Fish Analysis, ETV6/RUNX1 (TEL/AML1) Translocation

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Pseudonyms: t(12;21); 12;21 Translocation; ETV6-RUNX1 Translocation; ETV6-RUNX1 Fusion; TEL-AML1 Translocation; TEL-AML1 Fusion; Pediatric Acute Lymphocytic Leukemia; Pediatric ALL

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 12;21 translocation which occurs in B-cell ALL in the pediatric age group
Methods: A dual-color dual-fusion FISH analysis performed on interphase cells using a probe for the TEL (ETV6) gene on chromosome 12 (p13) and a probe for the AML1 (RUNX1) gene on chromosome 21 (q22); analysis of 200 interphase cells; analysis of 500 interphase cells for minimal residual disease assessment
Interpretation: A positive result (TEL-AML1 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 B-cell ALL with the 12;21 translocation. A negative result indicates no 12;21 translocation 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 be used as an adjunct to clinical and pathological information.
Indications for Use:
  • Patients with B-cell ALL; establishing the percentage of neoplastic cells at diagnosis
  • Identifying patients with ALL with a 12;21 translocation (TEL/AML1 fusion)
  • Prognostic indicator for patients with B-cell ALL
  • Monitoring the 12;21 translocation (TEL/AML1 fusion) during treatment