A5048610621- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Chronic Myeloid Leukemia Treatments
- Multiple Myeloma Research and Treatments
- Protein Degradation and Inhibitors
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Cancer Genomics and Diagnostics
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Kruppel-like factors research
- Hemophilia Treatment and Research
- Vitamin K Research Studies
- Lymphoma Diagnosis and Treatment
- Iron Metabolism and Disorders
- Eosinophilic Disorders and Syndromes
- Cancer-related gene regulation
- Hemoglobinopathies and Related Disorders
- Epigenetics and DNA Methylation
- Peptidase Inhibition and Analysis
- Immunodeficiency and Autoimmune Disorders
- Hepatitis Viruses Studies and Epidemiology
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
National Center for Epidemiology
2019-2024
Semmelweis University
2021
Országos Reumatológiai és Fizioterápiás Intézet
2019
Hungarian National Blood Transfusion Service
2010-2018
GTx (United States)
2014
National Medical Center
2006
Hungarian Academy of Sciences
2005
National Institute of Oncology
2001
Országos Pszichiátriai és Neurológiai Intézet
1999
Somatic insertions/deletions in the calreticulin gene have recently been discovered to be causative alterations myeloproliferative neoplasms. A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting Sanger-sequencing was applied for detection three driver mutations (in Janus kinase 2, leukemia virus oncogene genes) 289 cases essential thrombocythemia 99 primary myelofibrosis. In thrombocythemia, 154 (53%) 2 V617F, 96...
Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal caused the deficiency of activated C1 esterase inhibitor protein (C1-INH, type I (C1NH): reduced serum antigen level, II: activity normal level). The aim present study was to determine disease-causing mutations in C1INH gene (SERPING1) among Hungarian HAE-patients. estimated number affected HAE-families Hungary 40–50, out which 26 families (type I:23, II:3)...
Abstract Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS caused by dominant negative (DN) and haploinsufficient (HI) mutations of FBN1 gene. Our aim was to identify patients high detection rate investigate use gene panel for Marfanoid habitus. We also aimed examine correlations between genotype cardiovascular predict “malignant” mutations. Methods 136 individuals were enrolled. In first phase,...
Mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) are genetic alterations in acute myeloid leukemia (AML). The aim our study was to investigate the frequency prognostic effect IDH1/2 mutations together followed by an individual analysis each substitution a Hungarian cohort consisting 376 patients with AML. IDH1(mut) IDH2(mut) were mutually exclusive, detected 8.5% 7.5% cases, respectively. IDH1/2(mut) associated with: older age (p = 0.001), higher average platelet count intermediate...
<i>Background:</i> Additional chromosome abnormalities (ACAs), mutations of the BCR-ABL tyrosine kinase domain (TKD) and splice variants may cause resistance to first- second-generation inhibitors (TKIs) in chronic myelogenous leukemia (CML) Philadelphia-positive (Ph+) acute lymphoid (ALL). <i>Methods:</i> Karyotyping TKD mutation screening were performed 71 imatinib-resistant CML patients 6 Ph+ ALL patients. A total 56 out these 77 received TKI....
ABCC6 encodes MRP6, a member of the ABC protein family with an unknown physiological role. The human and its two pseudogenes share 99% identical DNA sequence. Loss-of-function mutations are associated development pseudoxanthoma elasticum (PXE), recessive hereditary disorder affecting elastic tissues. Various disease-causing were found in coding region; however, mutation detection rate region bona fide PXE patients is only approximately 80%. This suggests that polymorphisms or regulatory...
The germline telomerase reverse transcriptase (TERT) rs2736100_C variant was identified as a susceptibility factor for variety of solid tumors and recently myeloproliferative neoplasms (MPN).LightCycler melting curve analysis applied to detect risk alleles TERT Janus kinase 2 (JAK2) rs12343867_C tagging 46/1 haplotype in 584 BCR-ABL1-negative MPN, 308 acute, 86 chronic myeloid leukemia (AML CML) patients 400 healthy individuals.TERT showed an increased allele frequency MPN compared with...
Internal tandem duplications (ITDs) of the fms-like tyrosine kinase 3 (FLT3) gene occur in about 25% patients with adult acute myeloid leukemia (AML). The aim our study was to investigate frequency FLT3-ITD mutations followed by a detailed analysis mutational load and size ITD insertions cohort consisting 324 younger than 60 years old treated curative intention. alone did not influence overall survival (OS) or disease-free (DFS). We observed worse OS DFS for high indicative loss FLT3 wild...
Abstract During the formation of Philadelphia (Ph) chromosome, in majority chronic myelogenous leukemia (CML) patients, chromosome 22 breakpoint is located major cluster region BCR gene (M‐bcr). Minor and micro regions (m‐bcr with e1a2 transcript µ‐bcr e19a2 transcript) are rarely affected have been suggested to be associated peculiar CML phenotypes. Despite different clinical characteristics, it currently not established, whether therapeutic options preferably recommended for treatment or...
Background Prognostic risk stratification according to acquired or inherited genetic alterations has received increasing attention in acute myeloid leukemia recent years. A germline Janus kinase 2 haplotype designated as the 46/1 been reported be associated with an predisposition myeloproliferative neoplasms, and also normal karyotype. The aim of this study was assess prognostic impact on disease characteristics treatment outcome leukemia.Design Methods rs12343867 single nucleotide...
Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use appropriate detection methods. In this report, on example diagnostic odyssey a patient with Marfan syndrome (MFS) harboring hitherto unreported 32-kb FBN1 deletion, we highlight need for and feasibility testing (>1 kb) disorders current next-generation sequencing (NGS) era.
Multiple myeloma (MM) is the second most common hematological malignancy. Approximately 15% of MM patients are affected by t(4;14) translocation resulting in IGH::NSD2 fusion transcript. Breakage occurs three major breakpoint regions within NSD2 gene (MB4-1, MB4-2, and MB4-3), where MB4-1 leads to production full-length protein, while truncated proteins expressed other two cases. Measurable residual disease (MRD) has been conclusively established as a crucial prognostic factor MM. The...
Hereditary angioedema due to C1-inhibitor deficiency is a life-threatening condition, which manifests as edematous attacks involving subcutaneous tissues and/or the upper airway/gastrointestinal mucosa. Celiac disease gluten-sensitive small intestinal disorder that can lead severe villous atrophy, malabsorption, and malignancy. Both hereditary celiac may present with abdominal symptoms. Our aim was study occurrence of in population, well analyze clinical course cases both diseases.One...
Abstract Systematic analyses of human leukocyte antigen ( HLA ) profiles in different populations may increase the efficiency bone marrow donor selection and help reconstructing peopling history. We typed ‐A, ‐ B , DRB1 allele groups two cohorts 2402 Hungarians 186 Hungarian Gypsies compared them with several Central‐European, Spanish Gypsy, Indian populations. Our results indicate that European Gypsy share a common origin but diverged genetically as consequence founder effect rapid genetic...
The need for sensitive monitoring of minimal/measurable residual disease (MRD) in multiple myeloma emerged as novel therapies led to deeper responses. Moreover, the potential benefits blood-based analyses, so-called liquid biopsy is prompting more and studies assess its feasibility. Considering these recent demands, we aimed optimize a highly molecular system based on rearranged immunoglobulin (Ig) genes monitor MRD from peripheral blood. We analyzed small group patients with high-risk...
Abstract Background & Aims Pattern recognition receptors ( PRR s) have a key role in the innate host defense. Functional polymorphisms of various s been established to contribute an increased susceptibility spontaneous bacterial peritonitis SBP ). Their development cirrhosis‐associated infections BI ), beyond or progressive disease course related pathological translocation BT ) remains unknown. Methods Three hundred and forty‐nine patients with cirrhosis were genotyped for common NOD 2...