Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00064203:_____/17:10373651
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?
Original language description
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).
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
—
OECD FORD branch
30204 - Oncology
Result continuities
Project
<a href="/en/project/NV15-30626A" target="_blank" >NV15-30626A: High-throughput genomic profiling for personalised diagnostics and treatment of haematopoietic disorders in children</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů