Hematology Reports最新文献

Background/Objectives: Rasburicase is licensed for the management of tumor lysis syndrome (TLS) at a daily dose of 0.2 mg/kg intravenously for five days. The use of a single-dose treatment is popular in adult oncology but information in pediatric use is limited. Methods: From a literature search, all case reports and series, and comparative studies in which pediatric oncology patients received a single dose of rasburicase were selected for further analysis. Treatment success was determined by normalization of serum uric acid in the absence of serious complications. Results: Twelve articles with a total of 243 children were included. A fixed-dose regimen was used in 195, while 153 received weight-based dosing. With fixed dosing, successful treatment was seen in 91.8% and 82.9% at rasburicase doses ≥3 mg and 1.5 mg, respectively (p = 0.23). However, there were four mortalities in the lower-dose group. For weight-based dosing, success was observed in 89.2% and 66.7% at doses ≥0.15 mg/kg and <0.15 mg/kg, respectively (p = 0.0029). One child required dialysis in the lower-dose group. Conclusions: Single dose of rasburicase for the prophylaxis and treatment of TLS in pediatric oncology is an appealing approach with potentially less financial impact and drug toxicity. A fixed dose of at least 3 mg or 0.15 mg/kg by body weight is recommended.

Background/Objectives: Acute leukemias in adolescents and young adults (AYAs) with Down Syndrome (DS) are understudied. Methods: This was a single-center, retrospective cohort study. Medical records for pediatric DS (n = 41) and AYA-DS (n = 7) treated with a pediatric chemotherapy regimen for acute leukemia were evaluated. Results: Two-year event-free survival (EFS) in AYA DS acute leukemia patients was lower than that in their pediatric DS counterparts (28.6% (Confidence Interval (CI) 4.1, 61.2) vs. 84.9% (CI 69.5, 92.9); p = 0.002). Conclusions: Additional research is needed to improve outcomes in AYA DS leukemia.

Background: Ibrutinib, a Bruton's tyrosine kinase inhibitor (BTKi), has revolutionized the treatment of Chronic Lymphocytic Leukemia (CLL), yet hepatotoxicity remains a rare and poorly characterized adverse event. Case Presentation: We report the case of a 54-year-old man with progressive CLL and radiologically confirmed hepatic involvement who developed acute hepatocellular injury during ibrutinib monotherapy. Baseline liver tests showed mild abnormalities attributed to hepatic steatosis and leukemic infiltration. After approximately 10-12 weeks of ibrutinib (420 mg/day), transaminases markedly increased (ALT 660 U/L, AST 326 U/L), while bilirubin and synthetic function remained normal. Viral, autoimmune, and obstructive causes were excluded. Stepwise dose reductions to 140 mg/day provided limited benefit. The addition of prednisone (50 mg/day) led to rapid biochemical improvement. Ibrutinib was successfully re-escalated to 280 mg/day alongside venetoclax initiation, maintaining disease control without recurrence of liver injury. Discussion: The temporal relationship, exclusion of alternative causes, and corticosteroid responsiveness suggest an ibrutinib-induced liver injury, possibly exacerbated by pre-existing hepatic steatosis and leukemic infiltration. Conclusions: This case underscores the multifactorial pathogenesis of BTKi-related hepatotoxicity and highlights the potential role of corticosteroids in management. Prompt recognition, stepwise dose adjustment, and corticosteroid therapy may enable continued treatment and sustained disease control in selected patients.

Background: Evans syndrome is a rare autoimmune disease characterized by immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia, typically triggered by an episode of immune dysregulation or multiple other factors. We present what appears to be the first reported case of Evans syndrome developing in a 66-year-old female following respiratory syncytial virus (RSV) vaccination. Case Presentation: A 66-year-old female presented with a petechial rash on her arms, legs, and face. Laboratory tests revealed a platelet count of 1 × 10⁹/L, significantly lower than her historical baseline of >200 × 10⁹/L. On hospital day 4, her hemoglobin declined from 14.3 g/dL to 9.9 g/dL, with laboratory evidence of hemolysis, including elevated bilirubin, low haptoglobin, and increased lactate dehydrogenase (LDH). Bone marrow biopsy revealed megakaryocytic hyperplasia consistent with ITP, along with a small polyclonal B-cell population lacking CD20 expression. Imaging was unremarkable, showing no interval changes aside from stable pre-existing pulmonary nodules and no lymphadenopathy. These findings supported a diagnosis of Evans syndrome. Initial therapy with dexamethasone and intravenous immunoglobulin (IVIG) for presumed ITP was ineffective. Due to refractory thrombocytopenia, the patient initially received one dose of rituximab, followed by one dose of romiplostim. Subsequently, the patient received rituximab infusions every week at a rate of 375 mg/m² for four doses, as well as prednisone at a dose of 1 mg/kg/day. Within five weeks, her blood count returned to normal. Conclusions: This case raises concern for a potential temporal association between RSV vaccination and the onset of Evans syndrome. It underscores the need for heightened clinical awareness and further investigation into immune-mediated hematologic complications following RSV immunization.

The only cytogenetic alteration defining a subtype of a myelodysplastic syndrome is represented by the deletion of the long arm of chromosome 5 (del(5q)), now classified as MDS with isolated del(5q). This subtype is associated with a peculiar phenotype mainly dependent on the haploinsufficiency of several genes located on the deleted arm of chromosome 5. These patients show a good prognosis and respond to treatment with lenalidomide, but some cases progress to acute myeloid leukemia. Molecular studies have, in part, elucidated the heterogeneity of MDS with isolated del(5q), mainly related to the association with different co-mutations that may affect leukemic transformation and survival. In other MDS patients, del(5q) is combined with other chromosomal abnormalities, giving rise to a condition of complex karyotype, associated with frequent TP53 mutations and with a poor prognosis. Two different molecular pathways seem to be responsible for the generation of MDS with isolated del(5q) or of MDS with del(5q) associated with a complex karyotype.

Background/Objectives: Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia characterized by the t(15;17)(q24;q21) translocation, generating the PML::RARA fusion gene that blocks myeloid differentiation and drives leukemogenesis. Despite advances in therapy, early mortality remains a major challenge due to severe coagulopathy. This review aims to summarize recent insights into APL pathophysiology, diagnostic approaches, and management strategies. Methods: We performed a comprehensive review of the literature addressing the molecular mechanisms of APL, its associated coagulopathy, and current diagnostic and therapeutic standards, with a focus on evidence-based recommendations for clinical practice. Results: The hallmark PML: RARA oncoprotein disrupts nuclear body function and retinoic acid signaling, resulting in differentiation arrest and apoptosis resistance. APL-associated coagulopathy arises from overexpression of tissue factor, release of cancer procoagulant, inflammatory cytokines, and annexin II-mediated hyperfibrinolysis. Diagnosis requires integration of cytomorphology, immunophenotyping, coagulation studies, and molecular confirmation. Immediate initiation of all-trans-retinoic acid (ATRA) upon clinical suspicion, combined with aggressive supportive care, is critical to control bleeding risk. Conclusions: APL is now a highly curable leukemia when recognized early and treated with targeted therapy. Rapid diagnosis, prompt ATRA administration, and meticulous hemostatic support are essential to reduce early mortality. Further refinements in minimal residual disease monitoring are expected to improve patient outcomes.

Background/Objectives: Hodgkin lymphoma (HL) represents a rare but clinically significant complication in patients with Common Variable Immunodeficiency (CVID). Immune dysregulation, impaired viral control, and Epstein-Barr virus (EBV) infection may contribute to pathogenesis and adversely affect treatment tolerance. This case-based review aims to highlight the impact of early CVID recognition and multidisciplinary management on outcomes in CVID-associated HL. Methods: A retrospective screening of 224 patients with HL treated at our institution between 2010 and 2023 identified two individuals with CVID and EBV-positive HL. These cases are presented in detail and contextualized within a structured review of the published literature. Results: The first patient, diagnosed with CVID prior to HL onset, received immunoglobulin replacement and a modified chemotherapy regimen substituting bleomycin with brentuximab vedotin, resulting in sustained complete remission. The second patient, in whom CVID was recognized only after HL relapse, experienced recurrent infections, intolerance to therapy, and fatal disease progression despite treatment with brentuximab vedotin, checkpoint inhibition, and rituximab. The literature review revealed only eight comparable cases, underscoring the rarity and complexity of this association. Conclusions: Early identification of CVID facilitates infection control and enhances tolerance to HL therapy, thereby improving clinical outcomes. Multidisciplinary, individualized management and incorporation of targeted agents are pivotal in optimizing care for this vulnerable population.

Background and Clinical Significance: Mastocytosis and mast cell activation syndrome (MCAS) include conditions in which patients manifest signs, symptoms, and laboratory findings consistent with mast cell activation and can only be diagnosed in the presence of specific criteria. Mutations of ZRSR2, a gene involved in RNA splicing, are not closely associated with mast cell disorders, but rather with myelodysplastic syndromes development. Case Presentation: We report a case of a 37-year-old man who was referred to our institution for anaphylaxis after a bee sting and elevated serum tryptase levels (17.8 ng/mL in the first sample and 19.2 ng/mL in the second sample). Complete blood count was unremarkable. Bone marrow biopsy showed signs of dysplasia and some CD25+ mast cells. ASO-qPCR and targeted myeloid NGS analysis did not detect the KIT p.D816V mutation, but rather showed the presence of a pathogenetic variant of the ZRSR2 gene (p.S447_R448del) with a variant allele frequency of 7.4%. Mastocytosis could not be diagnosed based on the established diagnostic criteria. The patient's symptoms were not recurrent and tryptase release was not event-related; therefore, a diagnosis of MCAS could not be made either. Taken together, these findings led to the diagnosis of clonal hematopoiesis of indeterminate potential (CHIP). A watch and wait strategy consisting of clinical evaluations, blood tests, and cardiovascular risk assessment was initiated. Conclusions: This case report highlights the importance of combining clinical and laboratory findings, hematopathology, and molecular analyses to establish the most probable diagnosis in challenging cases. It also underscores the possible relevance of identifying predisposing conditions, such as CHIP, in order to guide counseling and follow-up strategy.

Objective: To describe the epidemiology, survival rate, and prognostic factors of mucosal-associated lymphoid tissue (MALT) lymphoma. Patients and Methods: This investigation utilized the Thai Lymphoma Study Group (TLSG) registry to gather data on patients diagnosed with MALT lymphoma. The analysis included demographic details, therapeutic interventions, and survival statistics. Results: The TLSG registry prospectively included 8404 patients with lymphoma. Among them, marginal-zone lymphoma (MZL) was the second most common subtype, with 670 histologically confirmed cases, accounting for 8.0% of the total cohort. An analysis of the MZL subtypes showed that MALT lymphoma was the most common, accounting for 77.8% of the diagnoses. This was followed by nodal MZL at 17.5% and splenic MZL at 7.7%. The distribution of primary disease sites indicated that the ocular adnexa (49.2%), stomach (12.9%), and sinonasal region (12.5%) were the three most common locations. Three variables were found to be statistically significant predictors of survival in the multivariate analysis: ECOG performance status > 2, age exceeding 65 years, and involvement of more than two extranodal organs. These identified prognostic factors were further assessed for their effect on overall survival (OS) and progression-free survival (PFS). A risk classification was established: the low-risk group comprised patients with zero identified risk factors, whereas the high-risk group included patients who had any of the specified risk factors. A comparison of five-year survival rates showed significantly more favorable outcomes for low-risk patients who had a PFS of 83.3% (vs. 66.1%, p = 0.028) and an OS of 97.8% (vs. 76.7%, p < 0.001) compared to the high-risk group. Conclusions: In this cohort, where MZL was the second most common lymphoma and MALT lymphoma was the predominant subtype, our analysis revealed that patients with no risk factors experienced statistically significant improvements in both PFS and OS.

Background: This study evaluated possible variations in classic blood coagulation parameters according to groups formed from the main erythrocyte antigen systems. Methods: Consecutive patients admitted to a transfusion hemotherapy service at a private hospital in the Brazilian Federal District were evaluated for coagulation profile and blood type according to routine laboratory practices. The international normalized ratio (INR), the activated partial thromboplastin time (APTT) and the prothrombin time (PT) were compared according to the ABO blood group and the Rh factor in analyses controlled for classic influencers such as age, sex and comorbidities. Results: No significant differences in coagulation were found between groups defined by the ABO antigen system, despite a body of evidence in favor of this correlation. Rh-positive individuals showed increased mean values in PT (13.7 vs. 12.6 s), in APTT (32.0 vs. 30.1 s) and in INR (1.23 vs. 1.15 s) when compared to the Rh-negative counterparts. Conclusions: Our results suggest a lowered rate of coagulation among Rh-positive individuals, possibly owing to inhibitory effects of the Rh(D) erythrocyte antigen on the coagulation pathway.