Sherer M E, Shekhter-Levin S, Krause J R, Joyce R A, Gollin S M
Department of Human Genetics, Univeristy of Pittsburgh, Pennsylvania.
Cancer Genet Cytogenet. 1991 Dec;57(2):169-73. doi: 10.1016/0165-4608(91)90148-n.
Chromosome studies were carried out after a 24-hour harvest of unstimulated bone marrow aspirate cell cultures from a 75-year-old male with a clinical diagnosis of acute myelomonocytic leukemia (FAB M4). Analysis of nine cells after trypsin-Giemsa banding (GTG) revealed two cell lines with a mosaic chromosome pattern, 46,XY/46,XY,t(7;19)(q22;p13.3). A review of the recent literature reveals one case of childhood ALL with a 46,XY/46,XY,t(7;19)(q11;q13) chromosome pattern [1] and a 46,XY,t(3q;11q),t(7q;19p),t(15;17)(q26;q22) in one patient with ANLL (FAB M3) [2]. The t(7;19)(q22;p13.3) seen in our case has not been reported as the sole specific clonal chromosome rearrangement in myeloid neoplasia. Interestingly, the plasminogen activator inhibitor type I, multi-drug resistance, and erythropoietin genes are located at band 7q22 and the insulin receptor gene is located at band 19p13.3. Both sites contain fragile site loci. The possible role of these fragile sites, genes, or other genes in the rearrangement can only be surmised.
对一名75岁临床诊断为急性粒单核细胞白血病（FAB M4型）男性患者未受刺激的骨髓穿刺细胞培养物进行24小时收获后，开展了染色体研究。经胰蛋白酶-吉姆萨显带（GTG）分析九个细胞，发现两个细胞系呈现嵌合染色体模式，即46,XY/46,XY,t(7;19)(q22;p13.3)。查阅近期文献发现，有一例儿童急性淋巴细胞白血病呈现46,XY/46,XY,t(7;19)(q11;q13)染色体模式[1]，还有一名急性非淋巴细胞白血病（FAB M3型）患者呈现46,XY,t(3q;11q),t(7q;19p),t(15;17)(q26;q22)[2]。我们病例中所见的t(7;19)(q22;p13.3)尚未作为髓系肿瘤中唯一特定的克隆染色体重排被报道。有趣的是，纤溶酶原激活物抑制剂I型、多药耐药和促红细胞生成素基因位于7q22带，胰岛素受体基因位于19p13.3带。这两个位点均含有脆性位点基因座。这些脆性位点、基因或其他基因在重排中可能发挥的作用只能进行推测。
