PMID- 26186983
OWN - NLM
STAT- MEDLINE
DCOM- 20151026
LR  - 20150803
IS  - 2210-7762 (Print)
VI  - 208
IP  - 7-8
DP  - 2015 Jul-Aug
TI  - Cytogenetic, fluorescence in situ hybridization, and genomic array 
      characterization of chronic myeloid leukemia with cryptic BCR-ABL1 fusions.
PG  - 396-403
LID - S2210-7762(15)00062-9 [pii]
LID - 10.1016/j.cancergen.2015.04.006 [doi]
AB  - Chronic myeloid leukemia (CML) is characterized by the breakpoint cluster region 
      (BCR)-Abelson murine leukemia (ABL1) fusion gene. In approximately 1% of CML 
      cases, the Philadelphia chromosome associated with the BCR-ABL1 fusion gene is 
      not present, and the BCR-ABL1 fusion gene is generated by cryptic insertion or 
      sequential translocations. In this study, we describe the cytogenetic and 
      molecular features of five CML patients with cryptic BCR-ABL1 fusion genes using 
      karyotype, fluorescence in situ hybridization (FISH), and whole genome single 
      nucleotide polymorphism array techniques. Two cases of CML in the chronic phase 
      (CP) had a normal karyotype, and three cases of CML in the blast phase (BP) had 
      an abnormal karyotype with neither a typical nor variant t(9;22). By BCR-ABL1 
      metaphase FISH analysis, we found that fusion signals were localized on 
      chromosomes 9 (3 cases), 22 (1 case), and both 9 and 22 (1 case). In two cases of 
      CML-BP, duplication of the BCR-ABL1 fusion gene occurred as a result of mitotic 
      recombination between homologous chromosomes. Copy number losses involving the 
      IKZF1 gene were observed in two patients with CML-BP. This study demonstrates for 
      the first time the acquisition of additional BCR-ABL1 fusion genes through 
      mitotic recombination in CML with cryptic BCR-ABL1.
CI  - Copyright (c) 2015 Elsevier Inc. All rights reserved.
FAU - Shao, Lina
AU  - Shao L
AD  - Clinical Cytogenetics Laboratory, Department of Pathology, University of 
      Michigan, Ann Arbor, MI, USA. Electronic address: linashao@med.umich.edu.
FAU - Miller, Sue
AU  - Miller S
AD  - Clinical Cytogenetics Laboratory, Department of Pathology, University of 
      Michigan, Ann Arbor, MI, USA.
FAU - Keller-Ramey, Jennifer
AU  - Keller-Ramey J
AD  - Clinical Cytogenetics Laboratory, Department of Pathology, University of 
      Michigan, Ann Arbor, MI, USA.
FAU - Zhang, Yang
AU  - Zhang Y
AD  - Clinical Cytogenetics Laboratory, Department of Pathology, University of 
      Michigan, Ann Arbor, MI, USA.
FAU - Roulston, Diane
AU  - Roulston D
AD  - Clinical Cytogenetics Laboratory, Department of Pathology, University of 
      Michigan, Ann Arbor, MI, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20150425
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
RN  - EC 2.7.10.2 (Proto-Oncogene Proteins c-abl)
RN  - EC 2.7.11.1 (BCR protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins c-bcr)
SB  - IM
MH  - Blast Crisis/*genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - Cytogenetic Analysis
MH  - Fusion Proteins, bcr-abl/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotype
MH  - Leukemia, Myeloid, Chronic-Phase/*genetics
MH  - Models, Genetic
MH  - Polymorphism, Single Nucleotide
MH  - Proto-Oncogene Proteins c-abl/genetics
MH  - Proto-Oncogene Proteins c-bcr/genetics
MH  - Retrospective Studies
MH  - Reverse Transcriptase Polymerase Chain Reaction
OTO - NOTNLM
OT  - Chronic myeloid leukemia
OT  - cryptic BCR-ABL1
OT  - single nucleotide polymorphism array
EDAT- 2015/07/19 06:00
MHDA- 2015/10/27 06:00
CRDT- 2015/07/19 06:00
PHST- 2014/11/26 00:00 [received]
PHST- 2015/04/03 00:00 [revised]
PHST- 2015/04/06 00:00 [accepted]
PHST- 2015/07/19 06:00 [entrez]
PHST- 2015/07/19 06:00 [pubmed]
PHST- 2015/10/27 06:00 [medline]
AID - S2210-7762(15)00062-9 [pii]
AID - 10.1016/j.cancergen.2015.04.006 [doi]
PST - ppublish
SO  - Cancer Genet. 2015 Jul-Aug;208(7-8):396-403. doi: 
      10.1016/j.cancergen.2015.04.006. Epub 2015 Apr 25.