Hayashi Y, Pui C H, Behm F G, Fuchs A H, Raimondi S C, Kitchingman G R, Mirro J, Williams D L
Department of Pathology and Laboratory Medicine, St Jude Children's Research Hospital, Memphis, TN 38105.
Blood. 1990 Jul 1;76(1):150-6.
The frequency and characteristics of childhood acute leukemia with a 14q32 translocation [other than the t(8;14)(q24;q32)] were determined in 335 cases of newly diagnosed acute lymphoblastic leukemia (ALL) and 105 cases of acute nonlymphoblastic leukemia (ANLL). Ten children, representing 2.3% of the entire cohort, had this abnormality (1.5% of ALL patients and 4.8% of ANLL patients). By French-American-British (FAB) criteria, 4 cases were classified as L1, 1 as L2, 2 as M1, 1 as M2, and 2 as M5. Remarkably, mixed-lineage expression was found in 6 of these 10 cases, but in only 21 of the other 430 cases without a 14q32 translocation (P less than .001). Leukemic cells from 5 of these 6 cases (4 ANLL, and 1 ALL) coexpressed CD13, a myeloid-associated antigen, and CD2, a T-cell-associated antigen; blasts from the sixth case (ALL) coexpressed CD13 and CD19, a B-lineage-associated antigen. Thus, in addition to the well-described 11q23 translocations and t(9;22), 14q32 translocations also appear to be associated with mixed lineage antigen expression. Break-points of the reciprocal chromosomes from chromosome 14 were identified in five of these cases: 1q23, 6q23-q25, 7p15, 8q11, and 12q13. Of the four mixed-lineage cases that were tested, none showed rearrangement of the immunoglobulin heavy chain (IgH) gene. This suggests that the 14q32 breakpoint does not involve the IgH gene and that an unidentified important gene may reside on 14q32.
在335例新诊断的急性淋巴细胞白血病(ALL)和105例急性非淋巴细胞白血病(ANLL)中,确定了伴有14q32易位[不包括t(8;14)(q24;q32)]的儿童急性白血病的频率和特征。10名儿童存在这种异常,占整个队列的2.3%(ALL患者的1.5%和ANLL患者的4.8%)。按照法美英(FAB)标准,4例被分类为L1,1例为L2,2例为M1,1例为M2,2例为M5。值得注意的是,这10例中的6例发现有混合谱系表达,但在另外430例无14q32易位的病例中只有21例出现这种情况(P<0.001)。这6例中的5例(4例ANLL和1例ALL)的白血病细胞共表达髓系相关抗原CD13和T细胞相关抗原CD2;第6例(ALL)的原始细胞共表达CD13和B谱系相关抗原CD19。因此,除了已充分描述的11q23易位和t(9;22)外,14q32易位似乎也与混合谱系抗原表达有关。在其中5例中确定了来自14号染色体的相互易位染色体的断点:1q23、6q23 - q25、7p15、8q11和12q13。在检测的4例混合谱系病例中,无一例显示免疫球蛋白重链(IgH)基因重排。这表明14q32断点不涉及IgH基因,并且一个未确定的重要基因可能位于14q32上。