Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Guangzhou Road, Nanjing, Jiangsu Province, China.
Nanjing Geneseeq Biotechnology Inc., Nanjing, Jiangsu Province.
Mol Cancer Ther. 2018 Jan;17(1):290-296. doi: 10.1158/1535-7163.MCT-17-0436. Epub 2017 Nov 13.
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumor of digestive tract. In the past, tissue biopsy was the main method for the diagnosis of GISTs. Although, circulating tumor DNA (ctDNA) detection by next-generation sequencing (NGS) may be a feasible and replaceable method for diagnosis of GISTs. We retrospectively analyzed the data for ctDNA and tissue DNA detection from 32 advanced GIST patients. We found that NGS obviously increased the positive rate of ctDNA detection. ctDNA detection identified rare mutations that were not detected in tissue DNA detection. Tumor size and Ki-67 were significant influencing factors of the positive rate of ctDNA detection and concordance between ctDNA and tissue DNA detection. In all patients, the concordance rate between ctDNA and tissue DNA detection was 71.9%, with moderate concordance, but the concordance was strong for patients with tumor size > 10 cm or Ki-67 > 5%. Tumor size, mitotic figure, Ki-67, and ctDNA mutation type were the significant influencing factors of prognosis, but only tumor size and ctDNA mutation type, were the independent prognostic factors for advanced GIST patients. We confirmed that ctDNA detection by NGS is a feasible and promising method for the diagnosis and prognosis of advanced GIST patients. .
胃肠道间质瘤（GIST）是最常见的消化道间叶性肿瘤。过去，组织活检是 GIST 诊断的主要方法。虽然，下一代测序（NGS）的循环肿瘤 DNA（ctDNA）检测可能是一种可行的、可替代的 GIST 诊断方法。我们回顾性分析了 32 例晚期 GIST 患者的 ctDNA 和组织 DNA 检测数据。我们发现 NGS 明显提高了 ctDNA 检测的阳性率。ctDNA 检测可识别组织 DNA 检测未检出的罕见突变。肿瘤大小和 Ki-67 是 ctDNA 检测阳性率和 ctDNA 与组织 DNA 检测一致性的显著影响因素。在所有患者中，ctDNA 与组织 DNA 检测的一致性率为 71.9%，具有中度一致性，但对于肿瘤大小>10cm 或 Ki-67>5%的患者，一致性较强。肿瘤大小、有丝分裂象、Ki-67 和 ctDNA 突变类型是预后的显著影响因素，但只有肿瘤大小和 ctDNA 突变类型是晚期 GIST 患者的独立预后因素。我们证实，NGS 的 ctDNA 检测是一种可行且有前途的方法，可用于晚期 GIST 患者的诊断和预后。
