[慢性淋巴细胞白血病中的TP53突变分析]
[TP53 mutation analysis in chronic lymphocytic leukaemia].
作者信息
Fésüs Viktória, Marosvári Dóra, Kajtár Béla, Király Péter Attila, Demeter Judit, Gurbity Pálfi Tímea, Egyed Miklós, Plander Márk, Farkas Péter, Mátrai Zoltán, Matolcsy András, Bödör Csaba
机构信息
I. Patológiai és Kísérleti Rákkutató Intézet, Magyar Tudományos Akadémia-Semmelweis Egyetem Lendület Molekuláris Onkohematológia Kutatócsoport, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Üllői út 26., 1085.
Patológiai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs.
出版信息
Orv Hetil. 2017 Feb;158(6):220-228. doi: 10.1556/650.2017.30656.
INTRODUCTION
In recent years much progress has been made in the therapy of chronic lymphocytic leukaemia, as the new innovative medicine proved to be effective in managing patients carrying TP53 abnormalities. To identify all these patients, it is essential to screen for both forms of TP53 defects, including both 17p deletions and TP53 mutations.
AIM
The aim of this study was to determine the frequency of TP53 mutations and their association with 17p deletions in a large Hungarian cohort of 196 patients suffering from chronic lymphocytic leukaemia.
METHOD
We performed mutation analysis of TP53 (exons 3-10) using Sanger sequencing.
RESULTS
TP53 mutations were present in 15.8% of patients, half of which were associated with 17p deletion. By analysing both forms, TP53 defect was identified in 25.4% of the patients.
CONCLUSIONS
Our study demonstrates that by performing a TP53 mutation analysis, an additional 10% of high-risk patients can be detected. Orv. Hetil., 2017, 158(6), 220-228.
引言
近年来，慢性淋巴细胞白血病的治疗取得了很大进展，因为新型创新药物在治疗携带TP53异常的患者方面被证明是有效的。为了识别所有这些患者，筛查TP53缺陷的两种形式至关重要，包括17p缺失和TP53突变。
目的
本研究的目的是确定匈牙利一个由196例慢性淋巴细胞白血病患者组成的大型队列中TP53突变的频率及其与17p缺失的关联。
方法
我们使用桑格测序法对TP53（外显子3 - 10）进行突变分析。
结果
15.8%的患者存在TP53突变，其中一半与17p缺失相关。通过分析这两种形式，25.4%的患者被发现存在TP53缺陷。
结论
我们的研究表明，通过进行TP53突变分析，可以检测出另外10%的高危患者。《匈牙利医学周报》，2017年，158(6)，220 - 228。
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