PMID- 20682391
OWN - NLM
STAT- MEDLINE
DCOM- 20100903
LR  - 20151119
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 201
IP  - 2
DP  - 2010 Sep
TI  - Cytogenetic and molecular characterization of double inversion 3 associated with 
      a cryptic BCR-ABL1 rearrangement and additional genetic changes.
PG  - 81-7
LID - 10.1016/j.cancergencyto.2010.05.014 [doi]
AB  - Rearrangements of chromosome 3 involving bands 3q21 and 3q26 have been reported 
      in about 2% of patients with acute myeloid leukemia, and rarely in 
      myelodysplastic syndrome or chronic myelogenous leukemia (CML). To date, only six 
      cases of inversion of both homologues have been reported. Loss of normal 
      chromosome 3 and duplication of the inverted chromosome have been proposed as the 
      most likely mechanism, but have not been shown experimentally. We present a 
      36-year-old male with an initial diagnosis of CML and resistance to imatinib 
      mesylate. Chromosome analysis showed an inversion within the long arm of both 
      homologues of chromosome 3 and an interstitial deletion within the long arm of 
      one chromosome 7. The rearrangement of EVI1 locus on both homologues of 
      chromosome 3 was confirmed by fluorescence in situ hybridization (FISH). 
      Additional FISH studies showed a cryptic insertion of ABL1 into the BCR region, 
      and subsequent duplication of the derivative chromosome 22. The single-nucleotide 
      polymorphism array showed copy-neutral loss of heterozygosity on chromosomes 3 
      and 22, suggesting that a somatic repair mechanism is involved in the evolution 
      of these genetic alterations. This case illustrates the complexity of genetic 
      aberrations in neoplastic cells, and the value of array technology, used in 
      concert with conventional cytogenetic methods, for a better understanding of the 
      pathogenesis.
CI  - 2010 Elsevier Inc. All rights reserved.
FAU - Toydemir, Reha
AU  - Toydemir R
AD  - Department of Pathology, University of Utah, Salt Lake City, 84112, USA.
FAU - Rowe, Leslie
AU  - Rowe L
FAU - Hibbard, Michele
AU  - Hibbard M
FAU - Salama, Mohamed
AU  - Salama M
FAU - Shetty, Shashirekha
AU  - Shetty S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Benzamides)
RN  - 0 (Piperazines)
RN  - 0 (Pyrimidines)
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Adult
MH  - Benzamides
MH  - Chromosome Aberrations
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 22
MH  - *Chromosomes, Human, Pair 3
MH  - Chromosomes, Human, Pair 9
MH  - Drug Resistance, Neoplasm
MH  - Fusion Proteins, bcr-abl/*genetics
MH  - Humans
MH  - Imatinib Mesylate
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics
MH  - Loss of Heterozygosity
MH  - Male
MH  - Piperazines/pharmacology
MH  - Polymorphism, Single Nucleotide
MH  - Pyrimidines/pharmacology
EDAT- 2010/08/05 06:00
MHDA- 2010/09/04 06:00
CRDT- 2010/08/05 06:00
PHST- 2010/01/05 00:00 [received]
PHST- 2010/05/19 00:00 [revised]
PHST- 2010/05/19 00:00 [accepted]
PHST- 2010/08/05 06:00 [entrez]
PHST- 2010/08/05 06:00 [pubmed]
PHST- 2010/09/04 06:00 [medline]
AID - S0165-4608(10)00229-3 [pii]
AID - 10.1016/j.cancergencyto.2010.05.014 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 Sep;201(2):81-7. doi: 
      10.1016/j.cancergencyto.2010.05.014.