TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A6967" target="_blank" >RIV/00064203:_____/11:6967 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/11:6967
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21157892" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21157892</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases
Original language description
Background. The TEL/AML1 fusion gene which represents the most frequent genetic abnormality in childhood ALL, usually results from genomic breakpoints in TEL intron 5 and AML1 intron 1 or 2. At the protein level, the helix loop helix domain and exon 5-coded central region of TEL are typically fused to almost entire AML1 including DNA-binding domain. Procedure. We identified two ALL patients with genomic breakpoints within TEL intron 4 resulting in variant TEL/AML1 fusion lacking the TEL exon 5-coded central region. This region was supposed to play an important role in TEL/AML1 function, particularly in TEL/AML1-mediated transcriptional repression of AML1 targets. We aimed at investigating the impact of the loss of this region on disease behavior and TEL/AML1 function. We compared clinical and biological characteristics, treatment response, and outcome of the variant versus classical TEL/AML1 cases, analyzed genome wide gene expression profiles and performed reporter gene assay. Results
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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