Question

Difficulty: MediumPediatric Hematology and Oncology

A pediatric hematology and oncology team is reviewing diagnostic studies for several newly admitted children. Match each characteristic cytogenetic or molecular finding with its corresponding pediatric malignancy.

  • t(8;14) translocation involving the c-MYC oncogeneBurkitt lymphoma
  • t(12;21) translocation involving ETV6-RUNX1B-cell acute lymphoblastic leukemia (B-ALL)
  • Amplification of the N-MYC oncogeneNeuroblastoma
  • t(15;17) translocation yielding the PML-RARA fusion proteinAcute promyelocytic leukemia

Answer

t(8;14) matches Burkitt lymphoma; t(12;21) matches B-ALL; N-MYC amplification matches Neuroblastoma; t(15;17) matches Acute promyelocytic leukemia.
Each cytogenetic abnormality uniquely corresponds to a specific pediatric malignancy. Burkitt lymphoma is driven by c-MYC via t(8;14); childhood B-ALL frequently features t(12;21); neuroblastoma severity is linked to N-MYC amplification; and acute promyelocytic leukemia is defined by the t(15;17) PML-RARA fusion.

Step-by-Step Solution

1
Evaluate the t(8;14) translocation.
Identified as the c-MYC translocation associated with Burkitt lymphoma.
c-MYC over-expression drives the 'starry sky' appearance and rapid growth characteristic of Burkitt lymphoma.
2
Evaluate the t(12;21) translocation.
Identified as the ETV6-RUNX1 fusion associated with B-cell acute lymphoblastic leukemia.
This is a key prognostic marker in pediatric B-ALL, indicating a favorable outcome and specific leukemogenesis pathway.
3
Evaluate the amplification of N-MYC.
Identified as a hallmark of high-risk neuroblastoma.
Neuroblastoma often exhibits N-MYC amplification (visible as double minutes or homogeneously staining regions), which directly correlates with tumor aggressiveness.
4
Evaluate the t(15;17) translocation.
Identified as the PML-RARA fusion associated with acute promyelocytic leukemia.
This specific translocation blocks promyelocyte differentiation, leading to APL and its associated severe coagulopathy.

Key Concept

Cytogenetic and molecular markers are essential for diagnosing, risk-stratifying, and guiding the targeted treatment of pediatric hematologic and solid malignancies.
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