Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia

Purpose: Diamond-Blackfan anemia or congenital pure red blood cell aplasia is one of the best defined congenital hematopoietic disorders. Although it has been suggested that affected patients are predisposed to developing acute leukemia, there have been no reports of sarcoma in patients with Diamond-Blackfan anemia. We describe a child who had Diamond-Blackfan anemia and who developed an osteogenic sarcoma. Patient and Methods: A case is presented of a 5-year-old girl who had transfusion-dependent Diamond-Blackfan anemia and hemochromatosis and who developed an osteogenic sarcoma of the tibia. Results: The patient had an initial response with an ifosfamide-containing chemotherapy regimen but died of multiple pulmonary metastases. Conclusion: Our patient is the 10th reported case of malignancy in Diamond-Blackfan anemia but the first instance of sarcoma. Given the increased rate of leukemia in Diamond-Blackfan anemia patients, we speculate there may also exist an association between osteopenic sarcoma occurring at a particularly young age and this uncommon hematologic disorder.