Aquino V M, Buchanan G R
Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas 75235, USA.
J Pediatr Hematol Oncol. 1996 May;18(2):230-2. doi: 10.1097/00043426-199605000-00030.
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.
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.
The patient had an initial response with an ifosfamide-containing chemotherapy regimen but died of multiple pulmonary metastases.
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 osteogenic sarcoma occurring at a particularly young age and this uncommon hematologic disorder.
钻石-黑范贫血或先天性纯红细胞再生障碍性贫血是最明确的先天性造血障碍之一。尽管有研究表明，患病患者易患急性白血病，但尚无关于钻石-黑范贫血患者发生肉瘤的报道。我们报告了一名患有钻石-黑范贫血并发生骨肉瘤的儿童。
本文报告了一名5岁女孩的病例，该女孩患有依赖输血的钻石-黑范贫血和血色素沉着症，并发生了胫骨骨肉瘤。
患者对含异环磷酰胺的化疗方案有初始反应，但死于多发肺转移。
我们的患者是第10例报道的钻石-黑范贫血合并恶性肿瘤的病例，但却是首例肉瘤病例。鉴于钻石-黑范贫血患者白血病发病率增加，我们推测在特别年轻的患者中发生的骨肉瘤与这种罕见的血液系统疾病之间可能也存在关联。
