A. Iaccarino, P. Pisapia, M. De Felice, F. Pepe, Gianluca Gragnano, C. De Luca, G. Ianniello, U. Malapelle
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引用次数: 1
摘要
2020年7月,一名63岁的活跃吸烟者住进了A.O.R.N. Sant 'Anna e San Sebastiano(意大利卡塞塔)的肿瘤科。胸部x线显示右侧胸腔积液。全身CT扫描显示右上肺叶顶端段呈分叶状实性病灶。患者的肿瘤学家要求进行EGFR、ALK、ROS1、BRAF和KRAS的分子评估,以及PD-L1表达水平的评估。为此,我们采用定制的NGS面板(SiRe®)对从细胞自旋中提取的DNA进行了NGS分析。总的来说,在测试基因中没有发现可操作的突变。相反,同时检测到BRAF外显子11 p.G469A和KRAS外显子4 p.A146T突变。由于肺腺癌患者中存在KRAS外显子4 p.A146T点突变的数据有限,因此使用专用的KRAS试剂盒在全自动实时聚合酶链反应上进行了进一步的分子验证分析。当从TTF-1阳性肿瘤细胞切片中提取DNA时,观察到相同的KRAS改变。不幸的是,该患者在2020年8月去世,还没有机会开始任何类型的治疗。
Concomitant Rare KRAS and BRAF Mutations in Lung Adenocarcinoma: A Case Report
In July 2020, an active smoker, 63-year old man was admitted to the oncology unit of A.O.R.N. Sant’Anna e San Sebastiano (Caserta, Italy). Chest radiology highlighted right pleural effusion. Total-body CT scanning revealed a solid lesion with lobulated contours in the apical segment of the upper right lobe. The patient’s oncologist requested a molecular assessment of EGFR, ALK, ROS1, BRAF, and KRAS, as well as an evaluation of PD-L1 expression level. To this end, we carried out NGS analysis, on DNA extracted from cytospins, by adopting a custom-designed NGS panel (SiRe®). Overall, no actionable mutations in the tested genes were identified. Conversely, concomitant BRAF exon 11 p.G469A and a KRAS exon 4 p.A146T mutations were detected. Owing to the limited data on the presence of KRAS exon 4 p.A146T point mutation in lung adenocarcinoma patients, a further molecular confirmatory analysis was carried out with a dedicated KRAS cartridge on a fully automated real time polymerase chain reaction. When DNA was extracted from the TTF-1 positive tumor cell slide, the same KRAS alteration was observed. Unfortunately, the patient died in August 2020 before having the chance to start any type of treatment.