Isolated deletion of which chromosome causes Myelodysplastic syndrome ?
## **Core Concept**
Myelodysplastic syndromes (MDS) are a group of disorders caused by poorly formed or dysfunctional blood cells, typically leading to various forms of anemia. Cytogenetic abnormalities, including chromosomal deletions, are common in MDS. The question focuses on identifying a specific chromosomal deletion associated with MDS.
## **Why the Correct Answer is Right**
The correct answer, **5q deletion (Option D)**, is associated with a specific subtype of myelodysplastic syndrome known as the 5q- syndrome. This condition is characterized by isolated deletions of part of chromosome 5 (del(5q)) and tends to have a more favorable prognosis compared to other MDS subtypes. The 5q- syndrome often presents with refractory anemia, usually with a low risk of progression to acute myeloid leukemia (AML).
## **Why Each Wrong Option is Incorrect**
- **Option A:** While certain deletions or abnormalities in chromosome 7 can be associated with myelodysplastic syndromes or acute myeloid leukemia, isolated deletion of chromosome 7 is not specifically known for causing MDS in the same distinctive way as the 5q- syndrome.
- **Option B:** Chromosome 20 deletions can be found in myeloproliferative neoplasms and some cases of MDS, but they are not as specifically linked to MDS as the 5q deletion.
- **Option C:** There is less common association of isolated deletions of chromosome 8 with MDS; it's more commonly seen in AML or as part of complex karyotypes in MDS.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that the **5q- syndrome**, associated with isolated del(5q), often has a more favorable prognosis and distinct clinical features compared to other MDS subtypes. Patients with this condition may respond well to lenalidomide treatment, which targets the molecular pathogenesis associated with the 5q deletion.
## **Correct Answer:** D. 5q deletion.