Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome.
It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family. Diagnosis is achieved through marrow biopsy.
Presentation
The 5q-syndrome is characterized by macrocytic anemia, often a moderate thrombocytosis, erythroblastopenia, megakaryocyte hyperplasia with nuclear hypolobation, and an isolated interstitial deletion of chromosome 5. The 5q- syndrome is found predominantly in females of advanced age.
Causes
Several genes in the deleted region appear to play a role in the pathogenesis of 5q-syndrome.
Treatment
Lenalidomide has activity in 5q- syndrome There are several possible mechanisms that link the haploinsufficiency molecular lesions with lenalidomide sensitivity.
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