TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis
TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis
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DOI：
10.1111/bjh.12203
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发表时间：
2013-03-01
影响因子：
6.5
通讯作者：
Mufti, Ghulam J.
中科院分区：
文献类型：
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作者：
Kulasekararaj, Austin G.;Smith, Alexander E.;Mufti, Ghulam J.
本研究旨在确定318例骨髓增生异常综合征（MDS）患者TP 53突变的发生率/预后影响，并将这些变化与细胞遗传学、单核苷酸多态性阵列核型分析和临床结局相关联。中位年龄为65岁（1789岁），中位随访时间为45个月[95%置信区间（CI）2762个月]。TP 53突变发生在30例（9例中心点4%）患者中，仅发生在孤立的del 5 q（19%）和复杂核型（CK）中，-5/5q-（72%），与国际预后评分系统中-2/高，TP 53蛋白表达，较高的原始细胞计数和白血病进展相关。突变型TP 53患者在其他与骨髓恶性肿瘤有关的基因中缺乏突变。TP 53突变患者的中位总生存期短于野生型（9个月对66个月，P
This study aimed to determine the incidence/prognostic impact of TP53 mutation in 318 myelodysplastic syndrome (MDS) patients, and to correlate the changes to cytogenetics, single nucleotide polymorphism array karyotyping and clinical outcome. The median age was 65years (1789years) and median follow-up was 45months [95% confidence interval (CI) 2762months]. TP53 mutations occurred in 30 (9 center dot 4%) patients, exclusively in isolated del5q (19%) and complex karyotype (CK) with -5/5q-(72%), correlated with International Prognostic Scoring System intermediate-2/high, TP53 protein expression, higher blast count and leukaemic progression. Patients with mutant TP53 had a paucity of mutations in other genes implicated in myeloid malignancies. Median overall survival of patients with TP53 mutation was shorter than wild-type (9 versus 66months, P