Clonal hierarchy of main molecular lesions in acute myeloid leukaemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F20%3A00115741" target="_blank" >RIV/00216224:14110/20:00115741 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/20:00072323
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16341" target="_blank" >https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.16341</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjh.16341" target="_blank" >10.1111/bjh.16341</a>
Alternative languages
Result language
angličtina
Original language name
Clonal hierarchy of main molecular lesions in acute myeloid leukaemia
Original language description
Genetic mutations in acute myeloid leukaemia (AML) are assumed to occur in a sequential order; however, the predominant hierarchical roles of specific mutated genes have not been fully described. In this study, we aimed to determine the clonal involvement of the most frequent AML-associated mutations. Using a targeted sequencing panel for 18 genes, we traced changes and relative clonal contribution of mutations in 52 patients. We analysed 35 pairs of diagnosis and relapse samples, 27 pairs of primary samples and corresponding patient-derived xenografts, and 34 pairs of total leukocytes and corresponding isolated primitive cells or blast populations. In both relapse and xenografts, we observed conservation of main leukaemic clones and variability was limited to subclones with late-acquired mutations. AML evolution thus mainly involved modification of subclones while the clonal background remained unchanged. NPM1 mutations were identified as the most probable leukaemia-transformation lesion, remaining conserved in contrast to high variation of accompanying subclonal FLT3 and NRAS mutations. DNMT3A mutations represented the most stable mutations forming a preleukaemic background in most samples. Mutations in genes IDH1/2, TET2, RUNX1, ASXL1 and U2AF1 were detected both as preleukaemic and as subclonal lesions, suggesting a non-specific order of acquisition.
Czech name
—
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
—
OECD FORD branch
30205 - Hematology
Result continuities
Project
<a href="/en/project/NV15-25809A" target="_blank" >NV15-25809A: National study of leukemia cell mutations and clonality in patients diagnosed with acute myeloid leukemia</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
British journal of haematology
ISSN
0007-1048
e-ISSN
1365-2141
Volume of the periodical
190
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
562-572
UT code for WoS article
000501700400001
EID of the result in the Scopus database
2-s2.0-85076350465