PMID- 17342318
OWN - NLM
STAT- MEDLINE
DCOM- 20070607
LR  - 20191210
IS  - 1021-335X (Print)
IS  - 1021-335X (Linking)
VI  - 17
IP  - 4
DP  - 2007 Apr
TI  - Diagnostic utility of dual fusion PML/RARalpha translocation DNA probe (D-FISH) 
      in acute promyelocytic leukemia.
PG  - 799-805
AB  - Translocation(15;17) leading to the formation of fusion gene PML/RARalpha is the 
      diagnostic hallmark of acute promyelocytic leukemia (APL). Interphase 
      fluorescence in situ hybridization (FISH) is one of the diagnostic tools employed 
      for the detection of PML/RARalpha rearrangement. Using a dual color dual fusion 
      (D-FISH) PML/RARalpha translocation DNA probe which hybridises both to 
      PML/RARalpha and RARalpha/PML fusion genes, we characterised the FISH pattern of 
      52 APL patients at diagnosis and correlated the findings with conventional 
      cytogenetics and RT-PCR analysis. The diagnostic sensitivity of the probe for 
      PML/RARalpha was 100%. Seven patients had atypical D-FISH patterns; two had a 
      masked PML/RARalpha fusion signal caused by the insertion of PML into RARalpha on 
      17q; 3 had an extra copy of PML/RARalpha in the form of isochromosome 
      der(17)(q10)t(15;17) and one had duplication of the normal RARalpha gene with an 
      ider(17q) masquerading as i(17)(q10). There was also one case of t(7;17;15) with 
      a typical D-FISH pattern and in which metaphase FISH suggested an unusual 4-point 
      break. In summary, PML/RARalpha D-FISH is a highly sensitive method for 
      confirming diagnosis of APL. However D-FISH cannot be solely relied on for the 
      diagnosis of APL owing to atypical patterns which are infrequently observed in 
      cases with additional 17q structural abnormalities, gene insertion and gene 
      duplication.
FAU - Wan, Thomas S K
AU  - Wan TS
AD  - Hematology Division, Department of Pathology, The University of Hong Kong, Queen 
      Mary Hospital, Hong Kong, P.R. China. wantsk@hkucc.hku.hk
FAU - So, Chi-Chiu
AU  - So CC
FAU - Hui, Koon-Chun
AU  - Hui KC
FAU - Yip, Sze-Fai
AU  - Yip SF
FAU - Ma, Edmond S K
AU  - Ma ES
FAU - Chan, Li-Chong
AU  - Chan LC
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - Greece
TA  - Oncol Rep
JT  - Oncology reports
JID - 9422756
RN  - 0 (DNA Probes)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - DNA Probes/chemistry
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Leukemia, Promyelocytic, Acute/*diagnosis
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Sensitivity and Specificity
MH  - Translocation, Genetic
EDAT- 2007/03/08 09:00
MHDA- 2007/06/08 09:00
CRDT- 2007/03/08 09:00
PHST- 2007/03/08 09:00 [pubmed]
PHST- 2007/06/08 09:00 [medline]
PHST- 2007/03/08 09:00 [entrez]
PST - ppublish
SO  - Oncol Rep. 2007 Apr;17(4):799-805.