Chromosomal translocation seen in CML is?
## **Core Concept**
Chronic Myeloid Leukemia (CML) is a type of cancer that affects the white blood cells and tends to progress slowly over time. It is characterized by the overproduction of mature granulocytes in the bone marrow. A specific chromosomal abnormality is commonly associated with CML.
## **Why the Correct Answer is Right**
The correct answer involves a specific chromosomal translocation. CML is classically associated with the **Philadelphia chromosome**, which results from a reciprocal translocation between chromosome 9 and chromosome 22, denoted as **t(9;22)(q34;q11)**. This translocation leads to the fusion of the **BCR (Breakpoint Cluster Region) gene** on chromosome 22 with the **ABL1 gene** on chromosome 9, creating the **BCR-ABL1 fusion gene**. This fusion gene produces a tyrosine kinase enzyme that is always active and leads to uncontrolled cell growth.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Other chromosomal translocations might be associated with different types of cancers or conditions, but they are not specifically characteristic of CML.
- **Option B:** Similarly, this option does not accurately represent the translocation seen in CML.
- **Option D:** This option also does not represent the correct translocation associated with CML.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that the **Philadelphia chromosome** (resulting from **t(9;22) translocation**) is not only diagnostic for CML but also for a subset of acute lymphoblastic leukemia (ALL) cases. The presence of this translocation is a critical diagnostic criterion and also serves as a target for specific therapies, such as tyrosine kinase inhibitors (TKIs).
## **Correct Answer:** . t(9;22)(q34;q11)