Test Code

F AML ETO

Test Synonyms

AML1/ETO t(8;21)(q22;q22); RUNX1T1

Associations

Acute myelogenous leukemia, AML(M2)

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability

Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

FISH results indicate whether rearrangement is present or absent.
In a normal cell, two orange and two green signals will be detected. In a cell with the t(8;21), two fusion signals will be seen representing the two rearranged chromosomes along with one orange and one green signal.

Description

The t(8;21)(q22;q22) is found in 12% of all acute myeloid leukemia (AML) cases, including 40–50% of AML M2 subtype and a small portion of M0, M1 and M4 subtypes of the FAB classification.

FISH can detect this translocation in either interphase or metaphase cells.

References

1. Huret JL. (1997). t(8;21)(q22;q22). Atlas Cytogenetics.org
2. Gordon C et al. (2002). Leukemia. 16(9):1752.
3. Xaio Z et al. (2001). Molecular characterization of genomic AML1-ETO fusions in childhood leukemia. Leukemia. 15:1906.
4. Yan M, et al. (2004). Deletion of an AML1-ETO C-terminal Ncor/SMRT-interacing region strongly induces leukemia development. PNAS 101(49):17186.
5. Tonks A et al. (2004). Expression of AML1-ETO in human myelomonocytic cells selectively inhibits granulocytic differentiation and promotes their self-renewal. Leukemia. 18(7):1238