A5085041267- Acute Lymphoblastic Leukemia research
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Childhood Cancer Survivors' Quality of Life
- Biochemical and Molecular Research
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Lymphoma Diagnosis and Treatment
- CAR-T cell therapy research
- Histone Deacetylase Inhibitors Research
- RNA modifications and cancer
- Protein Degradation and Inhibitors
- Retinoids in leukemia and cellular processes
- Pancreatic and Hepatic Oncology Research
- Folate and B Vitamins Research
- Cancer Genomics and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- DNA Repair Mechanisms
- Cancer therapeutics and mechanisms
- RNA Interference and Gene Delivery
- Genetics and Neurodevelopmental Disorders
- Advanced biosensing and bioanalysis techniques
University Hospital in Motol
2016-2025
Charles University
2016-2025
Opća bolnica Karlovac
2019
University Hospital Schleswig-Holstein
2013-2018
University of Lübeck
2013-2018
German Center for Infection Research
2018
Kiel University
2018
Jazz Pharmaceuticals (Italy)
2018
International Breast Cancer Study Group
2018
University of Zurich
2018
Purpose Somatic deletions that affect the lymphoid transcription factor–coding gene IKZF1 have previously been reported as independently associated with a poor prognosis in pediatric B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). We now refined prognostic strength of by analyzing effect co-occurring deletions. Patients and Methods The analysis involved 991 patients BCP ALL treated Associazione Italiana Ematologia ed Oncologia Pediatrica–Berlin-Frankfurt-Muenster (AIEOP-BFM) 2000...
Novel biological subtypes and clinically important genetic aberrations (druggable lesions, prognostic factors) have been described in B-other acute lymphoblastic leukemia (ALL) during the last decade; however, due to a lack of studies on unselected cohorts, their population frequency mutual associations still be established. We studied 110 consecutively diagnosed uniformly treated childhood patients using single nucleotide polymorphism arrays whole exome/transcriptome sequencing. The...
To characterize the incidence, clinical features and genetics of ETV6-ABL1 leukemias, representing targetable kinase-activating lesions, we analyzed 44 new published cases ETV6-ABL1-positive hematologic malignancies [22 acute lymphoblastic leukemia (13 children, 9 adults) 22 myeloid (18 myeloproliferative neoplasms, 4 leukemias)]. The presence fusion was ascertained by cytogenetics, fluorescence in-situ hybridization, reverse transcriptase-polymerase chain reaction RNA sequencing. Genomic...
Abstract We have shown previously that ETV6/RUNX1 ‐positive acute lymphoblastic leukemia (ALL) is distinguishable from other ALL subtypes by CD27 pos /CD44 low‐neg immunophenotype. During diagnostic immunophenotyping of 573 childhood B‐cell precursor (BCP‐ALL), we identified eight cases with this immunophenotype among “B‐other ALL” (BCP‐ALL negative for routinely tested chromosomal/genetic aberrations). aimed to elucidate whether these belong the recently described ‐like defined ‐specific...
B-acute lymphoblastic leukemia (B-ALL) comprises a wide variety of subtypes with diverse clinical and biological features outcomes.Risk-stratified targeted therapy according to genetic subtype has improved B-ALL outcomes [1].Next generation sequencing (NGS) identified several novel subtypes, including one ZNF384 rearrangements involving located at position 12p13.31[2][3][4][5][6][7].Interestingly, patients this appear express various leukemic phenotypes, (with or without aberrant expression...
ABL-class fusion genes other than BCR-ABL1 have been identified in approximately 3% of children with newly diagnosed acute lymphocytic leukaemia, and studies suggest that leukaemic cells carrying fusions can be targeted successfully by tyrosine-kinase inhibitors. We aimed to establish the baseline characteristics outcomes paediatric patients B-cell leukaemia pre-tyrosine-kinase inhibitor era.This multicentre, retrospective, cohort study included (aged 1-18 years) (ABL1 fusion-positive, ABL2...
Acute lymphoblastic leukemia (ALL) is the most prevalent type of cancer occurring in children. ALL characterized by structural and numeric genomic aberrations that strongly correlate with prognosis clinical outcome. Usually, a combination cyto- molecular genetic methods (karyotyping, array-CGH, FISH, RT-PCR, RNA-Seq) needed to identify all relevant for risk stratification. We investigated feasibility optical genome mapping (OGM), DNA-based method, detect these an all-in-one approach. As...
Current classifications (World Health Organization-HAEM5/ICC) define up to 26 molecular B-cell precursor acute lymphoblastic leukemia (BCP-ALL) disease subtypes by genomic driver aberrations and corresponding gene expression signatures. Identification of transcriptome sequencing (RNA-Seq) is well established, while systematic approaches for analysis are less advanced. Therefore, we developed ALLCatchR, a machine learning-based classifier using RNA-Seq data allocate BCP-ALL samples all 21...
Recently, we described B-cell precursor acute lymphoblastic leukemia (BCP-ALL) subtype with early switch to the monocytic lineage and loss of immunophenotype, including CD19 expression. Thus far, genetic background has remained unknown. Among 726 children consecutively diagnosed BCP-ALL, 8% patients experienced detectable by flow cytometry (FC). Using exome RNA sequencing, was found positively correlate three different subtypes: PAX5-P80R mutation (5 cases out 5), rearranged DUX4 (DUX4r; 30...
ABL-class fusions other than BCR-ABL1 characterize around 2-3% of precursor B-cell acute lymphoblastic leukemia. Case series indicated that patients suffering from these subtypes have a dismal outcome and may benefit the introduction tyrosine kinase inhibitors. We analyzed clinical characteristics 46 fusion positive cases treated according to AIEOP-BFM (Associazione Italiana di Ematologia-Oncologia Pediatrica-Berlin-Frankfurt-Münster) ALL 2000 2009 protocols; 13 them received inhibitor (TKI)...
ERG-deletions occur recurrently in acute lymphoblastic leukemia, especially the DUX4-rearranged subtype. The ERG-deletion was shown to positively impact prognosis of patients with IKZF1-deletion and its presence precludes assignment into IKZF1plus group, a novel high-risk category on AIEOP-BFM ALL trials. We analyzed different methods detection rate, evaluated as potential marker for studied associations molecular clinical characteristics within this leukemia subtype, clonality. Using...