Watson M S, Carroll A J, Shuster J J, Steuber C P, Borowitz M J, Behm F G, Pullen D J, Land V J
Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Blood. 1993 Nov 15;82(10):3098-102.
Of 1,036 children with newly diagnosed non-T, non-B acute lymphoblastic leukemia (ALL) and a demonstrated cytogenetic abnormality treated on the frontline Pediatric Oncology Group (POG) therapeutic trial 8602, there were 33 patients with trisomy 21 as the sole abnormality. Of these 33, 14 had Down syndrome (DS). Although the non-DS (NDS) trisomy 21 cases tended to be older than the DS cases, there were no other significant differences in clinicobiologic features nor in treatment outcomes between the DS and NDS groups, nor between the entire trisomy 21 group and the other chromosome abnormality group. Among NDS patients with +21 and one additional abnormality, +X, +16, -20, and structural abnormalities involving 6q or 12p were common findings. Kaplan-Meier event-free survival (EFS) curves showed a 4-year EFS of 80% (SE, 12%) in NDS trisomy 21 cases, 71% (SE, 22%) in DS cases with trisomy 21 as the sole abnormality, and 69% (SE, 2%) in cases with other chromosome abnormalities. Trisomy 21 as a sole acquired abnormality in NDS patients suggests a good prognosis.
在接受一线儿童肿瘤学组（POG）8602治疗试验的1036例新诊断的非T、非B急性淋巴细胞白血病（ALL）且有明确细胞遗传学异常的儿童中，有33例患者以21三体作为唯一异常。在这33例中，14例患有唐氏综合征（DS）。虽然非DS（NDS）21三体病例往往比DS病例年龄大，但DS组和NDS组之间在临床生物学特征或治疗结果方面没有其他显著差异，整个21三体组与其他染色体异常组之间也没有差异。在伴有+21和另一种异常的NDS患者中，+X、+16、-20以及涉及6q或12p的结构异常是常见发现。Kaplan-Meier无事件生存（EFS）曲线显示，NDS 21三体病例的4年EFS为80%（标准误，12%），以21三体作为唯一异常的DS病例为71%（标准误，22%），其他染色体异常病例为69%（标准误，2%）。NDS患者中21三体作为唯一获得性异常提示预后良好。
