2A36/D46.6 Myelodysplastic syndrome with isolated del(5q)



Myelodysplastic syndrome (MDS) with isolated del(5q) is caused by a chromosomal deletion of the long arm of chromosome 5 (5q). This deletion affects the production of red blood cells and other components of the blood.


MDS with isolated del(5q) is typically diagnosed by a combination of physical examination, laboratory tests, and imaging. Laboratory tests may include complete blood count, peripheral blood smear, bone marrow biopsy and cytogenetic analysis. Imaging tests, such as CT scan or MRI, may be used to detect abnormalities in the bone marrow.

Differential diagnosis

Other myelodysplastic syndromes and leukemias should be considered in the differential diagnosis of MDS with isolated del(5q).


Treatment of MDS with isolated del(5q) is typically supportive care, such as blood transfusions and iron chelation therapy. Additionally, treatment with lenalidomide (Revlimid) may be recommended for those with symptomatic anemia.


The prognosis of MDS with isolated del(5q) is generally better than other forms of MDS. The median survival is approximately 6 years, and some patients may live for more than 20 years.

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