A 4-year-old child is diagnosed with pre-B ALL (CD19+, CD10+, TdT+). Bone marrow shows 85% blasts. Cytogenetics reveals t(12;21)(p13;q22) translocation. This translocation, which creates ETV6-RUNX1 fusion, is associated with which PROGNOSTIC category?

• A Standard/favorable risk: associated with excellent prognosis ✓
• B High risk: associated with inferior event-free survival
• C Very high risk: requires allogeneic stem cell transplant in first remission
• D Intermediate risk: no independent prognostic significance

Explanation

The t(12;21) ETV6-RUNX1 (TEL-AML1) fusion is the most common chromosomal translocation in childhood ALL (accounting for ~25% of pre-B ALL) and confers a favorable prognosis with 5-year event-free survival exceeding 90% with contemporary therapy. It represents a good-risk feature in most risk stratification systems. In contrast, t(9;22) Philadelphia chromosome, t(4;11) MLL rearrangement, and near-haploidy carry poor prognoses. The fusion protein impairs RUNX1-mediated transcription but is sensitive to standard chemotherapy.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.