USMLE (United States Medical Licensing Examination) Step 1 Practice Exam

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Which condition is associated with a translocation of retinoic acid receptor from chromosome 15 to chromosome 17?

  1. Polycythemia Vera

  2. Polycythemia

  3. Acute lymphoblastic leukemia/lymphoma

  4. Corticosteroid-induced neutrophilia

The correct answer is: Acute lymphoblastic leukemia/lymphoma

The condition associated with a translocation of the retinoic acid receptor from chromosome 15 to chromosome 17 is acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia. This translocation typically involves t(15;17), which results in the fusion gene encoding the promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA). This genetic alteration disrupts normal hematopoiesis and promotes leukemogenesis. In APL, the fusion protein formed by this translocation interferes with normal cellular differentiation and proliferation, leading to the accumulation of promyelocytes in the bone marrow and peripheral blood. The clinical significance of this translocation lies in its association with unique clinical features and a highly effective treatment approach using all-trans retinoic acid (ATRA), which can lead to remission. The other conditions mentioned do not involve this specific genetic alteration. This distinction is crucial for proper diagnosis and understanding the pathology underlying acute promyelocytic leukemia specifically.

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