Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR‐ABL1, a Swedish population‐based study

• DOI: 10.1002/gcc.22936
• Publication Date: 2021-01-15T08:35:38Z
• Authors: Christina Orsmark...; Niklas Landberg; Fryderyk Lorenz; Bertil Uggla; Martin Höglund; Sören Lehmann; Åsa Derolf; Stefan Deneberg; Petar Antunovic; Jörg Cammenga; Lars Möllgård; Lovisa Wennström; Henrik Lilljebjörn; Marianne Rissler; Thoas Fioretos; Vladimir Lj Lazar...
• Keywords: NPM1; RUNX1

Acute myeloid leukemia (AML) with t(9;22)(q34;q11), also known as AML BCR-ABL1, is a rare, provisional entity in the WHO 2016 classification and considered high-risk disease according to European LeukemiaNet 2017 risk stratification. We here present retrospective, population-based study of this from Swedish Leukemia Registry. By strict clinical inclusion criteria we aimed identify genetic markers further distinguishing t(9;22) separate entity. Twenty-five patients were identified next-generation sequencing using 54-gene panel was performed 21 cases. Interestingly, no mutations found NPM1, FLT3, or DNMT3A, three frequently mutated genes AML. Instead, RUNX1 most commonly gene, aberrations 38% cases compared around 10% de novo Additional involved RNA splicing (SRSF2, SF3B1) chromatin regulation (ASXL1, STAG2, BCOR, BCORL1). Less frequently, IDH2, NRAS, TET2, TP53. The mutational landscape exhibited similar pattern recently described chronic (CML) blast crisis (BC). Despite concomitant presence BCR-ABL1 our cohort, both features AML, RUNX1-mutated showed superior overall survival wildtype Our results suggest that molecular characteristics t(9;22)/BCR-ABL1 CML BC are do not support distinction two entities based on their underlying alterations.