PMID- 29153092
OWN - NLM
STAT- MEDLINE
DCOM- 20171128
LR  - 20171128
IS  - 2210-7762 (Print)
VI  - 218-219
DP  - 2017 Dec
TI  - Is intrachromosomal amplification of chromosome 21 (iAMP21) always 
      intrachromosomal?
PG  - 10-14
LID - S2210-7762(17)30293-4 [pii]
LID - 10.1016/j.cancergen.2017.08.005 [doi]
AB  - Recurrent chromosomal abnormalities in childhood B-cell acute lymphoblastic 
      leukemia (B-ALL) provide prognostic information that is useful in determining 
      treatment stratification. iAMP21 is a more recently recognized cytogenetic entity 
      of B-ALL that was originally described as multiple copies of the RUNX1 gene on a 
      structurally abnormal chromosome 21. Subsequent studies elucidated a common 
      region of highest-level amplification that includes RUNX1. Fluorescence in situ 
      hybridization (FISH) is the most common method used to identify iAMP21, which is 
      defined as the presence of five or more total copies of RUNX1, with three or more 
      extra RUNX1 signals on a single abnormal chromosome 21. More recently, 
      chromosomal microarray (CMA) and next generation sequencing have uncovered a 
      characteristic chromosome 21 copy number profile in cases of iAMP21. We present a 
      case of iAMP21 that does not fit the formal FISH definition. However, CMA 
      uncovered the characteristic chromosome 21 copy number profile that is seen in 
      iAMP21, demonstrating that CMA is helpful for the detection of this entity when 
      FISH results are ambiguous. Furthermore, CMA showed that the highest level of 
      amplification in this case did not include the RUNX1 gene, consistent with 
      current evidence that RUNX1 is not the primary target of amplification.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Tsuchiya, Karen D
AU  - Tsuchiya KD
AD  - Department of Laboratories, Seattle Children's Hospital, 4800 Sand Point Way NE, 
      OC.8.720, Seattle, WA 98105; Department of Laboratory Medicine, University of 
      Washington Medical Center, 1959 Pacific Street, Seattle, WA 98195. Electronic 
      address: karen.tsuchiya@seattlechildrens.org.
FAU - Davis, Billy
AU  - Davis B
AD  - Department of Laboratories, Seattle Children's Hospital, 4800 Sand Point Way NE, 
      OC.8.720, Seattle, WA 98105.
FAU - Gardner, Rebecca A
AU  - Gardner RA
AD  - Cancer and Blood Disorders Center, Seattle Children's Hospital, 4800 Sand Point 
      Way NE, MB.8.501, Seattle, WA 98105.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170831
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Female
MH  - *Gene Amplification
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology
MH  - Prognosis
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - FISH
OT  - RUNX1
OT  - acute lymphoblastic leukemia
OT  - chromosomal microarray
OT  - iAMP21
EDAT- 2017/11/21 06:00
MHDA- 2017/11/29 06:00
CRDT- 2017/11/21 06:00
PHST- 2017/07/02 00:00 [received]
PHST- 2017/08/20 00:00 [revised]
PHST- 2017/08/27 00:00 [accepted]
PHST- 2017/11/21 06:00 [entrez]
PHST- 2017/11/21 06:00 [pubmed]
PHST- 2017/11/29 06:00 [medline]
AID - S2210-7762(17)30293-4 [pii]
AID - 10.1016/j.cancergen.2017.08.005 [doi]
PST - ppublish
SO  - Cancer Genet. 2017 Dec;218-219:10-14. doi: 10.1016/j.cancergen.2017.08.005. Epub 
      2017 Aug 31.