AML Screen

Molecular Haematology

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Description

The pericentric inversion of chromosome 16 is closely associated with AML-M4Eobeing found in virtually all cases. It is also found in 10% M4 without eosinophilia. It is associated with a good prognosis. The molecular consequence of an inv(16) is a CBFB-MYH11gene fusion. Approximately 30% of cases are due to a t(16;16) which has the same molecular consequence as the inversion.This fusion gene can be detected in cases of AML lacking inv(16) by classical cytogenetics. There are various different fusion forms (A,B,C,D,E,F,G,H) which are detectable by RT-PCR.The chromosomal translocation t(8;21) has been shown to be important in clinical practice and can identify a subgroup of AML with relatively good prognosis. It is found in approximately 20% of AML-M2, and responds well to treatment with cytosine arabinoside. It is suggested that patients with this translocation do not benefit from bone marrow transplantation.The molecular consequence of a t(8;21) is an AML-ETO gene fusion. This fusion gene can be detected in cases of AML lacking t(8;21) by classical cytogenetics. The breakpoints in t(8;21) are highly conserved, so can be detected by RT-PCR.

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Indications

Performed in cases suspected of having AML (for suspected APL see APL screen)

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Sample Type

5ml EDTA blood or bone marrow, less than 48 hrs old�

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Turnaround Time

Within 4 weeks

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Testing Frequency

As required�

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External Notes

Level of detection inv(16) 1:103, t(8;21) 1:105. Leukaemic : normal cells

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.