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AML1(RUNX1)/ETO(RUNXT1) t(8;21) by FISH

Test Code


Test Synonyms

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


Acute myelogenous leukemia, AML(M2)


Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA at 2-8°C stable for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue and FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

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.


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.

  1. Huret JL. (1997). t(8;21)(q22;q22). Atlas
  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