Prevalence of gene mutation and its expression in Brazilian pediatric B-ALL patients: clinical implications.

Introduction: There is consistent evidence that may be a driver gene in B-ALL and that selected cases may benefit from the use of FLT3 inhibitors. Our study was conducted to evaluate the frequency and types of FLT3 mutations in pediatric patients with B-ALL, the relative expression of this gene, and their influence on clinical evolution.

Methods: We evaluated 156 children with B-ALL treated between July 2018 and September 2023.

Lenalidomide Maintenance and Measurable Residual Disease in a Real-World Multiple Myeloma Transplanted Population Receiving Different Treatment Strategies Guided by Access to Novel Drugs in Brazil.

Despite recent advances in multiple myeloma (MM), the incorporation of novel agents and measurable residual disease (MRD) monitoring in low-income countries remains a challenge. Although lenalidomide maintenance (M-Len) after autologous stem cell transplantation (ASCT) has been associated with improved outcomes and MRD has refined the prognosis of complete response (CR) cases, until now, there have been no data on the benefits of these approaches in Latin America. Here, we evaluate the benefits of M-Len and MRD using next-generation flow cytometry (NGF-MRD) at Day + 100 post-ASCT ( = 53).

Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study.

After the exclusion of iron deficiency and β-thalassemia, molecular research for α-thalassemia is recommended to investigate microcytic anemia. Aiming to suggest more efficiently the molecular analysis for individuals with a greater chance of having a symptomatic form of the disease, we have developed and validated a new decision tool to predict the presence of two or more deletions of α-thalassemia, increasing considerably the pre-test probability. The model was created using the variables: the percentage of HbA, serum ferritin and mean corpuscular volume standardized by age.

Immunophenotypic shifts during minimal residual evaluation in a case of leukemic form of anaplastic large cell lymphoma ALK.

Background: This study aims to describe immunophenotypic explorations at diagnosis and follow up of a pediatric patient with leukemic phase of ALK+ anaplastic large cell lymphoma (ALCL) by multiparametric flow cytometry (MFC).

Case: An 8-color MFC combination of antibodies allowed to identify neoplastic cells in concentrations until 0.02% during minimal residual disease (MRD) monitoring.

Protector effect of α-thalassaemia on cholecystitis and cholecystectomy in sickle cell disease.

Objectives: Cholecystitis is one of the complications of symptomatic cholelithiasis responsible for high levels of morbidity of sickle cell disease (SCD) patients. Here, we investigated the possible protective role of single gene deletions of α-thalassaemia in the occurrence of cholelithiasis and cholecystitis in SCD patients, as well as the cholecystectomy requirements.

Methods: The α-globin genotype was determined in 83 SCD patients using the multiplex-polymerase chain reaction and compared with clinical events.