Genomic landscape of 891 RET fusions detected across diverse solid tumor types

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

doi:10.1038/s41698-023-00347-2

Genomic landscape of 891 RET fusions detected across diverse solid tumor types

NPJ Precis Oncol. 2023 Jan 23;7(1):10. doi: 10.1038/s41698-023-00347-2.

Authors

Affiliations

¹ Foundation Medicine, Inc, Cambridge, MA, USA.
² Department of Pathology and Urology, State University of New York (SUNY) Upstate Medical University, Syracuse, New York, NY, USA.
³ Foundation Medicine, Inc, Cambridge, MA, USA. rhuang@foundationmedicine.com.

Abstract

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%.