Butturini A, Gale R P, Verlander P C, Adler-Brecher B, Gillio A P, Auerbach A D
Laboratory for Investigative Dermatology, Rockefeller University, New York, NY.
Blood. 1994 Sep 1;84(5):1650-5.
We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence interval, 93% to 99%) by 40 years of age. Common hematologic abnormalities were thrombocytopenia and pancytopenia. These were often associated with decreased bone marrow (BM) cellularity (75% of cases studied). Clonal cytogenetic abnormalities developed in 23 of 68 persons with BM failure who had adequate studies. Actuarial risk of clonal cytogenetic abnormalities during BM failure was 67% (47% to 87%) by 30 years of age. Fifty-nine subjects developed myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Actuarial risk of MDS or AML was 52% (37% to 67%) by 40 years of age. Risk was higher in persons with than in those without a prior clonal cytogenetic abnormality (3% [0% to 9%] v 35% [0% to 79%]; P = .006). One hundred twenty persons died of hematologic causes including BM failure, MDS or AML and treatment related complications. Actuarial risk of death from hematologic causes was 81% (67% to 90%) by 40 years of age.
我们分析了向国际范可尼贫血登记处（IFAR）报告的388例范可尼贫血患者的数据。其中，332例在中位年龄7岁（范围为出生至31岁）时出现血液学异常。到40岁时，发生造血异常的精算风险为98%（95%置信区间为93%至99%）。常见的血液学异常为血小板减少症和全血细胞减少症。这些异常常与骨髓（BM）细胞数量减少有关（75%的研究病例）。68例有充分研究的BM衰竭患者中有23例出现克隆性细胞遗传学异常。BM衰竭期间发生克隆性细胞遗传学异常的精算风险到30岁时为67%（47%至87%）。59例患者发生了骨髓增生异常综合征（MDS）或急性髓系白血病（AML）。到40岁时，发生MDS或AML的精算风险为52%（37%至67%）。有既往克隆性细胞遗传学异常的患者风险高于无此异常的患者（3%[0%至9%]对35%[0%至79%]；P = 0.006）。120人死于血液学原因，包括BM衰竭、MDS或AML以及治疗相关并发症。到40岁时，死于血液学原因的精算风险为81%（67%至90%）。
