Publications by authors named "M Szczepanowski"

Article Synopsis
  • * A study of 10 cases revealed that this translocation connects the interferon regulatory factor 4 (IRF4) gene on chromosome 6 with the regulator of chromosome condensation 1 (RCC1) gene on chromosome 1, resulting in fusion transcripts.
  • * Despite the fusion, the expression levels of RCC1 and IRF4 proteins remained normal, and the cases also displayed typical mutations related to CLL, suggesting a linkage with the IGHV-unmutated subtype.
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Introduction: Regular physical activity is associated with a wide range of health benefits in youth. While previous studies have identified disparities in physical activity among youth by gender identity and sexual attraction, these have seldom been explored in Canadian youth.

Methods: Data from the 2019 Canadian Health Survey on Children and Youth were used to assess prevalence of and time spent in organized sports participation, total physical activity and active transportation by gender identity (non-cisgender vs.

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In the effort to improve immunophenotyping and minimal residual disease (MRD) assessment in acute lymphoblastic leukemia (ALL), the international Berlin-Frankfurt-Münster (iBFM) Flow Network introduced the myelomonocytic marker CD371 for a large prospective characterization with a long follow-up. In the present study, we aimed to investigate the clinical and biological features of CD371-positive (CD371pos) pediatric B-cell precursor ALL (BCP-ALL). From June 2014 to February 2017, 1812 pediatric patients with newly diagnosed BCP-ALLs enrolled in trial AIEOP-BFM ALL 2009 were evaluated as part of either a screening (n = 843, Italian centers) or validation cohort (n = 969, other iBFM centers).

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Introduction: The malignant transformation leading to a maturation arrest in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) occurs early in B-cell development, in a pro-B or pre-B cell, when somatic recombination of variable (V), diversity (D), and joining (J) segment immunoglobulin (IG) genes and the B-cell rescue mechanism of V replacement might be ongoing or fully active, driving clonal evolution. In this study of newly diagnosed BCP-ALL, we sought to understand the mechanistic details of oligoclonal composition of the leukemia at diagnosis, clonal evolution during follow-up, and clonal distribution in different hematopoietic compartments.

Methods: Utilizing high-throughput sequencing assays and bespoke bioinformatics we identified BCP-ALL-derived clonally-related IGH sequences by their shared 'DNJ-stem'.

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Detection of patient- and tumor-specific clonally rearranged immune receptor genes using real-time quantitative (RQ)-PCR is an accepted method in the field of precision medicine for hematologic malignancies. As individual primers are needed for each patient and leukemic clone, establishing performance specifications for the method faces unique challenges. Results for series of diagnostic assays for CLL and ALL patients demonstrate that the analytic performance of the method is not dependent on patients' disease characteristics.

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