World Journal of Pathology Volume No 9

Original Article Open Access

Myelodysplastic Syndrome (MDS) with Isolated 5q Deletion (5q –Syndrome): Report of two cases with review of literature

Bargotya Mona, Mehta Ankita, Dutt Sarjana, Dua Harsh and Singh Tejinder
World Journal of Pathology 2018, 7:1


Cytogenetics is frequently seen in myelodysplasia and deletion of the long arm of chromosome 5, del (5q) is the most frequently observed cytogenetic abnormality in patients with myelodysplastic syndrome (MDS). This distinct hematologic phenotype with5q- deletion as the solekaryotypic abnormality is termed as 5q- syndrome. The World Health Organisation in 2001 recognized MDS with isolated del (5q) as a unique, narrowly defined distinct entity. The 5q-syndrome is the most distinct of all the myelodysplastic syndromes, and the molecular basis of this disorder still remains unknown. Herein, we present two cases of 5q-syndrome. Both the cases were elderly males who presented with refractory anemia. Bone marrow aspirate smears and bone marrow biopsy showed morphological features suggestive of 5q-syndrome FISH was performed to confirm 5q syndrome. Advances in the understanding of the pathogenesis of 5q deletion syndrome have suggested that it is actually a highly heterogeneous disease with variable prognosis. We discuss clinical and morphological features as well as new evolving therapies for reversal of anaemia and treatment of 5q syndrome.

Key words:

Myelodysplastic syndrome, Lenalidomide, 5q deletion

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