PMID- 23911237
OWN - NLM
STAT- MEDLINE
DCOM- 20131028
LR  - 20220331
IS  - 2210-7762 (Print)
VI  - 206
IP  - 6
DP  - 2013 Jun
TI  - Chromothripsis under the microscope: a cytogenetic perspective of two cases of 
      AML with catastrophic chromosome rearrangement.
PG  - 238-51
LID - S2210-7762(13)00083-5 [pii]
LID - 10.1016/j.cancergen.2013.05.021 [doi]
AB  - Chromothripsis is a recently described phenomenon identified in cancer cells that 
      produces catastrophic chromosome reorganization of one or a small number of 
      chromosomes. It has been proposed that the multiple breakage events occur at a 
      single point in time. Here we introduce the term anachromosome to describe an 
      abnormal chromosome produced by chromothripsis. We report two cases of acute 
      myeloid leukemia matching the description of chromothripsis that illustrate 
      different aspects of this phenomenon from a cytogenetic perspective. Fluorescence 
      in situ hybridization (FISH) analyses, including multicolor FISH and FISH for 
      repeat elements that are not present on microarrays and that are resistant to 
      sequencing, helped interpret the rearrangements but did not reveal their level of 
      complexity. The anachromosomes conformed to the normal constraints of chromosome 
      structure by including segments that provide two telomeres and a centromere. In 
      patient samples, there are mixtures of cells with and without deletions. The 
      deletion B allele frequencies for heterozygous loci in a mixture of cells with 
      and without the deletions create a distinctive array pattern that is consistent 
      with all the deletions in the anachromosomes having occurred concurrently. This 
      evidence supporting the single-event hypothesis for chromothripsis has not 
      previously been highlighted, to our knowledge. In the context of exploring 
      mechanisms for chromosome shattering, we discuss a possible connection between 
      chromosome pulverization and fragile sites. Understanding chromothripsis in the 
      context of chromosome biology will help us identify its causes and consequences.
CI  - Copyright (c) 2013 Elsevier Inc. All rights reserved.
FAU - Mackinnon, Ruth N
AU  - Mackinnon RN
AD  - Victorian Cancer Cytogenetics Service, St Vincent's Hospital Melbourne, Fitzroy, 
      Australia. prukashtal@gmail.com
FAU - Campbell, Lynda J
AU  - Campbell LJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130802
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Adult
MH  - Aged, 80 and over
MH  - *Chromosome Aberrations
MH  - Cytogenetic Analysis
MH  - Female
MH  - Gene Deletion
MH  - *Gene Rearrangement
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Polymorphism, Single Nucleotide
OTO - NOTNLM
OT  - Chromothripsis
OT  - acute myeloid leukemia
OT  - anachromosome
OT  - centromere capture
OT  - fragile sites
EDAT- 2013/08/06 06:00
MHDA- 2013/10/29 06:00
CRDT- 2013/08/06 06:00
PHST- 2013/02/07 00:00 [received]
PHST- 2013/05/16 00:00 [revised]
PHST- 2013/05/28 00:00 [accepted]
PHST- 2013/08/06 06:00 [entrez]
PHST- 2013/08/06 06:00 [pubmed]
PHST- 2013/10/29 06:00 [medline]
AID - S2210-7762(13)00083-5 [pii]
AID - 10.1016/j.cancergen.2013.05.021 [doi]
PST - ppublish
SO  - Cancer Genet. 2013 Jun;206(6):238-51. doi: 10.1016/j.cancergen.2013.05.021. Epub 
      2013 Aug 2.