Riesch M, Niggli F K, Leibundgut K, Caflisch U, Betts D R
Department of Oncology, University Children's Hospital, Steinwiesstrasse 75, CH-8032, Zürich, Switzerland.
Cancer Genet Cytogenet. 2001 Feb;125(1):27-9. doi: 10.1016/s0165-4608(00)00354-x.
We present six cases of childhood acute lymphoblastic leukemia (ALL) in which an acquired loss of the X chromosome was detected. The cases derive from a consecutive series of 178 childhood ALL, consisting of 80 girls and 98 boys. In five cases the presence of the TEL-AML1, t(12;21), fusion product was detected by FISH. The single negative case had an unusual t(1;19)(p13;q13). In addition, this was the only case that did not have a cytogenetically visible rearrangement involving one of the chromosome regions 6q, 9p, or 12p. The six cases showed the typical presentation features of an ALL of FAB type L1, a common ALL immunophenotype with myeloid marker co-expression, and a median presenting age of 7 years. We, therefore, conclude that loss of chromosome X may be a secondary event in older girls with TEL-AML1-positive ALL.
我们报告了6例儿童急性淋巴细胞白血病（ALL），其中检测到X染色体获得性缺失。这些病例来自连续的178例儿童ALL，包括80名女孩和98名男孩。5例通过荧光原位杂交（FISH）检测到TEL-AML1、t(12;21)融合产物。唯一的阴性病例有异常的t(1;19)(p13;q13)。此外，这是唯一一例在细胞遗传学上未发现涉及6q、9p或12p染色体区域之一的重排的病例。这6例病例表现出FAB L1型ALL的典型临床表现、伴有髓系标志物共表达的常见ALL免疫表型，中位发病年龄为7岁。因此，我们得出结论，X染色体缺失可能是TEL-AML1阳性ALL的大龄女孩中的一个继发事件。
