Steiner Manuel, Attarbaschi Andishe, König Margit, Nebral Karin, Gadner Helmut, Haas Oskar A, Mann Georg
St. Anna Children's Hospital, Kinderspitalgasse 6, 1090 Vienna, Austria.
Pediatr Hematol Oncol. 2005 Apr-May;22(3):229-34. doi: 10.1080/08880010590921603.
Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, two of whom who suffered from a TEL/AML1+ leukemia. Based on this observation they concluded that individuals with BCP leukemia and a constitutional trisomy 21 may have similar likelihood to have a TEL/AML1 rearrangement as BCP ALL patients without this specific predisposing factor.
先天性21三体综合征是儿童白血病最主要的易感因素，而t(12;21)(p13;q22)及其分子遗传学对应物TEL/AML1融合基因，是儿童B细胞前体（BCP）急性淋巴细胞白血病（ALL）中最常见的获得性染色体重排。因此，根据目前可得的文献，唐氏综合征（DS）患者中TEL/AML1+ BCP ALL的发病率极低，这有点令人惊讶。为了以基于人群的方式进一步研究这个问题，作者在两项连续的奥地利ALL多中心试验中回顾性评估了患有TEL/AML1+ ALL的DS患者数量。据此，他们能够分析10例患有BCP ALL的DS患者中的8例，其中2例患有TEL/AML1+白血病。基于这一观察结果，他们得出结论，患有BCP白血病和先天性21三体综合征的个体与没有这种特定易感因素的BCP ALL患者相比，发生TEL/AML1重排的可能性可能相似。
