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Genetic basis of acute myeloid leukemia (AML): The most common molecular changes in patients with normal karyotype

Karolina Matiakowska-Bryk
Karolina Matiakowska-Bryk
, 
Alicja Bartoszewska-Kubiak
Alicja Bartoszewska-Kubiak
 e 
Olga Haus
Olga Haus
   | 09 ago 2022
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Article Category: Review
Pubblicato online: 09 ago 2022
Pagine: 339 - 344
Ricevuto: 04 nov 2021
Accettato: 28 mar 2022
DOI: https://doi.org/10.2478/ahem-2022-0034
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© 2022 Karolina Matiakowska-Bryk et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Fig. 1

“Two-hit model” according to Gilliland [5]
“Two-hit model” according to Gilliland [5]

The most common mutations in the NPM1 gene [15]

No Mutation type/name DNA sequences: wild-type (black) and mutated (red)
1. No mutation (wt) gatctct - g - gcagt - ggagg aagtctctttaagaaaatag
2. A gatctct - g TCTG gcagt - ggagg aagtctctttaagaaaatag
3. B gatctct - g CATG gcagt - ggagg aagtctctttaagaaaatag
4. C gatctct - g CGTG gcagt - ggagg aagtctctttaagaaaatag
5. D gatctct - g CCTG gcagt - ggagg aagtctctttaagaaaatag
6. E gatctct - g - gcagt CTCTTGCCC - aagtctctttaagaaaatag
7. F gatctct - g - gcagt CCCTGGAGA - aagtctctttaagaaaatag
8. G gatctct - g - gcagt GCTTCGCC - aagtctctttaagaaaatag
9. H gatctct - g - gcagt GTTTTTCAA - aagtctctttaagaaaatag
10. J gatctct - g - gcagt CTCTTTCTA - aagtctctttaagaaaatag
11. L gatctct CCCG g - gcagt - - aagtctctttaagaaaatag
12. K gatctct - g - gcagt CCCTTTCCA - aagtctctttaagaaaatag
13. M gatctct - g TAGC gcagt - ggagg aagtctctttaagaaaatag
14. N gatctct - g CCAC gcagt - ggagg TCTCTTTaagaaaatag

Risk stratification of AML according to ELN [7]

Risk category Genetic abnormality
Favorable

t(8;21)(q22;q22) RUNX1-RUNX1T1,

inv(16)(p13q22) or t(16;16)(p13;q22) CBFB-MYH11,

mutated NPM1 without FLT3-ITD or with low allelic ratio FLT3-ITD (VAF<0,5),

biallelic mutated CEBPA.
Intermediate

t(9;11)(p21;q23) MLLT3-KMT2A,

cytogenetic abnormalities not classified as favorable or adverse,

mutated NPM1 with high allelic ratio FLT3-ITD (VAF>0,5),

wild type NPM1 without FLT3-ITD or with low allelic ratio FLT3-ITD,
Adverse

t(6;9)(p23;q34) DEK-NUP214,

t(v;11q23.3); KMT2A rearranged,

t(9;22)(q34;q11) BCR-ABL1,

inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM rearranged,

−5 or del(5q); −7; −17 or del(17p),

complex or monosomal karyotype,

wild type NPM1 with high allelic ratio FLT3-ITD (VAF>0,5),

mutated RUNX1, TP53 or ASXL1.
eISSN:
1732-2693
Lingua:
Inglese
Frequenza di pubblicazione:
Volume Open
Argomenti della rivista:
Life Sciences, Molecular Biology, Microbiology and Virology, Medicine, Basic Medical Science, Immunology
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