用于妇科癌症的基因检测面板的有效性：一项探索性研究。

Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study.

机构信息

Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

Genomics Unit, Keio Cancer Center, Keio University School of Medicine, 3-S5, Institute of Integrated Medical Research, 35 Shinanomachi, Shinjuku-Ku, Tokyo, 160-8582, Japan.

出版信息

Med Oncol. 2019 May 29;36(7):62. doi: 10.1007/s12032-019-1286-9.

DOI:10.1007/s12032-019-1286-9

PMID:31139954

Abstract

To increase diagnostic efficiency and cost-effectiveness, we performed an exploratory genetic test using a newly designed panel containing 28 actionable and druggable genes, alterations in which are frequently reported in gynecological cancers (TANRE-G, Targeted variants ANalysis RElated to Gynecological cancers). Samples consisted of the formalin-fixed, paraffin-embedded tissue of endometrial (4 cases), cervical (3 cases), and ovarian (4 cases) carcinomas. The sequencing procedure was performed using Ion PGM in our institute with related sequencing kits, and data were analyzed using ClinVar. The present system achieved more than 2500 reads in all tumor samples, and enabled a copy number variation analysis. Results showed that actionable and druggable mutations were detected in 82% (9/11) and 64% (7/11) of cases, respectively, which was similar to other commercially available genetic tests. The amplification of MYC and KRAS was also detected. The analysis cost for each sample was JPY 94,000 (USD 850). These results demonstrate the potential of the TANRE-G panel as an effective tool for examining genetic alterations in gynecological cancers.

摘要

为了提高诊断效率和成本效益，我们使用新设计的包含 28 个可操作和可靶向治疗基因的panel 进行了探索性基因检测，这些基因的改变在妇科癌症中经常被报道（TANRE-G，靶向与妇科癌症相关的变异分析）。样本包括子宫内膜癌（4 例）、宫颈癌（3 例）和卵巢癌（4 例）的福尔马林固定、石蜡包埋组织。测序过程在我们研究所使用 Ion PGM 及其相关测序试剂盒进行，数据使用 ClinVar 进行分析。本系统在所有肿瘤样本中实现了超过 2500 个reads 的读取，并能够进行拷贝数变异分析。结果显示，可操作和可靶向治疗的突变分别在 82%（9/11）和 64%（7/11）的病例中被检测到，这与其他商业可用的基因检测相似。还检测到了 MYC 和 KRAS 的扩增。每个样本的分析成本为 94000 日元（850 美元）。这些结果表明 TANRE-G panel 作为一种有效的工具，可用于检测妇科癌症中的遗传改变。