a 2012

B-cell activating factor: variability of selected exonic regions and association with acute lymphoblastic leukemia in paediatric patients

KALINA, Dale Robert, Vegard Aas-Aune NORDHEIM, Zbyněk ŠPLÍCHAL, Julie BIENERTOVÁ VAŠKŮ, Josef TOMANDL et. al.

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

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

Genetics and molecular biology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

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
Změněno: 19/8/2012 23:51, prof. MUDr. Julie Dobrovolná, Ph.D.

Abstract

V originále

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.

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.