Department of Respiratory Medicine, Himeji Saint Mary's Hospital, Himeji, Japan.
Department of Respiratory Medicine, Hosoya Hospital, Ibara, Japan.
Thorac Cancer. 2022 Jun;13(11):1735-1738. doi: 10.1111/1759-7714.14439. Epub 2022 May 12.
Here, we report a case of a pulmonary invasive mucinous adenocarcinoma harboring KRAS G12D, diagnosed from tumor samples containing a very small amount of tumor cells using next-generation sequencing (NGS) and the recently developed Lung Cancer Compact Panel. A 79-year-old woman without any respiratory symptoms underwent chest computed tomography, which revealed a tumor in the left lower lobe. During endobronchial ultrasound (EBUS)-guided transbronchial biopsy (TBB) using a guide sheath (GS), a sufficient specimen for pathological diagnosis could not be obtained because the patient had a severe cough and pulmonary bullae located adjacent to the tumor. In the absence of EBUS transbronchial biopsy findings using a guide sheath, brush cytology was used to categorize the tumor as class II (Papanicolaou classification). However, the wash fluid from the cytological examination contained enough cells to obtain sufficient nucleic acid for use in sequencing analysis. The latter revealed KRAS G12D expression. Although the patient underwent surgery without pathological evidence, the evaluation of the surgical specimen confirmed a diagnosis of pulmonary invasive mucinous adenocarcinoma. Use of the Lung Cancer Compact Panel enabled the detection of KRAS G12D in the wash fluid of a brush cytology sample and thus a diagnosis of pulmonary invasive mucinous adenocarcinoma.
在这里,我们报告了一例肺浸润性黏液性腺癌,该肿瘤携带有 KRAS G12D 基因突变,使用下一代测序(NGS)和最近开发的肺癌精简 panel 从含有极少量肿瘤细胞的肿瘤样本中诊断出来。一名 79 岁女性无任何呼吸系统症状,行胸部 CT 检查发现左肺下叶有一肿瘤。在使用引导鞘(GS)进行支气管内超声(EBUS)引导下经支气管活检(TBB)时,由于患者剧烈咳嗽且肿瘤毗邻肺大疱,无法获得足够用于病理诊断的标本。在没有使用引导鞘的 EBUS 经支气管活检结果的情况下,使用刷检细胞学将肿瘤分类为 II 级(巴氏分类)。然而,细胞学检查的洗液中含有足够的细胞,可以获得足够的核酸进行测序分析。后者显示 KRAS G12D 表达。尽管患者在没有病理证据的情况下进行了手术,但对手术标本的评估证实了肺浸润性黏液性腺癌的诊断。使用肺癌精简 panel 能够在刷检细胞学样本的洗液中检测到 KRAS G12D,从而诊断为肺浸润性黏液性腺癌。