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1.	Herlin, Morten Krogh, et al. (author) What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? : Analysis of the Mutational Landscape and Prognosis of the TARGET-AML Cohort 2021 In: Genes. - : MDPI. - 2073-4425. ; 12:6 Journal article (peer-reviewed)abstract Normal karyotype acute myeloid leukemia (NK-AML) constitutes 20-25% of pediatric AML and detailed molecular analysis is essential to unravel the genetic background of this group. Using publicly available sequencing data from the TARGET-AML initiative, we investigated the mutational landscape of NK-AML in comparison with abnormal karyotype AML (AK-AML). In 164 (97.6%) of 168 independent NK-AML samples, at least one somatic protein-coding mutation was identified using whole-genome or targeted capture sequencing. We identified a unique mutational landscape of NK-AML characterized by a higher prevalence of mutated CEBPA, FLT3, GATA2, NPM1, PTPN11, TET2, and WT1 and a lower prevalence of mutated KIT, KRAS, and NRAS compared with AK-AML. Mutated CEBPA often co-occurred with mutated GATA2, whereas mutated FLT3 co-occurred with mutated WT1 and NPM1. In multivariate regression analysis, we identified younger age, WBC count >= 50 x 10(9)/L, FLT3-internal tandem duplications, and mutated WT1 as independent predictors of adverse prognosis and mutated NPM1 and GATA2 as independent predictors of favorable prognosis in NK-AML. In conclusion, NK-AML in children is characterized by a unique mutational landscape which impacts the disease outcome.
2.	Ryland, Georgina L, et al. (author) Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions. 2023 In: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 141:7, s. 800-805 Journal article (peer-reviewed)
3.	Stratmann, Svea, 1989-, et al. (author) SUPPLEMENTARY MATERIAL: Transcriptomic analysis reveals pro-inflammatory signatures associated with acute myeloid leukemia progression 2021 Other publication

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Type of publication: journal article (2); other publication (1)

Type of content: peer-reviewed (2)

Author/Editor: Holmfeldt, Linda (3); Herlin, Morten Krogh (3); Yones, Sara A. (2); Cavelier, Lucia (1); Sundström, Christer (1); Höglund, Martin (1); show more...; Lehmann, Sören (1); Zeller, Bernward (1); Hasle, Henrik (1); Abrahamsson, Jonas (1); Palle, Josefine, 196 ... (1); Jahnukainen, Kirsi (1); Ma, Jing (1); Grimmond, Sean M. (1); Komorowski, Jan (1); Kjeldsen, Eigil (1); Tiong, Ing S. (1); Skaftason, Aron (1); Rubnitz, Jeffrey E (1); Haferlach, Claudia (1); Mayrhofer, Markus, 1 ... (1); Norgren, Nina (1); Sun, Jitong (1); Tamm, Katja Pokrovsk ... (1); Eriksson, Anna, 1977 ... (1); Klco, Jeffery M (1); Garbulowski, Mateusz (1); Ley, Timothy J. (1); Ries, Rhonda E (1); Meshinchi, Soheil (1); Ryland, Georgina L (1); Umeda, Masayuki (1); Khanlari, Mahsa (1); Kosasih, Hansen J (1); Ekert, Paul G (1); Goh, Hwee Ngee (1); Day, Ryan B (1); Ma, Xiaotu (1); Blombery, Piers (1); Stratmann, Svea, 198 ... (1); Munthe-Kaas, Monica ... (1); show less...

University: Uppsala University (3)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (3)

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