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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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