A 5-year-old child presents with pallor, petechiae, fever, and bone pain. CBC shows WBC 85,000/mm³ with 90% blasts, Hb 6 g/dL, platelets 18,000/mm³. Immunophenotyping shows CD19+, CD10+, TdT+. Cytogenetics reveals t(12;21)(p13;q22) (ETV6-RUNX1 fusion). This translocation is associated with which prognosis?
- A Excellent prognosis; one of the most favourable cytogenetic findings in paediatric B-ALL ✓
- B Poor prognosis; associated with early relapse
- C Intermediate prognosis; treated with standard-risk BFM protocol
- D Poor prognosis; requires allogeneic HSCT in first remission
Correct answer: A. Excellent prognosis; one of the most favourable cytogenetic findings in paediatric B-ALL
Explanation
The t(12;21)(p13;q22) translocation producing the ETV6-RUNX1 (formerly TEL-AML1) fusion is the most common chromosomal rearrangement in paediatric B-ALL (~25% of cases) and confers an excellent prognosis with event-free survival exceeding 90% with standard chemotherapy. It is associated with a favourable response to treatment and low relapse rate. Poor-prognosis cytogenetics include t(9;22)/BCR-ABL1 (Philadelphia chromosome), t(4;11)/KMT2A-rearranged (infant ALL), and hypodiploidy (<44 chromosomes). Hyperdiploidy (>50 chromosomes) is another favourable finding.
Reference: Ghai Essential Pediatrics, 10th ed.
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