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

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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Článek se zabývá případovou studií o zakódovaném spojení MLL-AF10 vložením zdvojené části 5' MLL do 10p12 při akutní leukémii. (cs) 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 leukemogenesis. 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 leukemogenesis. (en)
Title	Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report (en) Zakódované spojení MLL-AF10 vložením zdvojené části 5' MLL do 10p12 při akutní leukémii: případová studie (cs)
skos:prefLabel	Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report Cryptic MLL-AF10 fusion caused by insertion of duplicated 5´part of MLL into 10p12 in acute leukemia: a case report (en) Zakódované spojení MLL-AF10 vložením zdvojené části 5' MLL do 10p12 při akutní leukémii: případová studie (cs)
skos:notation	RIV/61989592:15110/05:00001783!RIV06-GA0-15110___
http://linked.open.../vavai/riv/strany	179-182
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(GA301/01/0489)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2006
http://linked.open...aciTvurceVysledku	INDRÁK, Karel Mihál, Vladimír Jarošová, Marie DIVOKÝ, Vladimír Holzerová, Milena Horváthová, Monika
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	516576
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/05:00001783
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	acute leukemia (en)
http://linked.open.../riv/klicoveSlovo	acute leukemia
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[280AA4C75E66]
http://linked.open...i/riv/nazevZdroje	Cancer Genetics and Cytogenetics
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	The study of pathogenesis of acute leukemias (AL) with 11q23 chromosomal rearrangement
http://linked.open...UplatneniVysledku	2005
http://linked.open...v/svazekPeriodika	162
http://linked.open...iv/tvurceVysledku	Indrák, Karel Jarošová, Marie Mihál, Vladimír Divoká, Martina Holzerová, Milena Divoký, Vladimír Priwitzerová, Monika Lakomá, Ilona Takačová, Sylvia
issn	0165-4608
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	15110

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