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TP53 与 CLL 诊断的相关性。

Relevance of TP53 for CLL diagnostics.

机构信息

Haematology Department, Belfast Health and Social Care Trust, Belfast, UK

Centre for Cancer Research and Cell Biology (CCRCB), Queen's University Belfast, Belfast, UK.

出版信息

J Clin Pathol. 2019 May;72(5):343-346. doi: 10.1136/jclinpath-2018-205622. Epub 2019 Feb 2.

Abstract

disruption in chronic lymphocytic leukaemia (CLL) is a well-established prognostic marker and informs on the appropriate course of treatment for patients. status is commonly assessed by fluorescence in situ hybridisation for del(17 p) and Sanger sequencing for mutations. At present, current screening methods for mutations fail to detect diagnostically relevant mutations potentially leading to inappropriate treatment decisions. In addition, low levels of mutations that are proving to be clinically relevant may not be discovered with current less sensitive techniques. This review describes the structure, function and regulation of the TP53 protein, the mutations found in cancer and CLL, the relevance of disruption in CLL and the current screening methods for mutations including next-generation sequencing.

摘要

在慢性淋巴细胞白血病 (CLL) 中,突变是一个既定的预后标志物,可指导患者的治疗方案。 突变状态通常通过荧光原位杂交检测 del(17p)和 Sanger 测序检测 突变来评估。目前, 突变的现有筛查方法无法检测到潜在导致治疗决策不当的诊断相关突变。此外,目前不太敏感的技术可能无法发现具有临床相关性的低水平突变。本文综述了 TP53 蛋白的结构、功能和调节,癌症和 CLL 中发现的突变,CLL 中 突变的相关性以及 突变的当前筛查方法,包括下一代测序。

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