Judit Várkonyi
A5112203868- Multiple Myeloma Research and Treatments
- Mast cells and histamine
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Asthma and respiratory diseases
- Iron Metabolism and Disorders
- Urticaria and Related Conditions
- Hemoglobinopathies and Related Disorders
- Protein Degradation and Inhibitors
- Trace Elements in Health
- Chronic Lymphocytic Leukemia Research
- Ubiquitin and proteasome pathways
- Eosinophilic Disorders and Syndromes
- Hematological disorders and diagnostics
- Food Allergy and Anaphylaxis Research
- Allergic Rhinitis and Sensitization
- Peptidase Inhibition and Analysis
- Histone Deacetylase Inhibitors Research
- Polyamine Metabolism and Applications
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Lysosomal Storage Disorders Research
- Kruppel-like factors research
- Bone and Joint Diseases
- PI3K/AKT/mTOR signaling in cancer
Semmelweis University
2016-2025
Medical University of Vienna
2020
Assistance Publique – Hôpitaux de Paris
2020
Pitié-Salpêtrière Hospital
2020
University of California, San Francisco
2020
Sorbonne Université
2020
Institut des Maladies Génétiques Imagine
2020
Université Paris Cité
2020
Országos Korányi Tbc és Pulmonológiai Intézet
2015
Medical University of Lodz
2014
Abstract Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network Mastocytosis registry. Thirty-one (34%) had diagnosis an associated hematologic neoplasm (MCL-AHN). Chronic (lack C-findings) comprised 14% patients, and only 4.5% “leukemic MCL” (≥10% circulating MCs). KIT D816V was found in 62/85 (73%) evaluable patients; 9 (11%) individuals exhibited...
In systemic mastocytosis (SM), the clinical features and survival vary greatly.Patient-related factors determining outcome in SM are largely unknown. Ivyspring International
Compelling biological and epidemiological evidences point to a key role of genetic variants the TERT TERC genes in cancer development. We analyzed variability these two gene regions using samples 2,267 multiple myeloma (MM) cases 2,796 healthy controls. found that variant, rs2242652, is associated with reduced MM susceptibility (OR = 0.81; 95% CI: 0.72–0.92; p 0.001). In addition we measured leukocyte telomere length (LTL) subgroup 140 who were chemotherapy‐free at time blood donation 468...
Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report simultaneous occurrence with parkinsonian in four adult patients. The patients had a relatively early onset manifestations, and their was rapidly progressive refractory to therapy. Each different genotype, although alleles carried common N370S mutation. No mutations were identified genes for parkin or alpha-synuclein. concurrence these two phenotypes,...
Abstract Telomere length measured in leukocyte (LTL) has been found to be associated with the risk of developing several cancer types, including myeloproliferative neoplasms (MPNs). LTL is genetically determined by, at least, 11 SNPs previously shown influence LTL. Their combination a score used as genetic instrument measure and evaluate causative association between types. We tested, for first time, “teloscore” 480 MPN patients 909 healthy controls European multi-center case–control study....
Expression of CD2, CD25 and/or CD30 in extracutaneous mast cells (MC) is a minor diagnostic criterion for systemic mastocytosis (SM) the classification World Health Organization and International Consensus Classification. So far, it remains unknown whether expression these antigens on MC prognostic significance SM. We performed retrospective multi-center study patients with SM using data set registry European Competence Network Mastocytosis, including 5034 various disorders. The percentage...
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for C282Y and H63D mutations HFE gene responsible hereditary hemochromatosis revealed a significantly increased frequency these when compared to healthy blood donors reflecting average population. Among 50 examined [26 refractory anemia (RA), 9 ring sideroblasts (RARS), 2 excess blasts (RAEB) 13 in transformation (RAEB-t)] there were 24 heterozygotes (20 4 C282Y), 1 homozygote compound heterozygote. The...
Abstract Certain laboratory abnormalities correlate with subvariants of systemic mastocytosis (SM) and are often prognostically relevant. To assess the diagnostic prognostic value individual serum chemistry parameters in SM, 2607 patients enrolled within European Competence Network on Mastocytosis 575 German Registry Eosinophils Mast Cells were analyzed. For screening diagnosis tryptase was identified as most specific parameter. differentiation between indolent advanced SM (AdvSM), following...
Genetic background plays a role in multiple myeloma susceptibility. Several single-nucleotide polymorphisms (SNP) associated with genetic susceptibility to were identified the last years, but only few of them validated independent studies.With aim conclusively validate strongest associations so far reported, we selected rs2227667 (SERPINE1), rs17501108 (HGF), rs3136685 (CCR7), rs16944 (IL1B), rs12147254 (TRAF3), rs1805087 (MTR), rs1800629 (TNF-α), rs7516435 (CASP9), rs1042265 (BAX),...
Abstract Telomeres are involved in processes like cellular growth, chromosomal stability, and proper segregation to daughter cells. Telomere length measured leukocytes (LTL) has been investigated different cancer types, including multiple myeloma (MM). However, LTL measurement is prone heterogeneity due sample handling study design (retrospective vs. prospective). genetically determined; genome-wide association studies identified 11 SNPs that, combined a score, can be used as genetic...