De Marchi Pedro, Berardinelli Gustavo Noriz, Cavagna Rodrigo de Oliveira, Pinto Icaro Alves, da Silva Flavio Augusto Ferreira, Duval da Silva Vinicius, Santana Iara Viana Vidigal, da Silva Eduardo Caetano Albino, Ferro Leal Leticia, Reis Rui Manuel
Department of Medical Oncology, Barretos Cancer Hospital, Barretos, Brazil.
Oncoclinicas, Rio de Janeiro, Brazil.
Pathobiology. 2022;89(2):101-106. doi: 10.1159/000520023. Epub 2021 Nov 15.
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.
This study aimed to evaluate the frequency of MSI in Brazilian NSCLC patients.
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.
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.
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.
非小细胞肺癌(NSCLC)中的微卫星不稳定性(MSI)并不常见;然而,大多数研究针对的是欧洲和亚洲人群。目前尚无关于高度混合人群中MSI频率的数据,例如以巴西NSCLC患者为代表的人群。
本研究旨在评估巴西NSCLC患者中MSI的频率。
我们评估了在巴西巴雷托斯癌症医院诊断为NSCLC的526例患者。通过聚合酶链反应,随后进行片段分析,使用六重标记面板进行分子MSI评估。MSI阳性病例的突变谱通过下一代测序进行。
仅1例患者MSI呈阳性(0.19%)。该患者为女性,白人,现仍吸烟,75岁时被诊断为临床IV期肺腺癌。分子谱显示有4种肿瘤蛋白p53(TP53)突变,且表皮生长因子受体(EGFR)、 Kirsten大鼠肉瘤病毒癌基因同源物(KRAS)或V-Raf鼠肉瘤病毒癌基因同源物B1(BRAF)基因中无可操作的突变。
巴西NSCLC患者中MSI的频率同样罕见,这一发现与基于欧洲人、北美人和亚洲人等其他人群的现有文献一致。