Genomic mutation analysis of circulating tumor DNA in metastatic cutaneous squamous cell carcinoma
Genomic mutation analysis of circulating tumor DNA in metastatic cutaneous squamous cell carcinoma
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转移性皮肤鳞状细胞癌循环肿瘤DNA的基因组突变分析
DOI：
10.1016/j.jdermsci.2022.03.004
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发表时间：
2022
影响因子：
4.6
通讯作者：
Fukushima Satoshi
中科院分区：
文献类型：
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作者：
Sawamura Soichiro;Myangat Tselmeg Mijiddorj;Kajihara Ikko;Tanaka Kenichiro;Kanemaru Hisashi;Nishimura Yuki;Kashiwada-Nakamura Kayo;Makino Kastunari;Aoi Jun;Masuguchi Shinichi;Fukushima Satoshi
通过深度测序进行的癌症个性化分析（CAPP-seq）是一种用于循环肿瘤DNA（ctDNA）的超灵敏下一代测序方法[1]，是一种随时间推移监测疾病进展的侵入性较小的技术[2]。连续无细胞DNA（cfDNA）测序揭示了与癌症进展相关的突变基因的变异等位基因频率（VAF）的变化[3]。在皮肤病学中，使用CAPP-Seq进行ctDNA分析的报道很少[4]。本研究采用CAPP-seq技术对转移性皮肤鳞状细胞癌（SCC）患者的cfDNA基因组进行分析，并探讨其临床意义。在开始全身治疗之前从所有患者获得组织样品。根据赫尔辛基宣言获得机构审查委员会批准和书面知情同意书。根据制造商的方案，使用AVENIO ctDNA Expanded Kit（Roche Diagnostics，Switzerland）通过CAPP-seq分析来自血浆样品（2 mL）的cfDNA [4]。用Illumina NextSeq系统（Illumina，San Diego，CA）对文库进行测序，并使用AVENIO Oncology Analysis Software（ver. 2.0. 0.）。这些研究由Riken Genesis（日本东京）进行。液滴数字PCR
Cancer personalized profiling by deep sequencing (CAPP-seq), an ultrasensitive nextgeneration sequencing-based method for circulating tumor DNA (ctDNA)[1], is a less invasive technique to monitor disease progression over time [2]. Serial cell-free DNA (cfDNA) sequencing reveals changes in the variant allele frequency (VAF) of mutated genes associated with cancer progression [3]. In dermatology, there are few reports of ctDNA analysis using CAPP-Seq [4]. Here, we investigated the genomic profiling of cfDNA using CAPP-seq and its clinical significance in patients with metastatic cutaneous squamous cell carcinoma (SCC).Plasma samples were obtained from four patients with metastatic SCC diagnosed in our hospital. Tissue samples were obtained from all patients before the start of systemic therapy. Institutional review board approval and written informed consent were obtained according to the Declaration of Helsinki. The cfDNA from the plasma samples (2 mL) was analyzed by CAPP-seq using an AVENIO ctDNA Expanded Kit (Roche Diagnostics, Switzerland) according to the manufacturer’s protocols [4]. Libraries were sequenced with an Illumina NextSeq System (Illumina, San Diego, CA), and bioinformatics data were analyzed using the AVENIO Oncology Analysis Software (ver. 2.0. 0.). These investigations were conducted by Riken Genesis (Tokyo, Japan). Droplet digital PCR