Abstract
Purpose: Diamond–Blackfan anaemia (DBA) is a rare pure congenital red cell aplasia, usually presenting in infancy or early childhood. The literature suggests a predisposition to haemopoietic malignancy but in addition solid tumours have been reported, with five cases of osteosarcoma described.Patient: A sixth case of a 12-year-old girl with DBA who developed an osteosarcoma of the distal femur is presented.Results: She was treated with methotrexate followed by tumour excision and distal femoral replacement. The patient is currently alive with multiple pulmonary metastases.Discussion: We discuss the association between the administration of growth hormone and future development of malignancy in patients with DBA.