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rdf:type
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Description
| - Myelodysplastic syndrome (MDS) refers to a group of clonal disorders originating from hematopoietic stem cells, and is characterized by ineff ective diff erentiation of hematopoietic progenitors, bone marrow dysplasia, genetic instability and, often, a propensity to develop acute myeloid leukemia (AML). Th e molecular pathogenesis of MDS and the main cause for its progression to AML remain largely undefi ned. Early mutations in stem cells may cause diff erentiation arrest, leading to dysplasia, whereas subsequent defects aff ecting myeloid cell proliferation may cause the clonal expansion of aberrant cells and frank AML [1]. Although many chromosomal abnormalities have been detected in MDS, the genes involved in the pathogenesis have yet to be identifi ed. According to a recently published new scoring system proposal, a total of fi ve prognostic subgroups were confi rmed, with 19 cytogenetic categories being defi ned [2]. With the exception of a complex karyotype, all detected chromosomal changes are single aberrations, mainly with gains or losses of large chromosomal regions containing hundreds of genes, thus making it diffi cult to locate the critically aff ected gene(s). Although chromosomal translocations are common genetic events in a complex karyotype in cases of MDS, a single aberration is considered a rare event in MDS [2,3]. Th us, the determination of a single translocation and the gene(s) involved could contribute to clarifying the primary changes and trigger mechanisms in MDS.
- Myelodysplastic syndrome (MDS) refers to a group of clonal disorders originating from hematopoietic stem cells, and is characterized by ineff ective diff erentiation of hematopoietic progenitors, bone marrow dysplasia, genetic instability and, often, a propensity to develop acute myeloid leukemia (AML). Th e molecular pathogenesis of MDS and the main cause for its progression to AML remain largely undefi ned. Early mutations in stem cells may cause diff erentiation arrest, leading to dysplasia, whereas subsequent defects aff ecting myeloid cell proliferation may cause the clonal expansion of aberrant cells and frank AML [1]. Although many chromosomal abnormalities have been detected in MDS, the genes involved in the pathogenesis have yet to be identifi ed. According to a recently published new scoring system proposal, a total of fi ve prognostic subgroups were confi rmed, with 19 cytogenetic categories being defi ned [2]. With the exception of a complex karyotype, all detected chromosomal changes are single aberrations, mainly with gains or losses of large chromosomal regions containing hundreds of genes, thus making it diffi cult to locate the critically aff ected gene(s). Although chromosomal translocations are common genetic events in a complex karyotype in cases of MDS, a single aberration is considered a rare event in MDS [2,3]. Th us, the determination of a single translocation and the gene(s) involved could contribute to clarifying the primary changes and trigger mechanisms in MDS. (en)
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Title
| - Pathogenetic role of ETV6 fusion gene in leukemic transformation of myelodysplastic syndrome refractory anemia with excess blasts-1 with a new, rare translocation t(11;19)(q24.3;q13.12) and insertion ins(6;12)(p22.3p13)
- Pathogenetic role of ETV6 fusion gene in leukemic transformation of myelodysplastic syndrome refractory anemia with excess blasts-1 with a new, rare translocation t(11;19)(q24.3;q13.12) and insertion ins(6;12)(p22.3p13) (en)
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skos:prefLabel
| - Pathogenetic role of ETV6 fusion gene in leukemic transformation of myelodysplastic syndrome refractory anemia with excess blasts-1 with a new, rare translocation t(11;19)(q24.3;q13.12) and insertion ins(6;12)(p22.3p13)
- Pathogenetic role of ETV6 fusion gene in leukemic transformation of myelodysplastic syndrome refractory anemia with excess blasts-1 with a new, rare translocation t(11;19)(q24.3;q13.12) and insertion ins(6;12)(p22.3p13) (en)
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skos:notation
| - RIV/61989592:15110/14:33145790!RIV15-MSM-15110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/61989592:15110/14:33145790
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - peripheral blood; myelodyplastic syndrome (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Indrák, Karel
- Jarošová, Marie
- Rohoň, Peter
- Papajík, Tomáš
- Holzerová, Milena
- Mičková, Pavla
- Peková, S.
- Nedomová, R.
- Reptová, S.
- Živná, J.
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issn
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number of pages
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http://bibframe.org/vocab/doi
| - 10.3109/10428194.2013.814127
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http://localhost/t...ganizacniJednotka
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