PMID- 29970518
OWN - NLM
STAT- MEDLINE
DCOM- 20180731
LR  - 20211204
IS  - 1791-7530 (Electronic)
IS  - 0250-7005 (Linking)
VI  - 38
IP  - 7
DP  - 2018 Jul
TI  - Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 
      10 Years After Presentation.
PG  - 3961-3966
LID - 10.21873/anticanres.12682 [doi]
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.
CI  - Copyright(c) 2018, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Sklarz, Lisa-Madeleine
AU  - Sklarz LM
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany.
FAU - Wittke, Christoph
AU  - Wittke C
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany.
FAU - Krohn, Saskia
AU  - Krohn S
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany.
FAU - GROssE-Thie, Christina
AU  - GROssE-Thie C
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany.
FAU - Junghanss, Christian
AU  - Junghanss C
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany.
FAU - Murua Escobar, Hugo
AU  - Murua Escobar H
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany 
      hugo.murua.escobar@med.uni-rostock.de hartmut.glaeser@med.uni-rostock.de.
FAU - Glaeser, Hartmut
AU  - Glaeser H
AD  - Department of Medicine, Clinic III - Hematology/Oncology/Palliative Medicine, 
      Rostock University Medical Center, Rostock, Germany 
      hugo.murua.escobar@med.uni-rostock.de hartmut.glaeser@med.uni-rostock.de.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Greece
TA  - Anticancer Res
JT  - Anticancer research
JID - 8102988
RN  - 0 (Antineoplastic Agents)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
SB  - IM
MH  - Antineoplastic Agents/therapeutic use
MH  - Blast Crisis/drug therapy/*genetics/*pathology
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Drug Resistance, Neoplasm
MH  - Hematopoietic Stem Cell Transplantation
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug 
      therapy/*genetics/*pathology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Proto-Oncogene Mas
OTO - NOTNLM
OT  - Next-generation sequencing
OT  - allogenic stem cell transplantation
OT  - blast crisis
OT  - clonal development FISH
OT  - cytogenetic and molecular aberrations
EDAT- 2018/07/05 06:00
MHDA- 2018/08/01 06:00
CRDT- 2018/07/05 06:00
PHST- 2018/04/16 00:00 [received]
PHST- 2018/05/28 00:00 [revised]
PHST- 2018/05/30 00:00 [accepted]
PHST- 2018/07/05 06:00 [entrez]
PHST- 2018/07/05 06:00 [pubmed]
PHST- 2018/08/01 06:00 [medline]
AID - 38/7/3961 [pii]
AID - 10.21873/anticanres.12682 [doi]
PST - ppublish
SO  - Anticancer Res. 2018 Jul;38(7):3961-3966. doi: 10.21873/anticanres.12682.