Identification of novel mutations in Japanese ovarian clear cell carcinoma patients using optimized targeted NGS for clinical diagnosis
Identification of novel mutations in Japanese ovarian clear cell carcinoma patients using optimized targeted NGS for clinical diagnosis
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DOI：
10.1016/j.ygyno.2016.11.045
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发表时间：
2017-02-01
影响因子：
4.7
通讯作者：
Nagase, Hiroki
中科院分区：
文献类型：
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作者：
Maru, Yoshiaki;Tanaka, Naotake;Nagase, Hiroki
Objective.卵巢透明细胞癌（OCCC）是一种侵袭性卵巢癌，在日本发病率较高，通常成为化疗难治性疾病。可靠的基因诊断对于确认OCCC治疗的精准医学的成功至关重要。因此，本研究的目的是确定OCCCs中的新突变，并开发一种可行的临床下一代测序（NGS）方法，使用福尔马林固定石蜡包埋（FFPE），而不是优选的，但并不总是可用的新鲜冷冻（FF）样品。我们使用FFPE和FF DNA对409个癌症相关基因的外显子组分析进行了优化和评估，并分析了NGS数据，以确定日本OCC的体细胞突变。从29对匹配的正常和OCCC中的18对（FIGO阶段I：12）中提取了足够和良好质量的来自FFPE样品的DNA用于NGS（63%）。提取的DNA的质量取决于保存时间的长短（
Objective. Ovarian clear cell carcinoma (OCCC) is an aggressive ovarian cancer with a higher frequency in Japan and often becomes chemorefractory disease. Reliable genetic diagnosis is essential to affirm the success of precision medicine for OCCC treatment. The aim of this study is, therefore, to identify novel mutations in OCCCs and develop a feasible clinical next generation sequencing (NGS) approach using formalin-fixed paraffin-embedded (FFPE) rather than preferable but not always available fresh frozen (FF) samples.Methods. We optimized and evaluated exome analyses of 409 cancer-related genes using FFPE and FF DNA and analyzed NGS data to identify somatic mutations in Japanese OCCCs.Results. Sufficient and good quality DNAs from FFPE samples were extracted from 18 (FIGO Stage I: 12) out of 29 pairs of matched normal and OCCC for NGS (63%). The fine quality of extracted DNAs depended on the length of storage period (