Cargando…

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

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 usi...

Descripción completa

Detalles Bibliográficos
Autores principales: Parimi, Vamsi, Tolba, Khaled, Danziger, Natalie, Kuang, Zheng, Sun, Daokun, Lin, Douglas I., Hiemenz, Matthew C., Schrock, Alexa B., Ross, Jeffrey S., Oxnard, Geoffrey R., Huang, Richard S. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870857/
https://www.ncbi.nlm.nih.gov/pubmed/36690680
http://dx.doi.org/10.1038/s41698-023-00347-2
_version_ 1784877059639607296
author Parimi, Vamsi
Tolba, Khaled
Danziger, Natalie
Kuang, Zheng
Sun, Daokun
Lin, Douglas I.
Hiemenz, Matthew C.
Schrock, Alexa B.
Ross, Jeffrey S.
Oxnard, Geoffrey R.
Huang, Richard S. P.
author_facet Parimi, Vamsi
Tolba, Khaled
Danziger, Natalie
Kuang, Zheng
Sun, Daokun
Lin, Douglas I.
Hiemenz, Matthew C.
Schrock, Alexa B.
Ross, Jeffrey S.
Oxnard, Geoffrey R.
Huang, Richard S. P.
author_sort Parimi, Vamsi
collection PubMed
description 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%.
format Online
Article
Text
id pubmed-9870857
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-98708572023-01-25 Genomic landscape of 891 RET fusions detected across diverse solid tumor types Parimi, Vamsi Tolba, Khaled Danziger, Natalie Kuang, Zheng Sun, Daokun Lin, Douglas I. Hiemenz, Matthew C. Schrock, Alexa B. Ross, Jeffrey S. Oxnard, Geoffrey R. Huang, Richard S. P. NPJ Precis Oncol Article 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%. Nature Publishing Group UK 2023-01-23 /pmc/articles/PMC9870857/ /pubmed/36690680 http://dx.doi.org/10.1038/s41698-023-00347-2 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Parimi, Vamsi
Tolba, Khaled
Danziger, Natalie
Kuang, Zheng
Sun, Daokun
Lin, Douglas I.
Hiemenz, Matthew C.
Schrock, Alexa B.
Ross, Jeffrey S.
Oxnard, Geoffrey R.
Huang, Richard S. P.
Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title_full Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title_fullStr Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title_full_unstemmed Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title_short Genomic landscape of 891 RET fusions detected across diverse solid tumor types
title_sort genomic landscape of 891 ret fusions detected across diverse solid tumor types
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870857/
https://www.ncbi.nlm.nih.gov/pubmed/36690680
http://dx.doi.org/10.1038/s41698-023-00347-2
work_keys_str_mv AT parimivamsi genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT tolbakhaled genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT danzigernatalie genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT kuangzheng genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT sundaokun genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT lindouglasi genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT hiemenzmatthewc genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT schrockalexab genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT rossjeffreys genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT oxnardgeoffreyr genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes
AT huangrichardsp genomiclandscapeof891retfusionsdetectedacrossdiversesolidtumortypes