Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
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DOI：
10.1182/blood-2011-08-375972
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发表时间：
2012-04-19
期刊：
影响因子：
20.3
通讯作者：
Lipton, Jeffrey M.
中科院分区：
文献类型：
--
作者：
Vlachos, Adrianna;Rosenberg, Philip S.;Lipton, Jeffrey M.
戴蒙德·布莱克凡贫血 (DBA) 是一种遗传性骨髓衰竭综合征，其特征是红细胞再生障碍和先天性异常。已提出癌症易感性，但病例报告并未对其进行量化。北美 DBA 登记处 (DBAR) 是最大的 DBA 患者队列，自 1991 年起进行前瞻性随访。本报告首次对 DBA 癌症发病率进行定量评估。在 608 名患者的 9458 人年随访中，未接受骨髓移植的患者在中位年龄 41 岁时被诊断出患有实体瘤、2 例急性髓性白血病和 2 例骨髓增生异常综合征。 DBA 的癌症发病率显着升高。所有癌症的观察与预期比率合计为 5.4 (P < .05)；骨髓增生异常综合征的显着观察与预期比率为287，急性髓系白血病为28，结肠癌为36，成骨肉瘤为33，女性生殖器癌症为12。中位生存期为 56 岁，46 岁时实体瘤/白血病的累积发病率约为 20%。与范可尼贫血和先天性角化不良一样，DBA 既是一种遗传性骨髓衰竭综合征，也是一种癌症易感综合征； DBA 患癌症的风险似乎低于范可尼贫血或先天性角化不良的风险。该试验在 www.clinicaltrials.gov 上注册为#NCT00106015。 （血。2012；119(16):3815-3819）
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to cancer has been suggested but not quantified by case reports. The DBA Registry of North America (DBAR) is the largest established DBA patient cohort, with prospective follow-up since 1991. This report presents the first quantitative assessment of cancer incidence in DBA. Among 608 patients with 9458 person-years of follow-up, 15 solid tumors, 2 acute myeloid leukemias, and 2 cases of myelodysplastic syndrome were diagnosed at a median age of 41 years in patients who had not received a bone marrow transplant. Cancer incidence in DBA was significantly elevated. The observed-to-expected ratio for all cancers combined was 5.4 (P < .05); significant observed-to-expected ratios were 287 for myelodysplastic syndrome, 28 for acute myeloid leukemia, 36 for colon carcinoma, 33 for osteogenic sarcoma, and 12 for female genital cancers. The median survival was 56 years, and the cumulative incidence of solid tumor/leukemia was approximately 20% by age 46 years. As in Fanconi anemia and dyskeratosis congenita, DBA is both an inherited bone marrow failure syndrome and a cancer predisposition syndrome; cancer risks appear lower in DBA than in Fanconi anemia or dyskeratosis congenita. This trial was registered at www.clinicaltrials.gov as #NCT00106015. (Blood. 2012;119(16):3815-3819)