Gandini D, Cuneo A, Carli M G, Lanza F, Castoldi G L, del Senno L
Centro Studi Biochimici delle Patologie del Genoma Umano, Ferrara, Italy.
Leuk Res. 1994 Jan;18(1):63-5. doi: 10.1016/0145-2126(94)90011-6.
Mutations of the p53 tumour suppressor gene on chromosome 17p are a common genetic change in the malignant progression of many cancers. Here we report a case of a 71-year-old man with haematological, cytofluorimetric and cytochemical findings consistent with a 'de novo' M2 acute myeloid leukaemia (AML). A complex karyotype including a whole chromosome 17 and a t(17;?) (p11;?) was present in 8 of 10 metaphases of bone marrow cells. Southern blot analysis of the bone marrow DNA showed a specific loss of p53 gene in the AML cells. As far as we know, this is the first report of a deletion of both p53 alleles in leukaemia. The effect of the loss of p53 on the course of AML is discussed.
位于17号染色体短臂上的p53肿瘤抑制基因突变是许多癌症恶性进展过程中常见的基因改变。在此，我们报告一例71岁男性患者，其血液学、细胞荧光分析和细胞化学检查结果符合“原发”M2型急性髓细胞白血病（AML）。在骨髓细胞的10个中期细胞中有8个出现了复杂核型，包括一条完整的17号染色体和一个t(17;?)（p11;?）。对骨髓DNA进行的Southern印迹分析显示AML细胞中p53基因存在特异性缺失。据我们所知，这是白血病中两个p53等位基因均缺失的首例报告。本文还讨论了p53缺失对AML病程的影响。
