PMID- 25800664
OWN - NLM
STAT- MEDLINE
DCOM- 20150717
LR  - 20161125
IS  - 2210-7762 (Print)
VI  - 208
IP  - 3
DP  - 2015 Mar
TI  - MYC amplification in multiple marker chromosomes and EZH2 microdeletion in a man 
      with acute myeloid leukemia.
PG  - 96-100
LID - S2210-7762(15)00011-3 [pii]
LID - 10.1016/j.cancergen.2015.01.010 [doi]
AB  - The role of MYC and EZH2 in acute myeloid leukemia (AML) pathogenesis is poorly 
      understood. Herein we present a case of AML with MYC amplification in marker 
      chromosomes and a microdeletion of chromosome 7 below cytogenetic resolution. The 
      karyotype of the patient's bone marrow aspirate showed three to five marker 
      chromosomes in all dividing cells without other structural or numerical 
      chromosomal abnormalities. Analysis by fluorescence in situ hybridization (FISH) 
      with a probe specific for the human MYC gene revealed amplification of the 
      oncogene localized to the marker chromosomes. Using whole genome single 
      nucleotide polymorphism (SNP) microarray analysis, an approximately 4.4 Mb 
      amplicon containing the MYC gene was identified with an estimated amplification 
      of about 30 copies per leukemic cell and, thus, an average of about 8 copies per 
      marker chromosome. A 6.4 Mb hemizygous microdeletion of chromosome 7 within band 
      q36.1 was also found by SNP microarray analysis in a cellular-equivalent dosage 
      of 50%. The microdeletion spans multiple genes, including EZH2, a gene with 
      well-known cancer association. No mutation was found in the remaining EZH2 allele 
      by next generation gene sequencing. The combination of MYC amplification and EZH2 
      deletion, which has not been described previously in AML, may suggest a 
      synergistic role of the two oncogenes in the pathogenesis of the patient's acute 
      leukemia.
CI  - Published by Elsevier Inc.
FAU - Xiang, Zhifu
AU  - Xiang Z
AD  - Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, 
      University of Arkansas for Medical Sciences, Little Rock, AR, USA; Division of 
      Hematology and Oncology, Central Arkansas Veterans Healthcare System, Little 
      Rock, AR, USA. Electronic address: zxiang@uams.edu.
FAU - Abdallah, Al-Ola
AU  - Abdallah AO
AD  - Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, 
      University of Arkansas for Medical Sciences, Little Rock, AR, USA.
FAU - Govindarajan, Rangaswamy
AU  - Govindarajan R
AD  - Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, 
      University of Arkansas for Medical Sciences, Little Rock, AR, USA; Division of 
      Hematology and Oncology, Central Arkansas Veterans Healthcare System, Little 
      Rock, AR, USA.
FAU - Mehta, Paulette
AU  - Mehta P
AD  - Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, 
      University of Arkansas for Medical Sciences, Little Rock, AR, USA; Division of 
      Hematology and Oncology, Central Arkansas Veterans Healthcare System, Little 
      Rock, AR, USA.
FAU - Emanuel, Peter D
AU  - Emanuel PD
AD  - Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, 
      University of Arkansas for Medical Sciences, Little Rock, AR, USA.
FAU - Papenhausen, Peter
AU  - Papenhausen P
AD  - Division of Cytogenetics, LabCorp, Center for Molecular Biology and Pathology, 
      Research Triangle Park, NC, USA.
FAU - Schichman, Steven A
AU  - Schichman SA
AD  - Department of Pathology, University of Arkansas for Medical Sciences, Little 
      Rock, AR, USA; Pathology and Laboratory Medicine Service, Central Arkansas 
      Veterans Healthcare System, Little Rock, AR, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20150207
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - EC 2.1.1.43 (EZH2 protein, human)
RN  - EC 2.1.1.43 (Enhancer of Zeste Homolog 2 Protein)
RN  - EC 2.1.1.43 (Polycomb Repressive Complex 2)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Enhancer of Zeste Homolog 2 Protein
MH  - *Gene Amplification
MH  - *Gene Deletion
MH  - *Genes, myc
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/etiology/*genetics
MH  - Male
MH  - Polycomb Repressive Complex 2/*genetics
MH  - Polymorphism, Single Nucleotide
OTO - NOTNLM
OT  - Acute myeloid leukemia
OT  - EZH2
OT  - Genetic abnormality
OT  - MYC
OT  - Marker chromosomes
EDAT- 2015/03/25 06:00
MHDA- 2015/07/18 06:00
CRDT- 2015/03/25 06:00
PHST- 2014/07/25 00:00 [received]
PHST- 2015/01/28 00:00 [revised]
PHST- 2015/01/30 00:00 [accepted]
PHST- 2015/03/25 06:00 [entrez]
PHST- 2015/03/25 06:00 [pubmed]
PHST- 2015/07/18 06:00 [medline]
AID - S2210-7762(15)00011-3 [pii]
AID - 10.1016/j.cancergen.2015.01.010 [doi]
PST - ppublish
SO  - Cancer Genet. 2015 Mar;208(3):96-100. doi: 10.1016/j.cancergen.2015.01.010. Epub 
      2015 Feb 7.