The most common aberration in pediatric B-cell ALL is t(12;21)(p13;q22) with an incidence of about 25%, compared to <5% in adults. The result of this reciprocal translocation is an ETV6/RUNX1 fusion gene. Scientific data suggest that ETV6/RUNX1 is already established prenatally, but additional chromosomal aberrations are necessary for the development of ALL postnatally. The ETV6/RUNX1 fusion gene is transcriptionally active and is dysregulating a cascade of downstream genes. One study has shown, that all positive t(12;21) cases harbored the ETV6/RUNX1 fusion gene but not the reciprocal gene. This suggests, that ETV6/RUNX1 is involved in the manifestation of ALL, but not RUNX1/ETV6.
- Sample collection: Non-diluted bone marrow aspirate. Collect in a sodium heparinized Vacutainer.
- Specimen preparation: Do not freeze or expose to extreme temperatures.
- Bone Marrow: Transfer 3 mL bone marrow to a Green (Sodium Heparin). (Min: 1 mL)
- Whole Blood: Transport 5 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature: Room temperature.
- Unacceptable Conditions: Frozen specimens. Clotted specimens.
- Remarks:
- Stability: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Fluorescence in situ Hybridization (FISH)
Sample received to report Turnaround time (TAT)
3 working days
————-
Interpretive Data
The most recent WHO classification of Tumours of Hematopoietic and Lymphoid Tissues (Revised 5th edition) is used for interpretation criteria for evaluation.
Resources
- Additional Technical Information
- Test Request Form
Sample Reports
- Enhanced Report
- See report