Rosenberg Philip S, Huang Yi, Alter Blanche P
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Rm 7006, Rockville, MD 20852-7244, USA.
Blood. 2004 Jul 15;104(2):350-5. doi: 10.1182/blood-2004-01-0083. Epub 2004 Apr 1.
Fanconi anemia (FA) is an autosomal recessive condition associated with bone marrow failure (BMF) leading to death or hematopoietic stem cell transplantation, acute myeloid leukemia (AML), and solid tumors (STs). It is unclear which patients are most likely to develop each outcome. From a cohort of 144 North American patients with FA, we calculated individualized risks of each outcome, given the presence or absence of readily diagnosed congenital abnormalities that occur frequently in FA. Abnormal radii and a 5-item congenital abnormality score were significant risk factors for BMF. The cumulative incidence of BMF by age 10 years varied from 18% in the lowest BMF risk group to 83% in the highest. Because of competing risks, patients in the lowest BMF risk group were most likely to live long enough to develop AML or ST, and, conversely, patients in the highest BMF risk group were least likely to live long enough to develop AML or ST. By age 40, the cumulative incidence of ST ranged from 0.6% to 29% in the highest and lowest BMF risk groups, respectively. Abnormal radii are the strongest predictor of early BMF in FA; a congenital abnormality score separates patients with normal radii into distinct prognostic groups.
范可尼贫血（FA）是一种常染色体隐性疾病，与骨髓衰竭（BMF）相关，可导致死亡或需要进行造血干细胞移植，还与急性髓系白血病（AML）和实体瘤（STs）有关。目前尚不清楚哪些患者最有可能出现每种结局。在一组144例北美FA患者中，我们根据是否存在FA中常见的易于诊断的先天性异常，计算了每种结局的个体化风险。桡骨异常和一项包含5项内容的先天性异常评分是BMF的显著危险因素。10岁时BMF的累积发病率在最低BMF风险组为18%，在最高风险组为83%。由于存在竞争风险，最低BMF风险组的患者最有可能存活足够长的时间以发展为AML或ST，相反，最高BMF风险组的患者存活足够长的时间以发展为AML或ST的可能性最小。到40岁时，最高和最低BMF风险组中ST的累积发病率分别为0.6%至29%。桡骨异常是FA早期BMF的最强预测指标；先天性异常评分将桡骨正常的患者分为不同的预后组。
