UDC 616-053.2:616.89-056.7:577.21

Neurofibromatosis type 1 is a common autosomal-dominant neurocutaneous disorder with broad molecular and clinical heterogeneity. Pediatric patients frequently present early with pigmentary findings, neurodevelopmental issues, and risk of tumor development, including plexiform neurofibromas. In this paper, we aimed to synthesize recent advances in the molecular genetics of neurofibromatosis type 1 and genotype-phenotype correlations, and to illustrate clinical variability through three anonymized pediatric cases.

UDC 616.155.392-036.17-053.2/.7-08:615.28:616.151.5(048.8)

The introduction of BCR::ABL1 tyrosine kinase inhibitors (TKIs) has transformed pediatric chronic myeloid leukemia (CML) from a life-threatening disease often requiring transplantation into a manageable chronic condition. However, this success necessitates a shift in clinical focus from acute survival to the multi-system, long-term toxicities incurred over a lifetime of therapy.

UDC 616.155.392-006.44-06:616-005.6+616-005.1:615.277.3+616-084

The long-term use of tyrosine kinase inhibitors (TKIs) has converted chronic myeloid leukemia (CML) into a largely controllable chronic disease. This therapeutic success has shifted clinical priorities toward complications that may compromise survivorship, particularly the concurrent risks of thrombosis and bleeding arising from both disease biology and treatment-related, off-target effects.