A5083604787- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Multiple Myeloma Research and Treatments
- Cancer Mechanisms and Therapy
- Eosinophilic Disorders and Syndromes
- Lymphoma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Chromosomal and Genetic Variations
- Hematopoietic Stem Cell Transplantation
- Protein Degradation and Inhibitors
- Histone Deacetylase Inhibitors Research
- Lung Cancer Treatments and Mutations
- PI3K/AKT/mTOR signaling in cancer
- RNA modifications and cancer
- Endoplasmic Reticulum Stress and Disease
- Genetic factors in colorectal cancer
- CAR-T cell therapy research
- Hedgehog Signaling Pathway Studies
- Microtubule and mitosis dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Instytut Hematologii i Transfuzjologi
2014-2023
Polish Stem Cell Bank
2017
Centrum Medyczne Kształcenia Podyplomowego
2017
Institute of Plant Genetics, Polish Academy of Sciences
2011
Instytut Matki i Dziecka
2001-2009
Abstract Mental retardation (MR) affects approximately 2% of the population. About 10% all MR cases result from defects X‐linked genes. Mutations in most more than 20 known genes causing nonspecific form (MRX) are very rare and may account for less 0.5–1% MR. Linkage studies extended pedigrees followed by mutational analysis MRX linked interval often only way to identify a genetic cause disorder. We performed linkage several families, one family with four males we mapped disease an...
Abstract Lymph node microenvironment provides chronic lymphocytic leukaemia ( CLL ) cells with signals promoting their survival and granting resistance to chemotherapeutics. overexpress PIM kinases, which regulate apoptosis, cell cycle migration. We demonstrate that BCR crosslinking, CD 40 stimulation, coculture stromal increases s expression in cells, indicating microenvironment‐dependent regulation. 1 2 at diagnosis was higher patients advanced disease (Binet C vs. Binet A/B) those, who...
HOXA genes encode transcription factors, which are crucial for embryogenesis and tissue differentiation involved in the early stages of hematopoiesis. Aberrations their cofactor MEIS1 found human neoplasms, including acute myeloid leukemia (AML). The present study investigated role HOXA4, HOXA5 promoter DNA methylation mRNA expression AML. Samples from 78 AML patients 12 normal bone marrow (BM) samples were included. levels determined using quantitative methylation‑specific polymerase chain...
Abstract Recent advances in molecular cytogenetics enable identification of small chromosomal aberrations that are undetectable by routine chromosome banding 5–20% patients with mental retardation/developmental delay (MR/DD) and dysmorphism. The aim this study was to compare the clinical usefulness two cytogenetic techniques, metaphase high‐resolution comparative genomic hybridization (HR‐CGH) targeted array CGH, also known as Chromosomal Microarray Analysis (CMA). A total 116 unexplained...
Acute myeloid leukemia (AML) cells harbor frequent mutations in genes responsible for epigenetic modifications. Increasing evidence of clinical role DNMT3A and IDH1/2 highlights the need a robust inexpensive test to identify these routine diagnostic work-up. Herein, we compared routinely used direct sequencing method with high-resolution melting (HRM) assay screening patients AML. We show very high concordance between HRM Sanger (100% samples IDH2-R140 DNMT3-R882 mutations, 99% IDH1-R132...
Internal tandem duplication (ITD) of the FLT3 gene (Fms-like tyrosine kinase 3) is most commonly found mutation in acute myeloid leukemia (AML). The significance FLT3-ITD at diagnosis was retrospectively estimated for allo-HSCT (allogeneic hematopoietic stem cell transplantation) outcomes 140 patients, median age 38, undergoing after myeloablative conditioning first complete remission AML. detected AML 42/140 (30%) included into this study patients. At 3 years, relapse incidence (RI)...
Abstract Mutations in isocitrate dehydrogenase 1 and 2 ( IDH1/2 ) genes occur about 20% patients with acute myeloid leukemia (AML), leading to DNA hypermethylation epigenetic deregulation. We assessed the prognostic significance of mutations + 398 AML normal karyotype (NK-AML), treated daunorubicine cytarabine (DA), DA cladribine (DAC), or fludarabine. IDH2 mutation was an independent favorable factor for 4-year overall survival (OS) total NK-AML population (p = 0.03, censoring at...
Complex chromosome rearrangements (CCRs) are rare structural abnormalities that involve at least two chromosomes and more than breakpoints often associated with developmental delay, mental retardation, congenital anomalies. We report on a de novo, apparently balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) involving three in 7-year-old boy severe psychomotor neonatal muscular hypertonia, heart defect, polysyndactyly of hands feet, dysmorphic features resembling Greig cephalopolysyndactyly...
Clonal evolution drives treatment failure in multiple myeloma (MM). Here, we used a custom 372-gene panel to track genetic changes occurring during MM progression at different stages of the disease. A tumor-only targeted next-generation DNA sequencing was performed on 69 samples sequentially collected from 30 patients. The MAPK/ERK pathway mostly affected with KRAS mutated 47% Acquisition and loss mutations were observed 63% 37% patients, respectively. Four patterns mutation found:...
ARTICLE Prognostic impact of cytogenetic evolution in multiple myeloma 483 transplant (auto -HSCT) 11 have significantly improved the prognosis patients with MM.However, most cases MM are still incurable.Recent studies using next -generation sequencing (NGS) approaches provided evidence that is characterized by spatial and temporal genetic heterogeneity composed populations genetically distinct subclones, which evolve over time following a pattern INTRODUCTION Multiple (MM) third common...
FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) is aberration associated with poor prognosis in AML. We have analyzed the expression of MDR-1, MRP-1, and BCRP mRNA relation to FLT3-ITD 100 AML adult patients normal intermediate karyotype.The RQ-PCR method was performed assess mRNA, results were presented as coefficients calculated using an according Pfaffl's rule.According univariate analysis, following pretreatment variables negatively influenced disease-free survival...
We have performed detailed analysis of the genomic landscape commercially available K562 cells, employing targeted enrichment nearly 1300 cancer-related genes followed by next-generation sequencing (NGS) and also classical cytogenetics. Deep revealed 88 variants potentially biological significance. Among them we detected alterations in already known to be mutated K562, such as TP53 but several other genes, which are implicated tumorigenesis drug resistance, MLH1, ASXL1 BRCA1 most prominent...
Multiple myeloma (MM) remains an incurable malignancy of plasma cells despite constantly evolving therapeutic approaches including various types immunotherapy. Increased arginase activity has been associated with potent suppression T-cell immune responses in different cancer. Here, we investigated the role 1 (ARG1) Vκ*MYC model MM mice. ARG1 expression myeloid correlated tumor progression and was accompanied by a systemic drop ʟ-arginine levels. In MM-bearing mice antigen-induced...
Placenta performs the following functions: protection, nutrition, respiration, hormone production and excretion.As it is a great source of different cells, we are more interested to isolate them from placenta.Cells can be harvested by non-invasive methods without any ethical concerns.Due its structure placenta contains Mesenchymal Stromal Cells (MSCs) maternal fetal origin.To make selection easy, in our experiment only used placentas women who gave birth boys.We two MSCs (CD -collagenase...