{"entity": "publication", "iuid": "cae803c5e3bb474db086999bd9bef0b9", "timestamp": "2026-08-28T00:26:27.709Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/cae803c5e3bb474db086999bd9bef0b9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/cae803c5e3bb474db086999bd9bef0b9"}}, "title": "What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? Analysis of the Mutational Landscape and Prognosis of the TARGET-AML Cohort.", "authors": [{"family": "Herlin", "given": "Morten Krogh", "initials": "MK", "orcid": "0000-0001-7179-4643", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0d267c8019a941919afcad35c891fa55.json"}}, {"family": "Yones", "given": "Sara A", "initials": "SA"}, {"family": "Kjeldsen", "given": "Eigil", "initials": "E"}, {"family": "Holmfeldt", "given": "Linda", "initials": "L", "orcid": "0000-0003-4140-3423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/13a857b0c5b64d10a8e3b6b70d4dc662.json"}}, {"family": "Hasle", "given": "Henrik", "initials": "H"}], "type": "journal article", "published": "2021-05-21", "journal": {"title": "Genes (Basel)", "issn": "2073-4425", "volume": "12", "issue": "6", "issn-l": "2073-4425"}, "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 \u226550 \u00d7 109/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.", "doi": "10.3390/genes12060792", "pmid": "34064268", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8224370"}, {"db": "pii", "key": "genes12060792"}], "notes": [], "created": "2026-08-21T13:02:31.367Z", "modified": "2026-08-21T13:02:31.414Z"}