Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 10 Years After Presentation
Autor: | Saskia Krohn, Lisa-Madeleine Sklarz, Christoph Wittke, Hugo Murua Escobar, Hartmut Glaeser, Christina Große-Thie, Christian Junghanss |
---|---|
Rok vydání: | 2018 |
Předmět: |
Male
Cancer Research Antineoplastic Agents Proto-Oncogene Mas 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Leukemia Myelogenous Chronic BCR-ABL Positive hemic and lymphatic diseases medicine Humans In Situ Hybridization Fluorescence ABL business.industry Ponatinib Hematopoietic Stem Cell Transplantation breakpoint cluster region High-Throughput Nucleotide Sequencing Myeloid leukemia Imatinib General Medicine Middle Aged Dasatinib PTPN11 Oncology Nilotinib chemistry Drug Resistance Neoplasm Karyotyping 030220 oncology & carcinogenesis Mutation Cancer research Chromosome Deletion Blast Crisis business Chromosomes Human Pair 7 030215 immunology medicine.drug |
Zdroj: | Anticancer Research. 38:3961-3966 |
ISSN: | 1791-7530 0250-7005 |
Popis: | 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. |
Databáze: | OpenAIRE |
Externí odkaz: |