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-yearold 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.