PT - JOURNAL ARTICLE AU - LISA-MADELEINE SKLARZ AU - CHRISTOPH WITTKE AU - SASKIA KROHN AU - CHRISTINA GROßE-THIE AU - CHRISTIAN JUNGHANSS AU - HUGO MURUA ESCOBAR AU - HARTMUT GLAESER TI - Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 10 Years After Presentation AID - 10.21873/anticanres.12682 DP - 2018 Jul 01 TA - Anticancer Research PG - 3961--3966 VI - 38 IP - 7 4099 - http://ar.iiarjournals.org/content/38/7/3961.short 4100 - http://ar.iiarjournals.org/content/38/7/3961.full SO - Anticancer Res2018 Jul 01; 38 AB - Since the introduction of tyrosine kinase inhibitors (TKI), the prospects for patients with chronic myeloid leukemia (CML) have improved significantly. Herein we present the case of a patient with CML who experienced blast crisis and development of acute myeloid leukemia (AML) 10 years after presentation. The CML was characterized by the gene fusion of breakpoint cluster region BCR and tyrosine-protein kinase ABL1. During treatment different therapeutic protocols including imatinib, nilotinib, dasatinib and ponatinib were applied due to development of resistance or non-response. Fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) were used to describe cytogenetic and molecular aberrations elucidating the development into AML: A loss of chromosome 7, as well as an arising frequency of variants in the gene met proto-oncogene MET (p.T110I) and tyrosine-protein phosphatase non-receptor type 11 PTPN11 (p.Q510L) was observed. This report describes the comprehensive characterization of a clinical case showing multiple therapeutic resistances correlated with genetic aberrations.