Chromosomal translocation characteristic in acute promyelocytic leukemia is
## **Core Concept**
Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) characterized by the accumulation of immature granulocytes, known as promyelocytes. It is associated with a specific chromosomal translocation involving the retinoic acid receptor-alpha (RARα) gene. This translocation disrupts the normal function of RARα, leading to the development of leukemia.
## **Why the Correct Answer is Right**
The correct answer, ., refers to the t(15;17) translocation, which results in the fusion of the promyelocytic leukemia (PML) gene with the RARα gene. This PML-RARα fusion protein acts as an oncogene, inhibiting the differentiation of myeloid cells and leading to the accumulation of promyelocytes in the bone marrow and peripheral blood. The t(15;17) translocation is highly specific for APL and is found in approximately 70-90% of patients with this disease.
## **Why Each Wrong Option is Incorrect**
* **Option A:** . - This option is incorrect because while t(8;21) is a common chromosomal translocation in AML, it is more frequently associated with AML with maturation (M2 subtype) rather than APL.
* **Option B:** . - This option is incorrect because inv(16) is typically associated with the M4Eo subtype of AML, characterized by eosinophilia.
* **Option D:** . - This option is incorrect because t(9;22), also known as the Philadelphia chromosome, is primarily associated with chronic myeloid leukemia (CML) and some cases of acute lymphoblastic leukemia (ALL), not APL.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that the presence of t(15;17) and the resultant PML-RARα fusion protein makes APL highly responsive to all-trans retinoic acid (ATRA) and arsenic trioxide therapy, which target the abnormal RARα pathway. This has significantly improved the prognosis for patients with APL.
## **Correct Answer:** . t(15;17)