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Cytogenetically cryptic AML1 - ETO and CBFβ - MYH11 gene rearrangements: Incidence in 412 cases of acute myeloid leukaemia

Lookup NU author(s): Simon Cotterill, Dr Nicholas Bown


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The rearrangements t(8;21)(q22;22) and inv(16)(p13q22) are two of the most frequently seen in acute myeloid leukaemia (AML), accounting for 8% and 4% of cases respectively. Detection of these abnormalities is important for disease management as both are associated with good responses to conventional chemotherapy and prolonged disease-free survival. Recent reports using reverse transcriptase polymerase chain reaction (RT-PCR) suggest that significant proportions of AML cases without a visible t(8;21) or inv(16) show expression of an abnormal fusion gene transcript and, consequently, they could not be detected using conventional cytogenetic analysis alone. We present here a four centre study involving 412 cases of AML screened using both standard cytogenetics and RT-PCR for AML1 - ETO and CBFβ - MYH11. We detected a cytogenetic t(8;21) in 31 out of 412 (7.5%) cases and an inv(16) or t(16;16) variant in 27 out of 412 (6.6%) cases. RT-PCR detected only two cases (0.5%) of cryptic t(8;21) and no instances of cryptic inv(16). Both cryptic t(8;21) cases had the classic M2 FAB morphology for this type of disease. Our data concur with the established FAB type distribution of the rearrangements and indicate that cryptic t(8;21) and inv(16) may be much less frequent than reported elsewhere.

Publication metadata

Author(s): Bown NP; Cotterill SJ; Rowe D; Vandenberghe EA; Wilson G; Watmore AE; Ross FM; Bunyan DJ; Vickers SJ; Bryon J; McMullan DJ; Griffiths MJ; Reilly JT

Publication type: Article

Publication status: Published

Journal: British Journal of Haematology

Year: 2000

Volume: 111

Issue: 4

Pages: 1051-1056

ISSN (print): 0007-1048

ISSN (electronic): 1365-2141

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1111/j.1365-2141.2000.02474.x

PubMed id: 11167739


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