Van den Berghe's 5q- syndrome and myelodysplastic syndrome with isolated del(5q)

摘要

Dear Editor,The del(5q) cytogenetic abnormality was first described by Van den Berghe et al. in 1974.1 The original manuscript described five patients with a macrocytic anemia, dyserythropoiesis with erythroid hypoplasia, normal to elevated platelet count, hypolobulated megakaryocytes and an interstitial deletion involving the long arm of chromosome 5. However, a deletion of chromosome 5q in myelodysplastic syndrome (MDS) does not necessarily equate to the clinically described 5q- syndrome because, by definition, the 5q- syndrome is a distinct entity with the aforementioned clinical characteristics.2 As we routinely evaluate patients with suspicion of MDS, some unusual clinical situations have emerged in our clinical practice.