different drugs.Method: Here, we performed a retrospective analysis of prognostic factors and treatment outcomes of 92 patients diagnosed with MF/SS at the Peking Union Medical College Hospital from 2013-2023.Results: Cox regression analysis identified that age ≥ 50 years, WBC ≥ 8 × 10⁹/L, serum LDH ≥ 250U/L, β2-MG ≥ 4.50 mg/L, and stage IV were associated with reduced overall survival, age ≥ 50 years, serum LDH ≥ 250U/L and stage IV were associated with reduced progression free survival. Kaplan-Meier analysis established that immunomodulatory therapy was associated with longer progression free survival.Conclusion: These results suggested new factors in predicting prognosis and selecting appropriate treatments in patients with advanced MF/SS.

Introduction: Anaemia occurs due to an imbalance between erythrocyte production and loss. This imbalance can be due to ineffective erythropoiesis, blood loss or haemolysis. Whilst there are many causes for anaemia, iron deficiency anaemia (IDA) remains the predominant cause worldwide.

Areas covered: There have been many updated guidelines on the management of IDA in the past few years. As the reasons for IDA are many, evaluation requires thorough analysis and focused investigations. As an asymptomatic disease in the early stages, IDA can lead to many mistakes in its management. This review highlights potential mistakes in assessing and managing IDA and recommendations to avoid them.

Conclusion: The effective management of IDA necessitates a comprehensive and multidisciplinary approach. By recognising and addressing the common mistakes highlighted in this narrative review, healthcare professionals can improve patient outcomes, minimise complications, and enhance the overall quality of care.

Background: Branched-chain amino acids (BCAAs), including leucine, isoleucine, and valine, are essential amino acids involved in protein synthesis, energy metabolism, and immune regulation. While BCAAs are known to influence cancer biology, their role in leukemia remains unclear. This study employs Mendelian randomization (MR) analysis to explore the causal relationship between BCAA levels and four leukemia subtypes: acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), and chronic myeloid leukemia (CML).

Methods: Data from genome-wide association studies (GWAS) were used to select single nucleotide polymorphisms (SNPs) as instrumental variables (IVs) for BCAA levels. The inverse-variance weighted (IVW) method served as the primary analytical approach, with heterogeneity assessed via Cochran's Q test and pleiotropy through MR-Egger intercept. Sensitivity analysis was performed using leave-one-out analysis.

Results: A significant inverse association was observed between total BCAA levels, leucine, valine, and ALL risk. Total BCAA levels showed an odds ratio (OR) of 0.16 (95% CI: 0.05-0.54, p=0.003), leucine 0.17 (95% CI: 0.04-0.61, p=0.007), and valine 0.21 (95% CI: 0.07-0.61, p=0.004). No significant associations were found for AML, CLL, or CML.

Conclusion: This study suggests that BCAAs, particularly leucine and valine, may protect against ALL, offering insights into leukemia metabolic regulation and potential targets for prevention and therapy.

Objectives: Hemorrhagic events are a rare but potentially fatal complication in patients with polycythemia vera (PV).

Methods: We analyzed the characteristics of hemorrhagic events in 267 patients with PV.

Results: A median follow-up of 4.8 years revealed that 23 (8.6%) hemorrhagic events occurred. Significantly more hemorrhagic events occurred in younger patients aged below 60 years (n = 72) than in older patients aged 60 years or above (n = 191) (n = 12 [16.7%] vs. n = 11 [5.8%], respectively, P = 0.012). In univariate analysis among the younger patients, white blood cell (WBC) count ≥ 15 × 10⁹/L (hazard ratio [HR] = 7.746, 95% confidence interval [CI] 2.082-28.830, P = 0.002), palpable splenomegaly (HR = 5.629, 95% CI 1.193-26.550, P = 0.029), and JAK2V617F allele burden ≥ 80% (HR = 22.850, 95% CI 2.885-181.00, P = 0.003) were associated with an increased risk of hemorrhagic events. In multivariate analysis, JAK2V617F allele burden ≥ 80% (HR = 9.394, 95% CI 1.046-84.380, P = 0.046) was a significant risk factor.

Conclusions: There is an increased risk of hemorrhagic events after diagnosis in younger PV patients with a high JAK2V617F allele burden, high WBC count or palpable splenomegaly. It is important to consider treatment options that aim to avoid hemorrhagic events by reducing the JAK2V617F allele burden in younger PV patients.