Lytic bone disease as the presenting feature of Philadelphia-positive monosomy 7 myelodysplasia progressing to acute myeloid leukaemia.

We describe an unusual case of Philadelphia-positive, monosomy 7 myelodysplasia progressing to acute myeloid leukaemia in a 53 year old male who presented with bone-pain and B-symptoms and was found to have diffuse osteolytic lesions. Molecular genetic analysis revealed both b3a2 and e1a2 t(9;22) transcripts. Cytogenetic analysis was an additional useful test in determining the course and management of an atypical BCR-ABL positive myelodysplasia.