OSTEOGENIC-SARCOMA IN A CHILD WITH TRANSFUSION-DEPENDENT DIAMOND-BLACKFAN ANEMIA

Purpose: Diamond-Blackfan anemia or congenital pure red blood cell apl asia is one of the best defined congenital hematopoietic disorders. Al though it has been suggested that affected patients are predisposed to developing acute leukemia, there have been no reports of sarcoma in p atients with Diamond-Blackfan anemia. We describe a child who had Diam ond-Blackfan anemia and who developed an osteogenic sarcoma. Patient a nd Methods: A case is presented of a 5-year-old girl who had transfusi on-dependent Diamond-Blackfan anemia and hemochromatosis and who devel oped an osteogenic sarcoma of the tibia. Results: The patient had an i nitial 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 f irst instance of sarcoma. Given the increased rate of leukemia in Diam ond-Blackfan anemia patients, we speculate there may also exist an ass ociation between osteopenic sarcoma occurring at a particularly young age and this uncommon hematologic disorder.