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 (n = 53). After ASCT, responses were evaluated based on the International Myeloma Working Group criteria and NGF-MRD. MRD was positive in 60% of patients with a median progression-free survival (PFS) of 31 months vs. not reached (NR) for MRD-negative cases (p = 0.05). The patients who received M-Len continuously had a significantly better PFS and overall survival (OS) than those without M-Len (median PFS: NR vs. 29 months, p = 0.007), with progression in 11% vs. 54% of cases after a median follow-up of 34 months, respectively. In a multivariate analysis, MRD status and M-Len therapy emerged as independent predictors of PFS (median PFS of M-Len/MRD- vs. no M-Len/MRD+ of NR vs. 35 months, respectively; p = 0.01). In summary, M-Len was associated with improved survival outcomes in our real-world MM cohort in Brazil, with MRD emerging as a useful reproducible tool to identify patients at an earlier risk of relapse. The inequity in drug access remains a hurdle in countries with financial constraints, with a negative impact on MM survival.

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 ß-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 HbA2, serum ferritin and mean corpuscular volume standardized by age. The model was trained in 134 patients and validated in 160 randomly selected patients from the total sample. We used Youden's index applied to the ROC curve methodology to establish the optimal odds ratio (OR) cut-off for the presence of two or more α-globin gene deletions. Using the OR cut-off of 0.4, the model's negative predictive value (NPV) was 96.8%; the cut-off point accuracy was 85.4%; and the molecular analysis pre-test probability increased from 25.9% to 65.4% after the use of the proposed model. This tool aims to assist the physician in deciding when to perform molecular studies for the diagnosis of α-thalassemia. The model is useful in places with few financial health resources.

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. Immunophenotypic shifts occurred in key markers as CD30, CD7, CD2, and CD5, however neoplastic cells were clearly discriminated from normal populations. CONCLUSION: MFC can be a useful tool for ALCL diagnosis and MRD monitoring and may support therapeutic decisions.

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. RESULTS: Overall, in 23% of patients, -α3.7 deletion was found. α-Thalassaemia concomitant to SCD was an independent protective factor to cholecystitis (OR = 0.07; 95% CI: 0.01-0.66; p = 0.020) and cholecystectomy requirement (OR = 0.14; 95% CI: 0.03-0.60; p = 0.008). The risk of cholelithiasis was not affected by the α-thalassaemia concomitance. CONCLUSIONS: To the best our knowledge, our study is the first to show the protective effect of α-thalassaemia on cholecystitis and cholecystectomy requirements in SCD, which may be due to an improved splenic function.