Isolated deletion of which chromosome cause myelodysplastic syndrome
**Core Concept:** Myelodysplastic syndromes (MDS) are a group of blood and marrow disorders characterized by ineffective blood cell production, cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). These syndromes are often associated with chromosomal abnormalities.
**Why the Correct Answer is Right:** Isolated deletion of chromosome 5 (5q- syndrome) is a specific chromosomal abnormality that can lead to the development of myelodysplastic syndrome. The deletion involves the short arm of chromosome 5, which contains the MDS1 and EVI1 (MECOM) gene. Mutations in this gene result in dysregulation of hematopoiesis leading to ineffective blood cell production and cytopenias.
**Why Each Wrong Option is Incorrect:**
A. Deletion of chromosome 7 (7q-) is another chromosomal abnormality associated with MDS. Unlike option C, deletion of chromosome 7 does not specifically target the MDS1 and EVI1 gene, making it less likely to cause 5q- syndrome.
B. Isolated deletion of chromosome 8 (8p-) is not associated with MDS. This option does not target the MDS1 and EVI1 gene, making it an incorrect cause of 5q- syndrome.
C. Deletion of chromosome 5q (5q-) is the correct answer, as it involves the MDS1 and EVI1 gene, leading to dysregulation of hematopoiesis and the development of 5q- syndrome.
D. Isolated deletion of chromosome 17 (17p-) is another chromosomal abnormality associated with MDS. However, it does not specifically target the MDS1 and EVI1 gene, making it an incorrect cause of 5q- syndrome.
**Clinical Pearl:** Identifying specific chromosomal abnormalities, such as a deletion of chromosome 5q, can help in diagnosing myelodysplastic syndromes and guiding treatment decisions.
**Core Concept:** Chromosomal abnormalities are a common feature in patients with MDS and are often used to diagnose and categorize the disease. They can also help predict prognosis and guide treatment decisions.
**Correct Answer: C (Deletion of chromosome 5q)**
Myelodysplastic syndrome (MDS) is a group of disorders characterized by dysplasia of one or more hematopoietic lineages and an increased risk of progression to acute myeloid leukemia (AML). These disorders are often associated with chromosomal abnormalities.
**Why Each Wrong Option is Incorrect:**
A. Deletion of chromosome 7 does not specifically target the MDS1 and EVI1 gene, which is the key factor in the development of 5q- syndrome.
B. Deletion of chromosome 17 does not target the MDS1 and EVI1 gene, making it an incorrect cause of 5q- syndrome.
D. Deletion of chromosome 8 is not a specific cause of 5q- syndrome, as it does not involve the MDS1 and EVI1 gene.
**Clinical Pearl:** Ident