Test Directory

• AML1, 21q22.1
• ETO, 8q21.3

The t(8;21)(q22;q22.1) is found in 1-5% of acute myeloid leukemia (AML) cases. Runt-related transcription factor 1 (RUNX1)::adipogenesis-related transcription factor (RUNX1T1) is the predominant core binding factor (CBF) rearrangement in African American AML patients (~55-70% of CBF AML). The presence of KIT p.D816 in adults correlates with a lower relapse-free survival rate, while hyperdiploidy and/or presence of del(9q) is associated with longer overall survival. A high (≥2) mutation burden is associated with inferior outcomes. FISH can detect this abnormality in either interphase or metaphase cells.

Specimen Types: Leukemic Blood or Bone Marrow

Preferred Collection Container: Green Top (Sodium Heparin)

Alternate Collection Container: Lavendar Top (EDTA)

Desired Specimen Volume: 3 - 5 mL

Minimum Acceptable Volume: 1 mL

• Lithium heparin is not acceptable.
• Specimens must be collected in a sterile collection container.

Each specimen must be accompanied by a requisition form, script, electronic order or physician note. Each order must indicate the reason for testing (diagnosis).

• Transport to the laboratory at room temperature.
• Store specimen as whole blood, in original tube, at room temperature and deliver to lab within 24 hours.
• If specimen cannot be delivered within 24 hours, store in refrigerator. Do not freeze specimen.
• Specimens collected on the weekends must be refrigerated upon arrival at HNL Lab Medicine.

• Specimen frozen
• Specimen arriving without any form of patient identification (unlabeled)
• Specimen with attached needles
• Specimen arriving with broken or leaking collection tube
• Unfixed specimen treated with fixative

In a normal cell, the expected signal pattern is two red signals and two green signals. In an abnormal cell containing a typical translocation, the expected signal pattern is one red signal, one green signal, and two fused signals. In an abnormal cell with amplification of AML1 (RUNX1), the expected signal pattern is two green signals and >4 red signals.

• FISH Translocation AML1/ETO
• AML1/ETO
• RUNX1/RUNX1T1
• t(8;21)
• Runt-Related Transcription Factor 1/Adipogenesis-Related Transcription Factor