Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373651" target="_blank" >RIV/00216208:11130/17:10373651 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/17:10373651

Výsledek na webu

<a href="https://doi.org/10.1182/bloodadvances.2017006734" target="_blank" >https://doi.org/10.1182/bloodadvances.2017006734</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1182/bloodadvances.2017006734" target="_blank" >10.1182/bloodadvances.2017006734</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

Popis výsledku v původním jazyce

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common childhood malignancy, characterized by a wide spectrum of genetic abnormalities, which are used in risk stratification for treatment. PAX5 encodes a transcription factor, which plays a key role in B-cell commitment and maintenance and is frequently (20% to 35%) deleted or mutated in BCP-ALL. Germline PAX5 mutations also occur in familial ALL. Furthermore, chromosomal rearrangements involving PAX5 result in the expression of potentially oncogenic PAX5 fusion genes. Here we present a subset of patients with BCP-ALL lacking the major cytogenetic abnormalities (ETV6-RUNX1, BCR-ABL1, and TCF3-PBX1 fusions, high hyperdiploidy, near-haploidy, low hypodiploidy, MLL rearrangements, or intrachromosomal amplification of chromosome 21) with intragenic amplifications of PAX5 (PAX5AMP).

Název v anglickém jazyce

Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

Popis výsledku anglicky

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common childhood malignancy, characterized by a wide spectrum of genetic abnormalities, which are used in risk stratification for treatment. PAX5 encodes a transcription factor, which plays a key role in B-cell commitment and maintenance and is frequently (20% to 35%) deleted or mutated in BCP-ALL. Germline PAX5 mutations also occur in familial ALL. Furthermore, chromosomal rearrangements involving PAX5 result in the expression of potentially oncogenic PAX5 fusion genes. Here we present a subset of patients with BCP-ALL lacking the major cytogenetic abnormalities (ETV6-RUNX1, BCR-ABL1, and TCF3-PBX1 fusions, high hyperdiploidy, near-haploidy, low hypodiploidy, MLL rearrangements, or intrachromosomal amplification of chromosome 21) with intragenic amplifications of PAX5 (PAX5AMP).

Druh

O - Ostatní výsledky

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

<a href="/cs/project/NV15-30626A" target="_blank" >NV15-30626A: Extensivní genomické profilování pro personalisovanou diagnostiku a léčbu poruch krvetvorby u dětí</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů