检测到的 891 个 RET 融合基因组景观跨越多种实体肿瘤类型。
Genomic landscape of 891 RET fusions detected across diverse solid tumor types.
发表日期:2023 Jan 23
作者:
Vamsi Parimi, Khaled Tolba, Natalie Danziger, Zheng Kuang, Daokun Sun, Douglas I Lin, Matthew C Hiemenz, Alexa B Schrock, Jeffrey S Ross, Geoffrey R Oxnard, Richard S P Huang
来源:
npj Precision Oncology
摘要:
在本研究中,我们报告了891名RET融合驱动的晚期实体肿瘤患者的临床病理和基因组谱。所有患者样本均使用基于组织的DNA杂交捕获下一代测序(NGS)检测方法进行测试,并对部分样本进行了液体活检,使用基于液体的杂交捕获NGS检测方法进行测试。在523名NSCLC患者和368名其他实体肿瘤患者中发现了RET融合。具有最高RET融合数量的两种肿瘤类型是肺腺癌和甲状腺乳头状癌,分别具有1.14%(455/39,922)和9.09%(109/1199)的流行率。在这个全肿瘤队列中,共发现了61种新的融合情况。在组织和液体基础的NGS检测中,对于肿瘤部位组合比例(cTF)大于1%的患者,RET融合的检测一致性为100%(8/8)。在此,我们提供了一个RET融合阳性肿瘤大队列的临床病理和基因组景观,我们观察到液体活检基础的NGS对于cTF≥1%的RET融合具有高度敏感性。©2023.作者。
In this study, we report the clinicopathologic and genomic profiles of 891 patients with RET fusion driven advanced solid tumors. All patient samples were tested using a tissue-based DNA hybrid capture next generation sequencing (NGS) assay and a subset of the samples were liquid biopsies tested using a liquid-based hybrid capture NGS assay. RET fusions were found in 523 patients with NSCLC and in 368 patients with other solid tumors. The two tumor types with the highest number of RET fusion were lung adenocarcinoma and thyroid papillary carcinoma, and they had a prevalence rate 1.14% (455/39,922) and 9.09% (109/1199), respectively. A total of 61 novel fusions were discovered in this pan-tumor cohort. The concordance of RET fusion detection across tumor types among tissue and liquid-based NGS was 100% (8/8) in patients with greater than 1% composite tumor fraction (cTF). Herein, we present the clinicopathologic and genomic landscape of a large cohort of RET fusion positive tumors and we observed that liquid biopsy-based NGS is highly sensitive for RET fusions at cTF ≥1%.© 2023. The Author(s).