Microsatellite Instability Is Rare in the Admixed Brazilian Population of Non-Small Cell Lung Cancer: A Cohort of 526 Cases.

Pedro De Marchi, Gustavo Noriz Berardinelli, Rodrigo de Oliveira Cavagna, Icaro Alves Pinto, Flavio Augusto Ferreira da Silva, Vinicius Duval da Silva, Iara Viana Vidigal Santana, Eduardo Caetano Albino da Silva, Leticia Ferro Leal, Rui Manuel Reis
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引用次数: 8

Abstract

Background: Microsatellite instability (MSI) in non-small cell lung cancer (NSCLC) is uncommon; however, most studies refer to European and Asian populations. There are currently no data on MSI frequency in highly admixed populations, such as the one represented by Brazilian NSCLC patients.

Aim: This study aimed to evaluate the frequency of MSI in Brazilian NSCLC patients.

Methods: We evaluated 526 patients diagnosed with NSCLC at the Barretos Cancer Hospital (Brazil). The molecular MSI evaluation was performed using a hexa-plex marker panel by polymerase chain reaction followed by fragment analysis. The mutation profile of MSI-positive cases was performed using next-generation sequencing.

Results: Only 1 patient was MSI positive (0.19%). This patient was a female, white, and active smoker, and she was diagnosed with clinical stage IV lung adenocarcinoma at 75 years old. The molecular profile exhibited 4 Tumor Protein p53 (TP53) mutations and the absence of actionable mutations in the Epidermal Growth Factor Receptor (EGFR), Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS), or V-Raf Murine Sarcoma Viral Oncogene Homolog B1 (BRAF) genes.

Conclusions: The frequency of MSI in Brazilian NSCLC patients is equally rare, a finding that is consistent with the current literature based on other populations such as Europeans, North Americans, and Asians.

微卫星不稳定性在巴西非小细胞肺癌混合人群中很少见:一项526例队列研究
背景:微卫星不稳定性(Microsatellite instability, MSI)在非小细胞肺癌(NSCLC)中并不常见;然而,大多数研究涉及欧洲和亚洲人群。目前在高度混合的人群中没有MSI频率的数据,例如以巴西NSCLC患者为代表的人群。目的:本研究旨在评估巴西NSCLC患者中MSI的发生率。方法:我们评估了巴西巴雷托斯肿瘤医院诊断为非小细胞肺癌的526例患者。分子MSI评价采用聚合酶链反应和片段分析,采用六plex标记面板。msi阳性病例的突变谱通过下一代测序进行。结果:MSI阳性1例(0.19%)。该患者为女性,白人,吸烟频繁,75岁时被诊断为临床IV期肺腺癌。分子图谱显示4个肿瘤蛋白p53 (TP53)突变,表皮生长因子受体(EGFR)、Kirsten大鼠肉瘤病毒癌基因同源物(KRAS)或V-Raf小鼠肉瘤病毒癌基因同源物B1 (BRAF)基因中缺乏可操作的突变。结论:巴西NSCLC患者中MSI的发生率同样罕见,这一发现与目前基于其他人群(如欧洲、北美和亚洲)的文献一致。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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