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黎巴嫩人群黑色素瘤和结直肠癌中BRAF V600E基因突变的发生率:一项2010年至2019年的回顾性研究

Incidence of BRAF V600E Gene Mutation Among Lebanese Population in Melanoma and Colorectal Cancer: A Retrospective Study Between 2010 and 2019.

作者信息

Masri Rim, Al Housseiny Amani, Aftimos George, Bitar Nizar

机构信息

Internal Medicine, Lebanese University Faculty of Medicine, Beirut, LBN.

General Medicine, Lebanese University Faculty of Medicine, Beirut, LBN.

出版信息

Cureus. 2022 Sep 19;14(9):e29315. doi: 10.7759/cureus.29315. eCollection 2022 Sep.

Abstract

INTRODUCTION

Cancers arise owing to the accumulation of mutations in critical genes that leads to uncontrolled cell division and the avoidance of apoptosis. Among these oncogenes, BRAF is a potent mitogen-activated protein kinase (MAPK) pathway activator known to be somatically mutated by a glutamic acid to valine substitution at codon 600 (V600E). It is a common finding in various types of human cancers, including malignant melanoma and colorectal cancer (CRC), and is considered a poor prognostic factor and a predictive biomarker. The study aims to determine the incidence of BRAF V600E gene mutation in Lebanese patients with melanoma and CRC and its correlation with gender and age.

METHODS

We conducted a retrospective cohort design study in which 210 and 132 patients diagnosed to have melanoma and CRC, respectively, were recruited from 2010 to 2019 from "L'Institut National de Pathologie," where a specific polymerase chain reaction is used to detect BRAF mutations. Data from digitized records were collected, including demographic characteristics (age and gender), cancer type, and BRAF mutation. The collected data were analyzed using SPSS Statistics version 20.0 (IBM Corp., Armonk, NY). A p-value < 0.05 was considered significant.

RESULTS

The incidence of BRAF mutation in melanoma is 88.10%. There is female predominance with a ratio of 2.6:1 (p = 0.240) and the majority of patients aged between 40 and 60 years (51.2%) with a mean age of 53.74 years. While in CRC, BRAF is mutated in 7.5% with a ratio of 1.2:1 of male predominance (p = 0.999). The majority of patients (54.8%) were between the ages of 60 and 80 years, with a mean age of 65.5 years.

CONCLUSION

BRAF is a frequent oncogenic mutation that is found in lethal tumors. Targeted therapies for these cancers interfere with developing more effective therapeutic strategies, which affect the treatment response in BRAF mutants and improve the prognosis of the patients.

摘要

引言

癌症是由于关键基因中的突变积累导致细胞不受控制地分裂并逃避凋亡而产生的。在这些致癌基因中,BRAF是一种有效的丝裂原活化蛋白激酶(MAPK)途径激活剂,已知其在第600位密码子处发生谷氨酸到缬氨酸的体细胞突变(V600E)。它在包括恶性黑色素瘤和结直肠癌(CRC)在内的各种人类癌症中很常见,被认为是一个不良预后因素和预测性生物标志物。本研究旨在确定黎巴嫩黑色素瘤和CRC患者中BRAF V600E基因突变的发生率及其与性别和年龄的相关性。

方法

我们进行了一项回顾性队列设计研究,分别从2010年至2019年从“国家病理研究所”招募了210例诊断为黑色素瘤的患者和132例诊断为CRC的患者,在该研究所使用特定的聚合酶链反应来检测BRAF突变。收集数字化记录中的数据,包括人口统计学特征(年龄和性别)、癌症类型和BRAF突变。使用SPSS Statistics 20.0版(IBM公司,纽约州阿蒙克)对收集的数据进行分析。p值<0.05被认为具有统计学意义。

结果

黑色素瘤中BRAF突变的发生率为88.10%。女性占优势,比例为2.6:1(p = 0.240),大多数患者年龄在40至60岁之间(51.2%),平均年龄为53.74岁。而在CRC中,BRAF突变率为7.5%,男性占优势,比例为1.2:1(p = 0.999)。大多数患者(54.8%)年龄在60至80岁之间,平均年龄为65.5岁。

结论

BRAF是一种在致命肿瘤中常见得致癌突变。针对这些癌症的靶向治疗干扰了更有效的治疗策略的开发,这影响了BRAF突变体的治疗反应并改善了患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9786/9580600/1cd3abb58d43/cureus-0014-00000029315-i01.jpg

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