Osteogenic sarcoma associated with Diamond-Blackfan anemia: A report from the Diamond-Blackfan Anemia Registry
Osteogenic sarcoma associated with Diamond-Blackfan anemia: A report from the Diamond-Blackfan Anemia Registry
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DOI：
10.1097/00043426-200101000-00009
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发表时间：
2001-01-01
影响因子：
1.2
通讯作者：
Vlachos, A
中科院分区：
文献类型：
--
作者：
Lipton, JM;Federman, N;Vlachos, A
目的：Diamond-Blackfan贫血（DBA）是一种先天性纯红细胞再生障碍性贫血，好发于婴幼儿。文献综述强烈支持造血系统恶性肿瘤的易感性。最近，实体瘤已被报道，一些归因于含铁血黄素沉着症和/或雄激素治疗。两例成骨肉瘤也被记录在案。从钻石-布莱克凡贫血登记处进行了分析，以评估癌症的风险与DBA.Methods患者：钻石-布莱克凡贫血登记处的北美（DBAR）是一个全面的数据库DBA患者登记，知情同意后，通过推广到儿科血液学家和家庭团体。患者和/或他们的家人完成一个详细的问卷调查，并进行审查的医疗记录和电话采访，以完成和澄清所提供的informations.Results：在DEAR登记的354例患者中，有6例符合公认的诊断标准DBA谁被发现有恶性肿瘤。3例患者诊断为成骨肉瘤，骨髓增生异常综合征，结肠癌，软组织sarcoma.Conclusion：有可能是成骨肉瘤与DBA的关联。年轻的表现可能是DBA相关的成骨肉瘤的一个特征。由于数据库的不成熟，DBA患者发生骨肉瘤和其他癌症的精算风险无法确定。推测是关于导致DBA和成骨肉瘤相关的分子缺陷的性质。
Purpose: Diamond-Blackfan anemia (DBA) is a congenital pure red cell aplasia, usually presenting in infancy or early childhood. A review of the literature strongly supports a predisposition to hematopoietic malignancy. Recently, solid tumors have been reported, some attributable to hemosiderosis and/or androgen therapy. Two cases of osteogenic sarcoma have also been documented. An analysis from the Diamond-Blackfan Anemia Registry was performed to evaluate the cancer risk in patients with DBA.Methods: The Diamond-Blackfan Anemia Registry of North America (DBAR) is a comprehensive database of patients with DBA enrolled, after informed consent, through outreach to pediatric hematologists and family groups. The patients and/or their families complete a detailed questionnaire, and a review of medical records and telephone interviews are performed to complete and clarify the information provided.Results: Of the 354 patients registered in the DEAR, there were six patients meeting the accepted diagnostic criteria for DBA who were found to have malignancies. Three patients had osteogenic sarcoma diagnosed, one with myelodysplastic syndrome, one with colon carcinoma, and one with a soft tissue sarcoma.Conclusion: There appears to be an association of osteogenic sarcoma with DBA. A young age at presentation may be a feature of DBA-associated osteogenic sarcoma. Because of the immaturity of the database, the actuarial risk for osteogenic sarcoma and other cancers in individuals with DBA cannot be ascertained. Speculation is made regarding the nature of the molecular defect leading to the association of DBA and osteogenic sarcoma.