在一例晚期非小细胞肺癌患者中，使用痰液细胞学通过新型二代测序肺癌检测组合诊断试剂盒检测到EML4-ALK基因突变
EML4-ALK Gene Mutation Detected with New NGS Lung Cancer Panel CDx Using Sputum Cytology in a Case of Advanced NSCLC.
作者信息
Morikawa Kei, Kinoshita Kohei, Matsuzawa Shin, Kida Hirotaka, Handa Hiroshi, Inoue Takeo, Nakamura Seiji, Sato Yoshiharu, Mineshita Masamichi
机构信息
Division of Respiratory Diseases, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki 216-8511, Japan.
DNA Chip Research Inc., Tokyo 105-0022, Japan.
出版信息
Diagnostics (Basel). 2023 Jul 10;13(14):2327. doi: 10.3390/diagnostics13142327.
The detection of driver gene mutations has become essential for lung cancer; however, insufficient sample sizes make gene panel tests difficult to use. We previously reported that the lung cancer compact panel TM (LCCP) could detect EGFR and MET gene mutations with sputum cytology. To date, the detection of gene mutation using RNA from sputum samples is considered practically difficult. We report a case in which the EML4-ALK fusion gene was successfully detected from a sputum sample using the LCCP that was just released in Japan as a new next-generation sequencing lung cancer panel, CDx.
驱动基因突变的检测已成为肺癌诊断的关键环节；然而，样本量不足使得基因检测面板难以应用。我们之前报道过肺癌紧凑型检测面板TM（LCCP）可通过痰液细胞学检测EGFR和MET基因突变。迄今为止，从痰液样本RNA中检测基因突变在实际操作中仍颇具难度。我们报告了一个病例，使用在日本刚刚作为新一代测序肺癌检测面板CDx发布的LCCP，成功从痰液样本中检测到EML4-ALK融合基因。
Zotero 插件