Test Name:

AML1/ETO – Acute Myeloid Leukemia (AML-M2)
(t(8;21)(q22;q22) Translocation Detection)

Clinical Significance:

The AML1/ETO fusion gene, resulting from the t(8;21) translocation, is commonly associated with the AML-M2 subtype (Acute Myeloblastic Leukemia with maturation). It is a favorable-risk cytogenetic marker, often seen in:

• Younger AML patients

• De novo AML cases with good response to chemotherapy

Detection of this fusion aids in prognosis, treatment planning, and minimal residual disease (MRD) monitoring.

Sample Requirements:

• Sample Type: Bone Marrow / Peripheral Blood

• Collection Tube: EDTA or Sodium Heparin Vacutainer

• Volume: 2–3 mL

• Transport Conditions: Room temperature; do not freeze

Methodology:

• RT-PCR (Reverse Transcriptase PCR) – Detects AML1/ETO fusion transcripts

• FISH – Optional for confirmation or poor-quality RNA samples

• Quantitative PCR – For MRD and follow-up testing

Turnaround Time:

5–7 working days

Indications for Testing:

• Diagnosis of AML, particularly when M2 subtype is suspected

• Baseline molecular profiling

• Prognostic stratification

• Monitoring of disease progression or remission

• Post-treatment MRD surveillance

Interpretation:

• Positive Result: Confirms presence of AML1/ETO fusion — generally indicates favorable prognosis with standard chemotherapy

• Negative Result: Suggests absence of t(8;21); other genetic abnormalities should be evaluated

• Quantitative Results: Useful for longitudinal MRD monitoring