Which type of acute leukemia is associated with the genetic change t(8;21)(q22;q22)?

Prepare for the International Technologist in Cytogenetics ASCP exam with comprehensive flashcards and practice questions. Each question is accompanied by hints and explanations. Ace your test with confidence!

The genetic change t(8;21)(q22;q22) is specifically associated with Acute Myeloid Leukemia (AML), particularly the M2 subtype. This translocation results in the fusion gene RUNX1-RUNX1T1, which plays a significant role in the pathogenesis of AML M2 by promoting cellular proliferation and inhibiting differentiation.

In patients with this genetic marker, the clinical presentation often includes a higher white blood cell count and a distinct morphology of the blasts found in the bone marrow or peripheral blood. The presence of the t(8;21) translocation is not only a diagnostic feature but also has implications for treatment response and prognosis, as it is generally associated with a favorable outcome when properly managed.

Understanding this genetic alteration is crucial for cytogenetic testing and providing appropriate patient care in the context of AML. In this way, recognizing the specific association of the t(8;21) translocation with AML M2 helps in both diagnosis and prognosis of the disease.

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