Lee Su Jin, Hong Jung Yong, Kim Kyung, Kim Kyoung-Mee, Kang So Young, Lee Taeyang, Kim Seung Tae, Park Se Hoon, Park Young Suk, Lim Ho Yeong, Kang Won Ki, Lee Jeeyun, Park Joon Oh
Division of Hematology-Oncology, Department of Medicine, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Division of Hematology-Oncology, Department of Internal Medicine, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
J Oncol. 2020 Jan 22;2020:4659062. doi: 10.1155/2020/4659062. eCollection 2020.
Successful identification and targeting of oncogenic gene fusion is a major breakthrough in cancer treatment. Here, we investigate the therapeutic implications and feasibility of using a targeted RNA sequencing panel to identify fusion genes in gastrointestinal and rare cancers. From February through December 2017, patients with gastrointestinal, hepatobiliary, gynecologic, sarcoma, or rare cancers were recruited for a clinical sequencing project at Samsung Medical Center (NCT #02593578). The median age of the patients was 58 years (range, 31-81 years), and the male-to-female ratio was 1.3 : 1. A total of 118 patients passed the quality control process for a next-generation sequencing- (NGS-) based targeted sequencing assay. The NGS-based targeted sequencing assay was performed to detect gene fusions in 36-53 cancer-implicated genes. The following cancer types were included in this study: 28 colorectal cancers, 27 biliary tract cancers, 25 gastric cancers, 18 soft tissue sarcomas, 9 pancreatic cancers, 6 ovarian cancers, and 9 other rare cancers. Strong fusion was detected in 25 samples (21.2%). We found that 5.9% (7/118) of patients had known targetable fusion genes involving (=3), (=3), and (=1), and 10.2% (12/118) of patients had potentially targetable fusion genes involving (=4), (=2), (=2), (=1), (=1), and (=2). Thus, we successfully identified a substantial proportion of patients harboring fusion genes by RNA panel sequencing of gastrointestinal/rare cancers. Targetable and potentially targetable involved fusion genes were , , , , , , , , and . Detection of fusion genes by RNA panel sequencing may be beneficial in refractory patients with gastrointestinal/rare cancers.
成功鉴定和靶向致癌基因融合是癌症治疗的一项重大突破。在此，我们研究使用靶向RNA测序 panel 来鉴定胃肠道和罕见癌症中融合基因的治疗意义和可行性。2017年2月至12月，三星医疗中心（NCT #02593578）招募了患有胃肠道、肝胆、妇科、肉瘤或罕见癌症的患者参与一项临床测序项目。患者的中位年龄为58岁（范围31 - 81岁），男女比例为1.3∶1。共有118名患者通过了基于二代测序（NGS）的靶向测序检测的质量控制流程。基于NGS的靶向测序检测用于检测36 - 53个与癌症相关基因中的基因融合。本研究纳入了以下癌症类型：28例结直肠癌、27例胆管癌、25例胃癌、18例软组织肉瘤、9例胰腺癌、6例卵巢癌和9例其他罕见癌症。在25个样本（21.2%）中检测到强融合。我们发现5.9%（7/118）的患者具有已知的可靶向融合基因，涉及 （=3）、 （=3）和 （=1），10.2%（12/118）的患者具有潜在可靶向融合基因，涉及 （=4）、 （=2）、 （=2）、 （=1）、 （=1）和 （=2）。因此，我们通过对胃肠道/罕见癌症进行RNA panel测序成功鉴定出相当比例携带融合基因的患者。可靶向和潜在可靶向涉及的融合基因有 、 、 、 、 、 、 、 、 。通过RNA panel测序检测融合基因可能对难治性胃肠道/罕见癌症患者有益。
