The St Jude Total Therapy Study XV was the first clinical trial to prospectively use minimal residual disease levels during and after remission induction therapy to guide risk-directed treatment. We used the Total Therapy XV protocol with minimal modification in treating 115 newly diagnosed pediatric acute lymphoblastic leukemia patients from low- and middle-income groups from January 2011 to December 2017. The mean age at diagnosis was 5.97 ± 3.96 years. The median follow-up period was 88 months. Three (2.6%) patients had bone marrow relapse, and one (0.87%) had an isolated central nervous system relapse. Nineteen of the patients (16.52%) died due to infection-related complications, three (2.61%) died due to progressive disease, and one (0.87%) died due to hematopoietic stem cell transplant complications. Five-year overall survival was 80%, and event-free survival was 78.3%. Our results showed that the Total XV treatment protocol could be used successfully in patients with ALL from low- and middle-income populations. However, infection-related deaths remain a significant problem.

Initial Management of Childhood Acute Immune Thrombocytopenia: Single-Center Experience of 32 Years. . ???aop.label???. doi: 10.3109/08880018.2015.1040931

This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype. Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe. The next-generation sequencing method was used to analyze single nucleotide and copy number variations in all genes associated with HS via clinical exome sequencing (CES). The relationship between the genes with detected variants and the clinical presentation in the patients was investigated. In total, 21 variants were detected in five HS-related genes. Twelve of them were previously reported variants, and nine of them were novel variants. Seven of them were pathogenic and two of them were classified as Variant of Uncertain Significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG). Herein we have discussed the phenotypic effects of novel pathogenic variants in SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes. Patients with EPB42 and SLC4A1 gene pathogenic variants had less severe clinical findings compared to other gene variants according to Eber's classification. On the other hand, patients carrying pathogenic variants of SPTA1 and SPTB genes had more severe clinical presentation. Molecular diagnosis of HS is important for treatment, prediction of the clinical outcome, and appropriate genetic counseling. As a result, our study contributes to the genotype-phenotype distribution of HS by introducing novel variants to the literature.