PMID- 22982005
OWN - NLM
STAT- MEDLINE
DCOM- 20130110
LR  - 20161125
IS  - 2210-7762 (Print)
VI  - 205
IP  - 10
DP  - 2012 Oct
TI  - Microarray, gene sequencing, and reverse transcriptase-polymerase chain reaction 
      analyses of a cryptic PML-RARA translocation.
PG  - 537-40
LID - S2210-7762(12)00221-9 [pii]
LID - 10.1016/j.cancergen.2012.07.017 [doi]
AB  - Acute promyelocytic leukemia (APL) is a well-defined subtype of acute myeloid 
      leukemia (AML) specifically characterized by the t(15;17)(q22;q12) translocation. 
      The t(15;17) results in the fusion of the promyelocytic leukemia (PML) and 
      retinoic acid receptor alpha (RARA) genes. Rare cryptic fusions often associated 
      with small genomic insertions can best be detected by reverse 
      transcriptase-polymerase chain reaction (RT-PCR) although conventional 
      chromosomal studies or even fluorescence in situ hybridization (FISH) analyses 
      appear normal. We report here an APL clone with a cryptic PML-RARA fusion that 
      returned negative results by both karyotyping and fluorescence in situ 
      hybridization (FISH), but returned positive results by RT-PCR analysis. A single 
      nucleotide polymorphism (SNP) microarray analysis was used in this case to help 
      resolve the discordance, revealing a 49-kilobase intragenic PML gene duplication. 
      A dual color dual fusion PML-RARA FISH probe set identified a small, extra PML 
      signal in a chromosome other than 15 or 17. Although coinsertion of a RARA 
      sequence could be detected by neither FISH nor array, the RT-PCR positivity is 
      consistent with this fusion "ectopic" to the natural gene loci. The findings 
      highlight the clinical utility of microarray in cases of cryptic PML-RARA fusion.
CI  - Published by Elsevier Inc.
FAU - Koshy, Jason
AU  - Koshy J
AD  - Department of Pathology, University of Texas Medical Branch at Galveston, 
      Galveston, TX, USA.
FAU - Qian, You-Wen
AU  - Qian YW
FAU - Bhagwath, Gayathri
AU  - Bhagwath G
FAU - Willis, Maurice
AU  - Willis M
FAU - Kelley, Todd W
AU  - Kelley TW
FAU - Papenhausen, Peter
AU  - Papenhausen P
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120913
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Nuclear Proteins)
RN  - 0 (Promyelocytic Leukemia Protein)
RN  - 0 (RARA protein, human)
RN  - 0 (Receptors, Retinoic Acid)
RN  - 0 (Retinoic Acid Receptor alpha)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 143220-95-5 (PML protein, human)
SB  - IM
MH  - Adult
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 15
MH  - Chromosomes, Human, Pair 17
MH  - Gene Dosage
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Loss of Heterozygosity
MH  - Male
MH  - Nuclear Proteins/*genetics
MH  - *Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
MH  - Promyelocytic Leukemia Protein
MH  - RNA Splicing
MH  - Receptors, Retinoic Acid/*genetics
MH  - Retinoic Acid Receptor alpha
MH  - Reverse Transcriptase Polymerase Chain Reaction/*methods
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics
MH  - *Translocation, Genetic
MH  - Tumor Suppressor Proteins/*genetics
EDAT- 2012/09/18 06:00
MHDA- 2013/01/11 06:00
CRDT- 2012/09/18 06:00
PHST- 2012/05/01 00:00 [received]
PHST- 2012/07/06 00:00 [revised]
PHST- 2012/07/31 00:00 [accepted]
PHST- 2012/09/18 06:00 [entrez]
PHST- 2012/09/18 06:00 [pubmed]
PHST- 2013/01/11 06:00 [medline]
AID - S2210-7762(12)00221-9 [pii]
AID - 10.1016/j.cancergen.2012.07.017 [doi]
PST - ppublish
SO  - Cancer Genet. 2012 Oct;205(10):537-40. doi: 10.1016/j.cancergen.2012.07.017. Epub 
      2012 Sep 13.