Case report: Exome sequencing identifies T-ALL with myeloid features as a IKZF1-struck early precursor T-cell malignancy

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Lineage origin of a minority of patients with acute leukemia can be difficult determine, although advances in sequencing provide approaches to this problem. We describe longitudinal follow-up of a young man diagnosed with T- cell ALL. In conjunction with allele frequency cluster analysis we determined that, contrary to initial beliefs, the disease did not involve a therapy-related secondary AML. Instead, a disease progression was unraveled involving early stem cell transcription factor IKZF1 aberration and tumor suppressor nonsense mutation in CDKN2A. Thus, we provide computational procedures to strengthen somatic observations, tumor detection and cytogenetics by assessment of allelic frequencies, elucidating disease evolution.
ArtikelnummerVolume 9
TidsskriftLeukemia Research Reports
Sider (fra-til)1-4
StatusUdgivet - 2018

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