Bae Go Eun, Kim Seok-Hwan, Choi Min Kyung, Kim Jin-Man, Yeo Min-Kyung
Department of Pathology, Chungnam National University School of Medicine, Daejeon, South Korea.
Department of Surgery, Chungnam National University School of Medicine, Daejeon, South Korea.
Front Oncol. 2021 Jul 15;11:712754. doi: 10.3389/fonc.2021.712754. eCollection 2021.
Cytology from gastrointestinal (GI) cancers is frequently obtained from ascites and peritoneal washing fluids. Examination of ascites and peritoneal washing fluids from patients with GI cancers can help in the tumor staging and prognosis. Tumor-derived DNA in these cytology samples can be a target for next generation sequencing (NGS). Targeted NGS was evaluated in ascites and peritoneal washing samples obtained from 33 patients with GI cancers. These sequences were compared with those from tumor tissue samples, and correlated with cytopathologic findings of the ascites and peritoneal fluid samples. The correlation between fluid and tissue genotyping results was 25%, with a sensitivity of 21.43%. The volume of tumor contained within the fluid samples was low, ranging from ~0 to 10%. Importantly, the sensitivity of detection of somatic mutations in the fluid samples could be increased to 69.2% by assessing samples containing >2% tumor volume. Evaluation of cells from ascitic fluid showed the presence of KRAS, TP53, and CDH1 mutations in 33, 13, and 7%, respectively, of patients with pancreatic cancer, and the presence of KRAS, TP53, and APC mutations in 25, 12, and 13%, respectively, of patients with gastric cancer. Ascites of one of the latter patients acquired KRAS mutation, which was a novel mutation during metastasis. Targeted NGS of ascites and peritoneal washing fluid have clinical implications, as well as limitations, in patients with GI cancers. NGS-based cytology examination may expand cytomolecular practices in GI cancer patients.
胃肠道（GI）癌的细胞学样本通常取自腹水和腹腔冲洗液。对GI癌患者的腹水和腹腔冲洗液进行检查有助于肿瘤分期和预后评估。这些细胞学样本中肿瘤来源的DNA可作为下一代测序（NGS）的靶点。对33例GI癌患者的腹水和腹腔冲洗样本进行了靶向NGS评估。将这些序列与肿瘤组织样本的序列进行比较，并与腹水和腹腔液样本的细胞病理学结果相关联。液体与组织基因分型结果之间的相关性为25%，敏感性为21.43%。液体样本中所含肿瘤的体积较低，范围约为0%至10%。重要的是，通过评估肿瘤体积>2%的样本，液体样本中体细胞突变的检测敏感性可提高至69.2%。对腹水细胞的评估显示，胰腺癌患者中分别有33%、13%和7%存在KRAS、TP53和CDH1突变，胃癌患者中分别有25%、12%和13%存在KRAS、TP53和APC突变。后一位患者的腹水中出现了KRAS突变，这是转移过程中的一种新突变。腹水和腹腔冲洗液的靶向NGS在GI癌患者中具有临床意义，也存在局限性。基于NGS的细胞学检查可能会扩展GI癌患者的细胞分子诊断实践。
