A pediatric myelodysplastic syndrome with chromosome 5q deletion

Myelodysplastic syndromes (MDS) are rare haematopoietic stem cell diseases in pediatric age group. Pediatric MDS patients have a more progressive course and rapidly transform to acute myeloblastic leukemia (AML). In this study, we report a 3-year- old de novo male pediatric patient who presented with refractory anemia with excess blasts and transformed into acute myelocytic leukemia (AML) in 4 months after the initial diagnosis. At the time of referral, a bone marrow aspirate revealed myelodysplastic changes. Cytogenetic analysis showed the following abnormalities: 46,XY[4]/46,XY,del(5q31)[11] karyotype which was confirmed by FISH analysis. At the follow-up stage, a chloromal lesion occurred at the level of 2 nd lumbar spine. Bone marrow aspiration revealed a leukemic transformation with 40% of myeloblasts. Cytogenetic and FISH analysis showed still the presence of 46,XY,del(5q31)[7]/46,XY,del(5q31),+mar [6] karyotypes. This patient is also the youngest to be reported with RAEB and chromosome 5q deletion and also showed a distinct clinical feature and progression to AML.