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Novel class of ZNF384 aberrations in acute leukemia

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10432238" target="_blank" >RIV/00216208:11130/21:10432238 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064203:_____/21:10432238

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=iQ6Os7y4Lg" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=iQ6Os7y4Lg</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1182/bloodadvances.2021005318" target="_blank" >10.1182/bloodadvances.2021005318</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Novel class of ZNF384 aberrations in acute leukemia

  • Original language description

    Fusion of the ZNF384 gene as the 3&apos; partner to several different 5&apos; partner genes occurs recurrently in B-cell precursor acute lymphoblastic and mixed phenotype B/myeloid leukemia. These canonical fusions (ZNF384r) contain the complete ZNF384 coding sequence and are associated with a specific gene expression signature. Cases with this signature, but without canonical ZNF384 fusions (ZNF384r-like cases), have been described previously. Though some have been shown to harbor ZNF362 fusions, the primary aberrations remain unknown in a major proportion. We studied three patients with the ZNF384r signature and unknown primary genetic background and identified a previously unknown class of genetic aberration affecting the last exon of ZNF384 and resulting in disruption of the C-terminal portion of the ZNF384 protein. Importantly, in two cases, the ZNF384 aberration - indel - was missed during the bioinformatic analysis but revealed by the manual, targeted reanalysis. Two cases with the novel aberrations had a mixed (B/myeloid) immunophenotype commonly associated with canonical ZNF384 fusions. In conclusion, we present leukemia cases with a novel class of ZNF384 aberrations that phenocopy leukemia with ZNF384r. Therefore, we show that part of the so-called ZNF384r-like cases represent the same genetic subtype as leukemia with canonical ZNF384 fusions.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30205 - Hematology

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

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

Others

  • Publication year

    2021

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Blood Advances

  • ISSN

    2473-9529

  • e-ISSN

  • Volume of the periodical

    5

  • Issue of the periodical within the volume

    21

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    5

  • Pages from-to

    4393-4397

  • UT code for WoS article

    000718993700007

  • EID of the result in the Scopus database

    2-s2.0-85118902448