Buccheri V, Matutes E, Dyer M J, Catovsky D
Academic Department of Haematology and Cytogenetics, Royal Marsden Hospital, London, UK.
Leukemia. 1993 Jun;7(6):919-27.
Acute leukemias (ALs) with phenotypic and genotypic features of several hematopoietic lineages are difficult to classify and may represent the transformation of multipotent stem cells. We have studied immunological features of 200 cases of acute leukemia (109 acute myelogenous leukemia, AML, and 91 acute lymphoblastic leukemia, ALL, according to FAB criteria), including 17 (8.5%) classified as biphenotypic by a scoring system based on the number and specificity of unexpected lineage antigens and which gives more weight to cytoplasmic markers such as myeloperoxidase, CD3, and CD22, and less to other membrane markers. Sixty-eight AML and 42 ALL cases were also examined for rearrangements of the immunoglobulin (Ig) and T-cell receptor (TCR) beta, gamma, and delta genes, and these included 12 biphenotypic AL. The expression of myeloid antigens in ALL was seen in 25% of the cases. All B-lineage ALL had rearrangements and/or deletions of the Ig genes whereas TCR beta, gamma, and delta genes were rearranged in 21%, 52%, and 71%, respectively. TCR delta, gamma and/or beta were rearranged in T-ALL and four out of 13 cases had Ig gene rearrangement. Lymphoid-associated antigens were expressed in 40% of AML cases; those most frequent expressed were CD7 (17%), CD2 (15%), CD19 (10%), and CD10 (7.5%). Evidence of Ig and/or TCR gene rearrangements was detected in 12% of AML cases. There was no correlation between the isolated expression of terminal deoxynucleotidyl transferase (TdT), B, and T-cell antigens with Ig and TCR gene rearrangements. However, in cases of AML defined as biphenotypic because they expressed two or more lymphoid antigens there was a statistically significant correlation between gene rearrangements and lymphoid score (p < 0.001). Our findings support the concept of biphenotypic leukemia as a distinct entity in which there is frequent correspondence between phenotypic and genotypic changes.
具有多种造血谱系表型和基因型特征的急性白血病（AL）难以分类，可能代表多能干细胞的转化。我们研究了200例急性白血病（根据FAB标准，109例急性髓性白血病，AML，91例急性淋巴细胞白血病，ALL）的免疫学特征，其中17例（8.5%）根据基于意外谱系抗原数量和特异性的评分系统被分类为双表型，该系统更重视细胞质标志物如髓过氧化物酶、CD3和CD22，而对其他膜标志物的重视程度较低。还对68例AML和42例ALL病例进行了免疫球蛋白（Ig）和T细胞受体（TCR）β、γ和δ基因重排的检测，其中包括12例双表型AL。ALL病例中25%可见髓系抗原表达。所有B系ALL均有Ig基因重排和/或缺失，而TCRβ、γ和δ基因重排分别为21%、52%和71%。T-ALL中TCRδ、γ和/或β重排，13例中有4例有Ig基因重排。40%的AML病例表达淋巴相关抗原；最常表达的是CD7（17%）、CD2（15%）、CD19（10%）和CD10（7.5%）。12%的AML病例检测到Ig和/或TCR基因重排的证据。末端脱氧核苷酸转移酶（TdT）、B和T细胞抗原的单独表达与Ig和TCR基因重排之间无相关性。然而，在因表达两种或更多种淋巴抗原而被定义为双表型的AML病例中，基因重排与淋巴评分之间存在统计学显著相关性（p < 0.001）。我们的研究结果支持双表型白血病是一种独特实体的概念，其中表型和基因型变化之间经常存在对应关系。
