KALINA, Dale Robert, Vegard Aas-Aune NORDHEIM, Zbyněk ŠPLÍCHAL, Julie BIENERTOVÁ VAŠKŮ, Josef TOMANDL, Michal JURAJDA, Petr BIENERT, Zdenka KŘENOVÁ, Jaroslav ŠTĚRBA and Anna VAŠKŮ. B-cell activating factor: variability of selected exonic regions and association with acute lymphoblastic leukemia in paediatric patients. In European Human Genetics Conference 2012. 2012.
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Basic information
Original name B-cell activating factor: variability of selected exonic regions and association with acute lymphoblastic leukemia in paediatric patients
Name in Czech B-cell activating factor (BAFF) - variabilita ve vybraných exonických oblastech u pediatrických pacientů s akutním lymfoblastickou leukémií
Authors KALINA, Dale Robert (124 Canada), Vegard Aas-Aune NORDHEIM (578 Norway), Zbyněk ŠPLÍCHAL (203 Czech Republic), Julie BIENERTOVÁ VAŠKŮ (203 Czech Republic, guarantor, belonging to the institution), Josef TOMANDL (203 Czech Republic), Michal JURAJDA (203 Czech Republic), Petr BIENERT (203 Czech Republic), Zdenka KŘENOVÁ (203 Czech Republic), Jaroslav ŠTĚRBA (203 Czech Republic) and Anna VAŠKŮ (203 Czech Republic).
Edition European Human Genetics Conference 2012, 2012.
Other information
Original language English
Type of outcome Conference abstract
Field of Study Genetics and molecular biology
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
RIV identification code RIV/00216224:14110/12:00060617
Organization unit Faculty of Medicine
Keywords (in Czech) BAFF; akutní lymfoblastická leukémie; genetická variabilita
Keywords in English BAFF; acute lymphoblastic leukemia; genetic variability
Tags International impact, Reviewed
Changed by Changed by: prof. MUDr. Julie Dobrovolná, Ph.D., učo 4805. Changed: 19/8/2012 23:51.
Abstract
Introduction: There is emerging evidence that B-lineage neoplasms have aberrant expression of B-cell activating factor (BAFF, TNFSF13B) that enables the B cells to escape apoptosis. The aim of our study was to investigate circulating levels of BAFF in paediatric malignancies related to B-cell growth, i.e. B-cell acute lymphoblastic leukaemia (B-ALL) and B-lineage lymphomas. Materials and methods: This cross-sectional study included the total of 18 children with B-lineage neoplasms whose serum levels of BAFF before the start of the treatment were examined using the ELISA-based methodology. Exons 1, 4 and 5 of BAFF gene were investigated using the direct sequencing in all patients. Results: We observed significant differences in circulating levels of BAFF between the B-ALL patients and B-cell lymphoma patients, the circulating levels of BAFF being substantially higher in B-ALL cases than in B-cell lymphoma cases. However, no genetic variability was observed in any of examined exonic regions of BAFF gene. Discussion: This is the first study to report elevated BAFF levels in acute lymphoblastic leukemia in children. Although highly limited in number of cases, our study provides a potential basis for further evaluation of BAFF as a diagnostic and/or prognostic marker in B-ALL.
Abstract (in Czech)
Prezentujeme zde dílčí výsledky našeho zkoumání genetické variability v genu pro BAFF u pediatrických pacientů s akutní lymfoblastickou leukémií, přičemž na základě dosud dostupných výsledků se nezdá, že by variabilita v genu pro BAFF byla významným faktorem asociovaným s tímto onemocněním.
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