Fish Analysis, AML1/ETO Translocation

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Pseudonyms: t(8;21); 8;21 Translocation; RUNX1-RUNX1T1 Translocation; RUNX1-RUNX1T1 Fusion; AML1-ETO Translocation; AML1/ETO Fusion; Acute Myeloid Leukemia; AML

TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
  • Collect: 2 mL bone marrow aspirate in sodium heparin (green); 5 mL peripheral blood in sodium heparin (green) also acceptable
  • Minimum Collection: 1 mL bone marrow or 2 mL peripheral blood
  • Transport: bone marrow or peripheral blood in sodium heparin (green) at 20-25°C ; specimen should arrive in the laboratory within 24 hours of collection.
  • Stability: Ambient: 24 hours; Refrigerated: 24 hours; Frozen: unacceptable
  • Unacceptable Conditions: Frozen or clotted specimens; paraffin-embedded specimens; specimens in anticoagulants other than sodium heparin.
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
Test Summary: Test can detect the 8;21 translocation characteristic of AML generally showing maturation in the neutrophil lineage; for diagnostic specimens, it is recommended that the test be performed with chromosome analysis.
Methods: A dual-color, dual-fusion FISH analysis performed on interphase cells using a probe for the AML1 (RUNX1) gene on chromosome 21q22 and a probe for the ETO (RUNX1T1) gene on chromosome 8q22; analysis of 200 interphase cells for diagnostic specimen; analysis of 500 interphase cells for minimal residual disease assessment
Interpretation: A positive result (AML1-ETO fusion) is reported when the percent of cells with an abnormality exceeds the normal reference range for the probes. The detection of an abnormal clone indicates a diagnosis of AML with the 8;21 translocation. A negative result indicates no 8;21translocation was observed but does not rule out the presence of a neoplastic disorder.
FDA Approval: This test is not approved by the FDA and it should used as an adjunct to other clinical and pathological information.
Indications for Use:
  • Identifying patients with AML with the 8;21 translocation (AML1/ETO fusion)
  • Monitoring the 8;21 translocation (AML1/ETO) during treatment
  • Detecting residual disease in patients with AML and the 8;21 translocation