A5069409688- Acute Lymphoblastic Leukemia research
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Childhood Cancer Survivors' Quality of Life
- Chronic Lymphocytic Leukemia Research
- Mitochondrial Function and Pathology
- Glutathione Transferases and Polymorphisms
- Endoplasmic Reticulum Stress and Disease
- Genetic and Kidney Cyst Diseases
- Pregnancy and Medication Impact
- Cancer Genomics and Diagnostics
- Platelet Disorders and Treatments
- Melanoma and MAPK Pathways
- Mechanisms of cancer metastasis
- Tumors and Oncological Cases
- Genomics, phytochemicals, and oxidative stress
- Immunodeficiency and Autoimmune Disorders
- Genetic Syndromes and Imprinting
- Genetics, Bioinformatics, and Biomedical Research
- Hemophilia Treatment and Research
- Prostate Cancer Treatment and Research
- CAR-T cell therapy research
- Reproductive System and Pregnancy
- Lymphoma Diagnosis and Treatment
- DNA Repair Mechanisms
Medical University of Lodz
2010-2024
The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In order investigate the impact deletions and promoter methylation 9p21, 641 newly diagnosed BCP-ALL using specific multiplex ligation-dependent probe amplification (MS-MLPA) were investigated. A total 169 (26.4%) microdeletions detected, which 71...
The strongest predictors of outcome in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are minimal residual disease (MRD) and specific molecular abnormalities. One unfavorable prognostic factor is the presence IKZF1 gene aberrations, particularly when co-occurring with high MRD level at end induction treatment. present study determines predictive value a recently-defined IKZF1-plus (IKZF1plus ) microdeletion profile 373 children BCP-ALL treated according to...
We prospectively examined whether surface expression of Cytokine Receptor-Like Factor 2 (CRLF2) on leukemic blasts is associated with survival and induction treatment response in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. Flow cytometric analysis bone marrow-derived cells revealed that 7.51% (29/286) 386 BCP-ALL patients were CRLF2-positive (CRLF2pos) at diagnosis. The median minimal residual disease (MRD) was lower CRLF2pos than CRLF2-negative (CRLF2neg) day...
Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, clinical potentially therapeutic heterogeneity of female calls for comprehensive molecular in each case. Currently, investigations not a part routine, state-funded, diagnostics Poland, thus epidemiological data missing.We set out to perform analysis Polish females with A.Eighteen A (including...
We analyzed the pattern of whole-genome copy number alterations (CNAs) and their association with kinetics blast clearance during induction treatment among 195 pediatric patients B-cell precursor acute lymphoblastic leukemia (BCP-ALL) who displayed intermediate or high levels minimal residual disease (MRD). Using unsupervised hierarchical clustering CNAs > 5 Mbp, we dissected three clusters leukemic samples distinct [A - early slow responders (n=105), B persistent (n=24), C fast low but...
Alström syndrome (ALMS) and Bardet–Biedl (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity retinal degeneration. ALMS BBS belong to the ciliopathies, which known have expression products genes, encoding them as cilia-localized proteins in multiple target organs. The aim this study was perform transcriptomic proteomic analysis on cellular models syndromes identify distinct pathological mechanisms present both syndromes. For purpose,...
Abstract Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder, with only about 100 cases reported worldwide. It characterized by congenital lesions of the eye, skin, and central nervous system. Only recently, potential causative FGFR1 point mutations have been identified in brain tumors cultured skin biopsies from patients this condition. Here, we analyzed molecular status patient ECCL coexisting pilocytic astrocytoma detected N546K mutation. The presence alteration...
T-cell acute lymphoblastic leukemia (T-ALL) is a highly heterogeneous disease, and numerous genetic aberrations in the leukemic genome are responsible for biological clinical differences among particular ALL subtypes. However, there limited knowledge regarding association of whole-genome copy number abnormalities (CNAs) childhood T-ALL with course its outcome. The aim this study was to identify pattern CNAs 86 newly diagnosed cases using high-density single-nucleotide polymorphism array. We...
The germline variant at rs3824662 in GATA3 is a risk locus for Philadelphia-like acute lymphoblastic leukemia (Ph-like ALL), the biological subtype of B-cell precursor (BCP)-ALL defined by distinct gene expression profile and presence specific somatic aberrations including rearrangements CRLF2. In this study, we investigated whether associates with CRLF2 leukemic cells predicts prognosis pediatric BCP-ALL patients treated according to ALL Intercontinental Berlin-Frankfurt-Münster (IC BFM)...
Abstract Background Wolfram syndrome (WFS) is a rare autosomal recessive in which diabetes mellitus and neurodegenerative disorders occur as result of Wolframin deficiency increased ER stress. In addition, WFS1 leads to calcium homeostasis disturbances can change mitochondrial dynamics. The aim this study was evaluate protein levels changes gene transcription on human WFS cell model under experimental Methods We performed transcriptomic proteomic analysis model—skin fibroblasts reprogrammed...
Microsomal glutathione transferase 1 (MGST1) possesses and peroxidase activities is active in biotransformation of xenobiotics defense against oxidative stress. To assess MGST1 role the development functioning PC12 cells, we constructed a cell line with reduced (PC12_M). Real-time PCR immunoblot assays showed expression lowered to 60 % immunocytochemical analyses demonstrated an altered concentration distribution enzyme. PC12_M cells revealed larger tendency grow clusters, weaker adhesion,...
Chromosome 21 abnormalities are the most frequent genetic findings in childhood B cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients effectively diagnosed with fluorescence situ hybridization (FISH) and karyotyping; however, some cases may require additional tools to be used. Bone marrow samples 373 BCP-ALL were tested for chromosome copy number variations (CNVs) Multiplex Ligation-dependent Probe Amplification (MLPA) P327 array. Results from MLPA cytogenetics...
When all of the usually applied treatment methods fail, we have to try something innovative. In this vignette, present history first in Poland CAR-T cell therapy a child with refractory B-cell acute lymphoblastic leukemia (ALL). more than 10 months observation time post infusion patient remains MRD-free chance for long awaited clinical cure.
Abstract Background: Wolfram syndrome (WFS) is a rare autosomal recessive in which diabetes mellitus and neurodegenerative disorders occur as result of wolframin deficiency increased ER stress. In addition, WFS1 leads to calcium homeostasis disturbances can change mitochondrial dynamics. The aim this study was evaluate protein levels changes gene transcription on human WFS cell model under experimental Methods: We performed transcriptomic proteomic analysis - skin fibroblasts reprogrammed...