A hematology-oncology tumor board is reviewing molecular pathology reports for several adult patients with newly diagnosed leukemias and lymphomas. The board discusses how these specific chromosomal abnormalities dictate both the fundamental pathophysiology and the selection of targeted therapies. Match each identified cytogenetic translocation with its corresponding primary molecular consequence.
- t(9;22) (q34;q11)Constitutive tyrosine kinase activation leading to uncontrolled cellular proliferation
- t(15;17) (q24;q21)Production of an abnormal fusion receptor that halts myeloid maturation
- t(14;18) (q32;q21)Overexpression of an anti-apoptotic protein preventing programmed cell death
- t(11;14) (q13;q32)Overexpression of a regulatory protein promoting the G1 to S phase cell cycle transition
Answer
The correct pairings match t(9;22) with constitutive tyrosine kinase activation, t(15;17) with halting of myeloid maturation, t(14;18) with overexpression of an anti-apoptotic protein, and t(11;14) with promoting the G1 to S phase transition.
Each chromosomal translocation involves the juxtaposition of specific genes that uniquely alter cellular function. t(9;22) creates a BCR-ABL fusion tyrosine kinase. t(15;17) creates PML-RARA which suppresses retinoic acid-induced transcription, halting differentiation. t(14;18) translocates BCL-2 to the highly active IgH promoter, preventing apoptosis. t(11;14) translocates Cyclin D1 to the IgH promoter, promoting cell cycle progression.
Step-by-Step Solution
Key Concept
Molecular basis of hematologic malignancies driven by specific chromosomal translocations.
Estimated Time:1m 30s