Köhler M, Johansson B, Ludvigsson J, Aman P, Heim S, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Cancer Genet Cytogenet. 1994 Mar;73(1):79-81. doi: 10.1016/0165-4608(94)90187-2.
Cytogenetic analysis of an acute myeloid leukemia (AML-M1) showed the karyotype 53,XY, +6, +8,t(8;21)(q22;q22), +9, +10, +13, +19, +21. Only one AML with a massively hyperdiploid karyotype (> 50 chromosomes) and t(8;21) has been published before. A comparison of the two cases reveals similarities both with regard to the morphologic subtype (M1) and to which chromosomes were trisomic (+6, +8, +13, +19, and +21 were found in both cases). We surmise that the t(8;21) was the primary chromosomal abnormality and that the set of multiple trisomies occurred secondarily; this pattern of clonal evolution may have favored a more immature leukemic phenotype in these two cases than is regularly seen in t(8;21)-associated leukemias.
对一例急性髓系白血病（AML-M1）进行的细胞遗传学分析显示其核型为53,XY, +6, +8,t(8;21)(q22;q22), +9, +10, +13, +19, +21。此前仅发表过一例具有大量超二倍体核型（>50条染色体）且伴有t(8;21)的急性髓系白血病。对这两例病例的比较揭示出，在形态学亚型（M1）以及三体化的染色体方面（两例均发现有+6、+8、+13、+19和+21）均存在相似性。我们推测t(8;21)是原发性染色体异常，而多个三体的出现是继发的；这种克隆进化模式可能使这两例病例中的白血病表型比常见的t(8;21)相关白血病更为幼稚。
