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


Test Name

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

Test Code

F AML ETO

Synonyms

AML1/ETO t(8;21)(q22;q22); RUNX1T1/RUNX1

Associations

Acute myelogenous leukemia, AML(M2)

CPT Codes

88374

Turnaround Time

5

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

Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C

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 Rejections

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

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 metapha

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

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