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Article
Open AccessIncidence of bacterial and fungal infections in Polish pediatric patients with acute lymphoblastic leukemia during the pandemic
The most common complications related to the treatment of childhood acute lymphoblastic leukemia (ALL) are infections. The aim of the study was to analyze the incidence and mortality rates among pediatric pati...
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Article
Open AccessHypodiploidy in a pediatric patient of T-cell acute lymphoblastic leukemia: a case report
T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is asso...
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Article
Open AccessA new family with spastic paraplegia type 51 and novel mutations in AP4E1
Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 re...
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Article
Open AccessThree case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare am...
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Article
Open AccessResults of two consecutive treatment protocols in Polish children with acute lymphoblastic leukemia
The aim of the study was to retrospectively compare the effectiveness of the ALL IC-BFM 2002 and ALL IC-BFM 2009 protocols and the distribution of risk groups by the two protocols after minimal residual diseas...
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Article
Open AccessChromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype
Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of develo** lymphoproliferative disorders, mainly non-Hodgkin lymphom...
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Article
Open AccessThe importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams–Beuren syndrome
The differential diagnosis in children with the systemic vasculopathy is still a challenge for clinicians. The progress in vascular imaging and the latest recommendations improve the diagnostic process, but on...
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Article
Open AccessComprehensive chromosomal aberrations in a case of a patient with TCF3-HLF-positive BCP-ALL
The use of high-throughput analytical techniques has enabled the description of acute lymphoblastic leukaemia (ALL) subtypes. The TCF3-HLF translocation is a very rare rearrangement in ALL that is associated with...
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Article
Open AccessImpact of early chimerism status on clinical outcome in children with acute lymphoblastic leukaemia after haematopoietic stem cell transplantation
The significance of very early chimerism assessment before day + 28, which is considered the moment of engraftment, is still unclear. In this retrospective study, we evaluated the clinical impact of very early...
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Article
Open AccessMLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL
Chromosome 21 abnormalities are the most frequent genetic findings in childhood B cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients are effectively diagnosed with fluorescence i...
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Article
Open AccessAssociation of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL
Minimal residual disease (MRD) enables reliable assessment of risk in acute lymphoblastic leukemia (ALL). However, little is known on association between MRD status and germline genetic variation. We examined ...
