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

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.

Základní údaje

Originální název

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

Název česky

B-cell activating factor (BAFF) - variabilita ve vybraných exonických oblastech u pediatrických pacientů s akutním lymfoblastickou leukémií

Autoři

KALINA, Dale Robert; Vegard Aas-Aune NORDHEIM; Zbyněk ŠPLÍCHAL; Julie BIENERTOVÁ VAŠKŮ; Josef TOMANDL ; Michal JURAJDA ; Petr BIENERT; Zdenka KŘENOVÁ; Jaroslav ŠTĚRBA a Anna VAŠKŮ

Vydání

European Human Genetics Conference 2012, 2012

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Kód RIV

RIV/00216224:14110/12:00060617

Organizační jednotka

Lékařská fakulta

Klíčová slova česky

BAFF; akutní lymfoblastická leukémie; genetická variabilita

Klíčová slova anglicky

BAFF; acute lymphoblastic leukemia; genetic variability

Příznaky

Mezinárodní význam, Recenzováno

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

Anotace

ORIG CZ

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.

Česky

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.

Citovat

KALINA, Dale Robert; Vegard Aas-Aune NORDHEIM; Zbyněk ŠPLÍCHAL; Julie BIENERTOVÁ VAŠKŮ; Josef TOMANDL; Michal JURAJDA; Petr BIENERT; Zdenka KŘENOVÁ; Jaroslav ŠTĚRBA a 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.

@proceedings{989332,
   author = {Kalina, Dale Robert and Nordheim, Vegard AasandAune and Šplíchal, Zbyněk and Bienertová Vašků, Julie and Tomandl, Josef and Jurajda, Michal and Bienert, Petr and Křenová, Zdenka and Štěrba, Jaroslav and Vašků, Anna},
   booktitle = {European Human Genetics Conference 2012},
   keywords = {BAFF; acute lymphoblastic leukemia; genetic variability},
   language = {eng},
   title = {B-cell activating factor: variability of selected exonic regions and association with acute lymphoblastic leukemia in paediatric patients},
   year = {2012}
}

TY  - CONF
ID  - 989332
AU  - Kalina, Dale Robert - Nordheim, Vegard Aas-Aune - Šplíchal, Zbyněk - Bienertová Vašků, Julie - Tomandl, Josef - Jurajda, Michal - Bienert, Petr - Křenová, Zdenka - Štěrba, Jaroslav - Vašků, Anna
PY  - 2012
TI  - B-cell activating factor: variability of selected exonic regions and association with acute lymphoblastic leukemia in paediatric patients
KW  - BAFF
KW  - acute lymphoblastic leukemia
KW  - genetic variability
N2  - 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.
ER  -

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