多发性骨髓瘤中的p53基因突变
p53 gene mutations in multiple myeloma.
作者信息
Owen R G, Davis S A, Randerson J, Rawstron A C, Davies F, Child J A, Jack A S, Morgan G J
机构信息
Centre for Haematological Oncology, General Infirmary at Leeds.
出版信息
Mol Pathol. 1997 Feb;50(1):18-20. doi: 10.1136/mp.50.1.18.
AIM
To assess whether p53 gene mutation is important in the pathogenesis and progression of multiple myeloma.
METHODS
Thirty eight DNA samples (derived predominantly from bone marrow) obtained from 31 patients with multiple myeloma were examined for mutations in p53 exons 5-9 by polymerase chain reaction single strand conformation polymorphism. Twenty three samples were analysed at the time of diagnosis (one patient had plasma cell leukaemia), three in plateau phase, and 12 at relapse (one plasma cell leukaemia and one extramedullary relapse).
RESULTS
One p53 mutation was detected in this group of patients (3.2%). This was seen in the diagnostic bone marrow sample of a 35 year old man with stage IIA disease and occurred in exon 6 as a result of a silent A to G transition at codon 213 (CGA-->CGG), a polymorphism that has been reported in about 3% of breast and lung tumours.
CONCLUSIONS
p53 gene mutations are rare events in multiple myeloma and would seem to be of limited value as a prognostic factor.
目的
评估p53基因突变在多发性骨髓瘤的发病机制及病情进展中是否起重要作用。
方法
采用聚合酶链反应单链构象多态性技术，对31例多发性骨髓瘤患者的38份DNA样本（主要来自骨髓）进行p53基因第5至9外显子突变检测。其中23份样本在诊断时进行分析（1例为浆细胞白血病患者），3份在平台期分析，12份在复发时分析（1例浆细胞白血病和1例髓外复发）。
结果
该组患者中检测到1例p53突变（3.2%）。此突变见于1例35岁ⅡA期男性患者的诊断性骨髓样本中，发生在第6外显子，由密码子213处的沉默A到G转换（CGA→CGG）所致，这种多态性在约3%的乳腺和肺癌肿瘤中已有报道。
结论
p53基因突变在多发性骨髓瘤中是罕见事件，作为预后因素其价值似乎有限。
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