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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/11:6967

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2011

Kód důvěrnosti údajů

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

Název periodika

Pediatric Blood & Cancer

ISSN

1545-5009

e-ISSN

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Svazek periodika

56

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

217-225

Kód UT WoS článku

000286017500009

EID výsledku v databázi Scopus

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