Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F05%3A00001783" target="_blank" >RIV/61989592:15110/05:00001783 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report

Original language description

Chromosomal translocations involving the mixed lineage leukemia gene (MLL) located at 11q23 belong to common chromosomal abnormalities in both acute lymphoblastic (ALL) and acute myeloid leukemias (AML). It has been suggested that the mechanism of MLL leukemogenesis might be a result of a gain-of-function effect of the MLL fusion gene and simultaneous loss of function of one of the MLL alleles (haploinsufficiency). One of the reccurent translocations in AML-M5 involves chromosomal locus 10p12 and results in the MLL-AF10 fusion gene. Several mechanisms leading to MLL-AF10 fusion have been reported, and they have involved rearrangement of the 11q23 region. We present a detailed structural analysis of an AML case with an extra copy of the 5´part of MLL region and its insertion into the short arm of chromosome 10, resulting in an MLL-AF10 fusion without rearrangement of the MLL alleles on both chromosomes 11. Our observation supports a role for a simple MLL gain-of-function in leukemogenes

Czech name

Zakódované spojení MLL-AF10 vložením zdvojené části 5' MLL do 10p12 při akutní leukémii: případová studie

Czech description

Článek se zabývá případovou studií o zakódovaném spojení MLL-AF10 vložením zdvojené části 5' MLL do 10p12 při akutní leukémii.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/GA301%2F01%2F0489" target="_blank" >GA301/01/0489: The study of pathogenesis of acute leukemias (AL) with 11q23 chromosomal rearrangement</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2005

Confidentiality

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

Name of the periodical

Cancer Genetics and Cytogenetics

ISSN

0165-4608

e-ISSN

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Volume of the periodical

162

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

4

Pages from-to

179-182

UT code for WoS article

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EID of the result in the Scopus database

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