Cuneo A, Balboni M, Carli M G, Bigoni R, Roberti G, Pazzi I, Previati R, Castoldi G
Institute of Hematology, University of Ferrara, Italy.
Cancer Genet Cytogenet. 1994 Oct;77(1):33-8. doi: 10.1016/0165-4608(94)90145-7.
To study the cytologic profile and lineage involvement in acute myeloid leukemia (AML) with trisomy 11, cytologic, cytogenetic, and interphase cytogenetic studies were performed at presentation in two cases of acute myelomonocytic leukemia (AML-M4). Patient 1 had +11 as the sole chromosome aberration in 16/20 karyotypes whereas two related clones with +11 in all abnormal metaphases (14/18) were detected in patient 2. A proportion of interphase cells with three signals, comparable to the proportion of abnormal metaphases, was detected by fluorescent in situ hybridization (FISH) in these patients. Morphologic aberrations of the nonblast cell population affecting multiple cell lineages, along with a circulating minor megakaryoblastic component, were observed at diagnosis in both patients. By separation of bone marrow cells over a density gradient of Percoll two cell fractions were obtained, the former containing more than 80% erythroid precursors (collected at a density of 1065-1075 mg/ml), the latter containing more than 78% blast cells plus granulomonocytic precursors (collected at a density of 1060-1055 mg/ml). FISH documented the presence of a majority of interphase nuclei with three signals in the erythroblast-enriched cell fraction and in the blast-enriched cell fraction. It is concluded that cytologic features, as well as interphase cytogenetic findings on enriched cell fractions, suggest the occurrence of multipotent stem cell involvement in AML-M4 with +11.
为研究11号染色体三体急性髓系白血病（AML）的细胞特征和谱系受累情况，对2例急性粒单核细胞白血病（AML-M4）患者初诊时进行了细胞学、细胞遗传学和间期细胞遗传学研究。患者1在16/20个核型中，+11是唯一的染色体畸变，而在患者2中，在所有异常中期（14/18）均检测到两个带有+11的相关克隆。通过荧光原位杂交（FISH）在这些患者中检测到一定比例的间期细胞有三个信号，这一比例与异常中期的比例相当。在两名患者诊断时均观察到非原始细胞群体的形态学异常影响多个细胞谱系，同时伴有循环中的少量巨核母细胞成分。通过在Percoll密度梯度上分离骨髓细胞，获得了两个细胞组分，前者含有超过80%的红系前体细胞（收集密度为1065 - 1075 mg/ml），后者含有超过78%的原始细胞加粒单核系前体细胞（收集密度为1060 - 1055 mg/ml）。FISH证明在富含幼红细胞的细胞组分和富含原始细胞的细胞组分中，大多数间期核存在三个信号。结论是，细胞学特征以及富集细胞组分的间期细胞遗传学结果表明，在伴有+11的AML-M4中存在多能干细胞受累情况。
