MDS with deletion 5q - a distinct subtype of myelodysplastic syndromes

Deletion of the long arm of chromosome 5 (del(5q)) is a recurrent anomaly in myelodysplastic syndromes associated with a distinct pathophysiology and specific treatment options. MDS with isolated del(5q) are associated with a favorable risk profile and can be treated with lenalidomide. MDS with isolated del(q) have to be distinguished from MDS with an anomaly on the long arm of chromosome 5 and more than one additional mutation turning these cases into high-risk forms of MDS.

Automated summary

Deletion of the long arm of chromosome 5 (del(5q)) is a common anomaly in myelodysplastic syndromes, which has specific pathophysiology and treatment options. MDS patients with isolated del(5q) have a low risk profile and can be treated with lenalidomide. It is important to differentiate isolated del(5q) from MDS with an anomaly on the long arm of chromosome 5 and additional mutations, which are classified as high-risk forms of MDS.