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Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci
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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.
Author(s): Harrison CJ, Radford-Weiss I, Ross F, Rack K, Guyader Gle, Vekemans M, Macintyre E
Publication type: Article
Publication status: Published
Journal: Cancer Genetics and Cytogenetics
Year: 1999
Volume: 112
Issue: 1
Pages: 15-20
Print publication date: 01/07/1999
ISSN (print): 0165-4608
ISSN (electronic): 1873-4456
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/S0165-4608(98)00244-1
DOI: 10.1016/S0165-4608(98)00244-1
Notes: Journal Article Research Support, Non-U.S. Gov't United states
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