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急性髓性白血病中p53基因突变的分析:与17号染色体缺失相关的p53基因突变

Analysis of the p53 gene mutations in acute myelogenous leukemia: the p53 gene mutations associated with a deletion of chromosome 17.

作者信息

Kurosawa M, Okabe M, Kunieda Y, Asaka M

机构信息

Third Department of Internal Medicine, Hokkaido University School of Medicine, Sapporo, Japan.

出版信息

Ann Hematol. 1995 Aug;71(2):83-7. doi: 10.1007/BF01699251.

DOI:10.1007/BF01699251
PMID:7654857
Abstract

In order to determine the relevance of the p53 tumor suppressor gene mutations in acute myelogenous leukemia (AML), we analyzed the p53 gene in genomic DNA of 18 unselected cases of AML by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and direct sequencing. We detected three cases (16.7%) with the p53 gene mutations showing only the mutant alleles; the high incidence in cases with loss of a whole chromosome 17 (two of three) contrasted with the low incidence in cases without abnormalities of chromosome 17 (one of 15). These cases containing the mutations of the p53 gene showed a poor prognosis. Although we analyzed a rather small series of patients, these findings suggest that the p53 gene mutations might be involved in the progression and prognosis of at least some cases of AML.

摘要

为了确定p53肿瘤抑制基因突变在急性髓性白血病(AML)中的相关性,我们通过聚合酶链反应-单链构象多态性(PCR-SSCP)和直接测序分析了18例未经选择的AML病例基因组DNA中的p53基因。我们检测到3例(16.7%)p53基因突变,仅显示突变等位基因;17号整条染色体缺失的病例中突变发生率高(3例中有2例),而17号染色体无异常的病例中突变发生率低(15例中有1例)。这些含有p53基因突变的病例预后较差。尽管我们分析的患者系列相对较小,但这些发现表明p53基因突变可能至少在某些AML病例的进展和预后中起作用。

相似文献

1
Analysis of the p53 gene mutations in acute myelogenous leukemia: the p53 gene mutations associated with a deletion of chromosome 17.急性髓性白血病中p53基因突变的分析:与17号染色体缺失相关的p53基因突变
Ann Hematol. 1995 Aug;71(2):83-7. doi: 10.1007/BF01699251.
2
p53 gene mutations with chromosome 17 abnormalities in chronic myelogenous leukemia blast crisis patients persist in long-term cell lines but may be acquired in acute myeloid leukemia cells in vitro.慢性粒细胞白血病急变期患者中伴有17号染色体异常的p53基因突变在长期细胞系中持续存在,但在体外可能是急性髓系白血病细胞中获得的。
Cancer Genet Cytogenet. 1995 Jul 1;82(1):35-40. doi: 10.1016/0165-4608(94)00282-g.
3
Mutations with loss of heterozygosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis.p53杂合性缺失的突变在接触烷化剂后的治疗相关骨髓增生异常综合征和急性髓系白血病中很常见,并且与5q缺失或丢失、复杂核型以及不良预后显著相关。
J Clin Oncol. 2001 Mar 1;19(5):1405-13. doi: 10.1200/JCO.2001.19.5.1405.
4
P53 gene mutations in acute myeloid leukemia with 17p monosomy.伴有17号染色体短臂单体型的急性髓系白血病中的P53基因突变
Blood. 1991 Oct 1;78(7):1652-7.
5
p53 gene mutations and loss of a chromosome 17p in Philadelphia chromosome (Ph1)-positive acute leukemia.费城染色体(Ph1)阳性急性白血病中的p53基因突变及17号染色体短臂缺失
Leukemia. 1993 Oct;7(10):1547-51.
6
Frequent p53 gene mutations in blast crisis of chronic myelogenous leukemia, especially in myeloid crisis harboring loss of a chromosome 17p.慢性粒细胞白血病急变期,尤其是伴有17号染色体短臂缺失的髓系急变期,常出现p53基因突变。
Cancer Res. 1992 Dec 1;52(23):6588-93.
7
P53 gene mutations in acute myelogenous leukaemia.急性髓性白血病中的P53基因突变
Br J Haematol. 1992 Aug;81(4):489-94. doi: 10.1111/j.1365-2141.1992.tb02979.x.
8
[Molecular study on minute alterations of the p53 and the N-ras genes in hematologic malignancies].[血液系统恶性肿瘤中p53和N-ras基因微小改变的分子研究]
Hokkaido Igaku Zasshi. 1994 May;69(3):543-54.
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Detection of p53 mutations in hematological malignancies: comparison between immunocytochemistry and DNA analysis.血液系统恶性肿瘤中p53突变的检测:免疫细胞化学与DNA分析的比较
Leukemia. 1994 Aug;8(8):1342-9.
10
Abnormalities of the P53, MDM2, BCL2 and BAX genes in acute leukemias.急性白血病中P53、MDM2、BCL2和BAX基因的异常。
Neoplasma. 2005;52(4):318-24.

引用本文的文献

1
Acquired, nonrandom chromosomal abnormalities associated with the development of acute promyelocytic leukemia in transgenic mice.与转基因小鼠急性早幼粒细胞白血病发生相关的后天性、非随机性染色体异常。
Proc Natl Acad Sci U S A. 2000 Nov 21;97(24):13306-11. doi: 10.1073/pnas.97.24.13306.

本文引用的文献

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p53 gene mutations in multiple myeloma are associated with advanced forms of malignancy.
Blood. 1993 Jan 1;81(1):128-35.
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p53-dependent apoptosis modulates the cytotoxicity of anticancer agents.p53 依赖性凋亡调节抗癌药物的细胞毒性。
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Alterations in the p53 gene and the clonal evolution of the blast crisis of chronic myelocytic leukemia.p53基因改变与慢性粒细胞白血病急变期的克隆进化
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