Köller U, Haas O A, Ludwig W D, Bartram C R, Harbott J, Panzer-Grümayer R, Hansen-Hagge T, Ritter J, Creutzig U, Knapp W
Institute of Immunology, University of Vienna, Austria.
Leukemia. 1989 Oct;3(10):708-14.
We have studied the immunophenotypic and genotypic characteristic of acute nonlymphoblastic leukemias (ANLL) in infants aged less than one year. Sixty-four percent of cases (16/25) showed a myeloid or myelomonocytic differentiation pattern and 10 of these were classified as FAB M5 (7 M5a, 3 M5b). Only seven of the latter cases expressed the CD14 antigen. Acute megakaryocytic leukemia with a high number of glycoprotein IIb/IIIa or IIIa positive blasts were identified in five patients. Erythroleukemia with a high percentage of rather mature glycophorin A positive erythroblasts were diagnosed in two infants. Cytogenetic studies were successfully performed in all 20 cases investigated. Abnormalities involving chromosome 11 were present in 10 of 17 patients with an abnormal karyotype including five cases with a t(9;11)(p21;q23). Immunoglobulin (Ig) and T cell receptor (TCR) gene analyses were performed in 20 patients. A rearrangement of Ig heavy chain sequences was detected in five cases (20%), one of whom exhibited multiple rearranged fragments. Three of these patients showed additional TCR delta-chain gene rearrangements, while Ig kappa, TCR beta- as well as TCR gamma-chain genes showed a germline configuration in all cases analyzed. Our study confirms the high incidence of myelomonocytic and monoblastic subtypes in infants with ANLL, which are particularly closely associated with chromosome 11 abnormalities. However, we also observed an unexpected high frequency of megakaryoblastic leukemias as well as erythroleukemias. As previously reported for ALL in infants, ANLL of infancy shows a similar heterogeneity regarding phenotypic and genotypic features.
我们研究了年龄小于1岁婴儿急性非淋巴细胞白血病（ANLL）的免疫表型和基因型特征。64%的病例（16/25）表现为髓系或髓单核细胞分化模式，其中10例被归类为FAB M5（7例M5a，3例M5b）。后一组病例中只有7例表达CD14抗原。5例患者被诊断为急性巨核细胞白血病，其原始细胞中糖蛋白IIb/IIIa或IIIa阳性数量较多。2例婴儿被诊断为红白血病，其相当成熟的血型糖蛋白A阳性成红细胞百分比很高。对所有20例研究病例均成功进行了细胞遗传学研究。17例核型异常的患者中有10例存在涉及11号染色体的异常，包括5例t(9;11)(p21;q23)。对20例患者进行了免疫球蛋白（Ig）和T细胞受体（TCR）基因分析。在5例病例（20%）中检测到Ig重链序列重排，其中1例表现出多个重排片段。这些患者中有3例还存在TCRδ链基因重排，而在所有分析病例中，Igκ、TCRβ以及TCRγ链基因均呈种系构型。我们的研究证实，ANLL婴儿中髓单核细胞和单核母细胞亚型的发生率很高，这与11号染色体异常尤其密切相关。然而，我们也观察到巨核母细胞白血病以及红白血病出现了意外的高频率。正如之前报道的婴儿急性淋巴细胞白血病一样，婴儿ANLL在表型和基因型特征方面也表现出类似的异质性。
