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Analysis of rare driving events in pediatric acute myeloid leukemia

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00077894" target="_blank" >RIV/65269705:_____/23:00077894 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14110/23:00131006

  • Result on the web

    <a href="https://haematologica.org/article/view/haematol.2021.280250" target="_blank" >https://haematologica.org/article/view/haematol.2021.280250</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3324/haematol.2027.280250" target="_blank" >10.3324/haematol.2027.280250</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Analysis of rare driving events in pediatric acute myeloid leukemia

  • Original language description

    Elucidating genetic aberrations in pediatric acute myeloid leukemia (AML) provides insight in biology and may impact on risk-group stratification and clinical outcome. This study aimed to detect such aberrations in a selected series of samples without known (cyto)genetic aberration using molecular profiling. A cohort of 161 patients was selected from various study groups: DCOG, BFM, SJCRH, NOPHO and AEIOP. Samples were analyzed using RNA sequencing (n=152), whole exome (n=135) and/or whole genome sequencing (n=100). In 70 of 156 patients (45%), of whom RNA sequencing or whole genome sequencing was available, rearrangements were detected, 22 of which were novel; five involving ERG rearrangements and four NPM1 rearrangements. ERG rearrangements showed self-renewal capacity in vitro, and a distinct gene expression pattern. Gene set enrichment analysis of this cluster showed upregulation of gene sets derived from Ewing sarcoma, which was confirmed comparing gene expression profiles of AML and Ewing sarcoma. Furthermore, NPM1-rearranged cases showed cytoplasmic NPM1 localization and revealed HOXA/B gene overexpression, as described for NPM1 mutated cases. Single-gene mutations as identified in adult AML were rare. Patients had a median of 24 coding mutations (range, 7-159). Novel recurrent mutations were detected in UBTF (n=10), a regulator of RNA transcription. In 75% of patients an aberration with a prognostic impact could be detected. Therefore, we suggest these techniques need to become standard of care in diagnostics.

  • 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

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2023

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Haematologica

  • ISSN

    0390-6078

  • e-ISSN

    1592-8721

  • Volume of the periodical

    108

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    IT - ITALY

  • Number of pages

    13

  • Pages from-to

    48-60

  • UT code for WoS article

    001000812400004

  • EID of the result in the Scopus database

    2-s2.0-85145424430