慢性淋巴细胞白血病患者中 TP53 基因突变的频率。

Frequency Of TP53 Gene Mutation In Patients With Chronic Lymphocytic Leukaemia.

机构信息

Section of Haematology, Department of Pathology, Dow University of Health Sciences, Karachi, Pakistan.

Jinnah Post Graduate Medical Center, Karachi, Pakistan.

出版信息

J Ayub Med Coll Abbottabad. 2020 Oct-Dec;32(4):523-526.

PMID:33225656

Abstract

BACKGROUND

Chronic lymphocytic leukaemia (CLL), an indolent but malignant lymphoproliferative disorder, is characterized by unregulated and uninhibited growth of mature monoclonal lymphocytes, with deletion of 17p containing TP53 gene being the most important prognostic factor. TP53 mutations, reported in 10% of CLL cases, seem to have a direct correlation to a more advanced stage and aggressive transformation of CLL.

METHODS

This was a retrospective cross-sectional descriptive study limited to a period from 1st June 2013 to 30th June 2016, conducted at Section of haematology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi. One thirty-nine cases of CLL received for TP53 mutation analysis at the Aga Khan University hospital clinical Laboratory were included in the study. Five ml of whole blood or one ml of bone marrow aspirate sample in EDTA tube was collected for the detection of TP53 mutation by the FISH technique. Statistical package for social sciences 21 was used for data entry and analysis.

RESULTS

Of the 139 chronic lymphocytic leukaemia patients, 43 (31%) were females and 96 (69%) were males. The mean age of all patients was 56.3±10.84 years. Tp53 gene mutation in patients with chronic lymphocytic leukaemia was found only in 19(13.7%) patients. Among these patients 15 (10.9%) were male and 04(2.9%) were females. Age and gender were not statistically significant with Tp53 mutation with a p-value > 0.05 at a 95% confidence interval.

CONCLUSIONS

In a cohort of Pakistani patients with Chronic lymphocytic leukaemia, TP53 gene mutation was found in 19 (13.7%).

摘要

背景

慢性淋巴细胞白血病（CLL）是一种惰性但恶性的淋巴细胞增生性疾病，其特征是成熟单克隆淋巴细胞不受控制和不受抑制的生长，17p 缺失含有 TP53 基因是最重要的预后因素。TP53 突变在 10%的 CLL 病例中被报道，似乎与 CLL 的更晚期和更具侵袭性的转化有直接相关性。

方法

这是一项回顾性横断面描述性研究，仅限于 2013 年 6 月 1 日至 2016 年 6 月 30 日期间，在卡拉奇 Aga Khan 大学医院病理学和检验科血液科进行。在 Aga Khan 大学医院临床实验室对 139 例 CLL 患者进行了 TP53 突变分析，这些患者均纳入本研究。采集 5ml 全血或 1ml EDTA 管中的骨髓抽吸样本，采用 FISH 技术检测 TP53 突变。使用社会科学统计软件包 21 进行数据录入和分析。

结果

在 139 例慢性淋巴细胞白血病患者中，43 例（31%）为女性，96 例（69%）为男性。所有患者的平均年龄为 56.3±10.84 岁。在慢性淋巴细胞白血病患者中仅发现 19 例（13.7%）患者存在 Tp53 基因突变。这些患者中，15 例（10.9%）为男性，4 例（2.9%）为女性。年龄和性别与 Tp53 突变无统计学意义，95%置信区间的 p 值>0.05。