Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma
Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma
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DOI：
10.3324/haematol.2010.023697
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发表时间：
2010-11-01
期刊：
影响因子：
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通讯作者：
Avet-Loiseau, Herve
中科院分区：
文献类型：
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作者：
Lode, Laurence;Eveillard, Marion;Avet-Loiseau, Herve
17p13 染色体区域 [del(17p)] 的缺失与多发性骨髓瘤的不良预后相关。大多数研究都针对TP53基因进行缺失分析，尽管没有研究表明该基因是缺失目标。为了解决这个问题，我们对 92 名诊断时多发性骨髓瘤患者的 TP53 基因进行了测序，其中 54 名患者存在 del(17p)，38 名患者缺乏 del(17p)。在 20 名患者中至少发现一种突变，所有患者均出现 del(17p)。对突变位置的分析表明，几乎所有突变都发生在涉及 DNA-蛋白质相互作用的高度保守的结构域中。总之，我们发现有 del(17p) 的骨髓瘤患者中有 37% 存在 TP53 突变，而缺乏 del(17p) 的骨髓瘤患者中这一比例为 0%。这些突变的预后意义仍有待评估。
Deletion of the 17p13 chromosomal region [del(17p)] is associated with a poor outcome in multiple myeloma. Most of the studies have targeted the TP53 gene for deletion analyses, although no study showed that this gene is the deletion target. In order to address this issue, we sequenced the TP53 gene in 92 patients with multiple myeloma at diagnosis, 54 with a del(17p) and 38 lacking del(17p). At least one mutation was found in 20 patients, all of them presenting a del(17p). The analysis of the mutation location showed that virtually all of them occurred in highly conserved domains involved in the DNA-protein interactions. In conclusion, we showed that 37% of the myeloma patients with del(17p) present a TP53 mutation versus 0% in patients lacking the del(17p). The prognostic significance of these mutations remains to be evaluated.