PMID- 10432929
OWN - NLM
STAT- MEDLINE
DCOM- 19990818
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 112
IP  - 1
DP  - 1999 Jul 1
TI  - Fluorescence in situ hybridization analysis of masked (8;21)(q22;q22) 
      translocations.
PG  - 15-20
AB  - The translocation (8;21)(q22;q22) is associated with acute myeloblastic leukemia 
      (AML M2). The accurate detection of this chromosomal rearrangement is vital due 
      to its association with a favorable prognosis. Variant translocations exist; 
      these may be hidden within an unusual or complex karyotype. In such cases, it is 
      often difficult to confirm the presence of t(8;21)(q22;q22) by conventional 
      cytogenetic analysis alone. The molecular detection of the AML1/ETO fusion gene 
      is possible by reverse transcriptase polymerase chain reaction (RT-PCR) or 
      dual-color fluorescence in situ hybridization (FISH) using probes specific for 
      AML1 and ETO. Four cases of AML M2, with unusual or complex structural 
      chromosomal abnormalities, without cytogenetic evidence of the classical 
      t(8;21)(q22;q22), were studied by FISH. Two were AML1/ETO positive by RT-PCR, one 
      showed a rearrangement by AML1 by Southern analysis, and the fourth had 
      morphological features characteristic of t(8;21). The FISH results showed a 
      co-localization of one AML1 and one ETO signal in interphase and metaphase nuclei 
      in all four cases, demonstrating the presence of variant t(8;21)(q22;q22) 
      rearrangements. Therefore, FISH analysis with the AML1 and ETO probes is 
      extremely valuable, in cases of AML M2, because of its ability to reveal masked 
      t(8;21)(q22;q22) translocations and thus quickly confirm the diagnosis, allowing 
      patients to be assigned to the correct risk group in terms of treatment.
FAU - Harrison, C J
AU  - Harrison CJ
AD  - Laboratoire Central d'Hematologie et Cytogenetique, Hopital Necker-Enfants 
      Malades, Paris, France.
FAU - Radford-Weiss, I
AU  - Radford-Weiss I
FAU - Ross, F
AU  - Ross F
FAU - Rack, K
AU  - Rack K
FAU - le Guyader, G
AU  - le Guyader G
FAU - Vekemans, M
AU  - Vekemans M
FAU - Macintyre, E
AU  - Macintyre E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adult
MH  - Child
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/08/05 00:00
MHDA- 1999/08/05 00:01
CRDT- 1999/08/05 00:00
PHST- 1999/08/05 00:00 [pubmed]
PHST- 1999/08/05 00:01 [medline]
PHST- 1999/08/05 00:00 [entrez]
AID - S0165460898002441 [pii]
AID - 10.1016/s0165-4608(98)00244-1 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1999 Jul 1;112(1):15-20. doi: 
      10.1016/s0165-4608(98)00244-1.