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Observational Study
. 2025 Jun;27(6):2719-2730.
doi: 10.1007/s12094-024-03745-5. Epub 2024 Nov 1.

Prospective study of the real impact of fusion centered genomic assays in patient management in a national collaborative group: the GETHI-XX-16 study

Paloma Navarro #  1   2   3   4 , Carmen Beato #  5 , Juan Francisco Rodriguez-Moreno  1   2   3   4 , Sergio Ruiz-Llorente  1   4   6 , Xabier Mielgo  7 , Estela Pineda  8 , Miguel Navarro  9 , Gema Bruixola  10 , Tatiana P Grazioso  1   2   3   4 , Antonio Viudez  11 , Jose Fuster  12 , Esther Nogueron  13 , Maria Dolores Mediano  14 , Carmen Balaña  15 , Carlos Mendez  16 , Rosa María Rodriguez  17 , Sonia Del Barco Berron  18 , Beatriz Gongora  19 , Alberto Carmona-Bayonas  20 , Jesus Garcia-Donas  21   22   23   24
Affiliations
Observational Study

Prospective study of the real impact of fusion centered genomic assays in patient management in a national collaborative group: the GETHI-XX-16 study

Paloma Navarro et al. Clin Transl Oncol. 2025 Jun.

Abstract

Purpose: Precision medicine represents a paradigm shift in oncology. Access to genetic testing and targeted therapies is frequently limited. Assays based on DNA sequencing can miss druggable alterations. We aimed to determine the impact of a free access program to RNA tests in patient management.

Methods: We designed a multicenter prospective observational study within the Spanish National Group for Translational Oncology and Rare and Orphan Tumors (GETTHI). Eligible patients were adults with solid cancers that had progressed on standard therapies. Tumor samples were analyzed using two RNA sequencing assays (Trailblaze PharosTM and Archer FusionPlex Solid TumorTM). A central committee evaluated the actionability of genetic alterations and reported the findings to attending physicians, who made the final clinical management decisions.

Results: Between November 2016 and April 2019, 395 patients with 41 different tumors across 30 hospitals were included. Molecular analysis revealed actionable genetic alterations in 57 individuals (14.4%). Targeted therapies were advised for 23 and seven received a matched targeted therapy: two lung cancers (EML4-ALK and CD74-ROS1 fusion), three glioblastomas (EGFR point mutations), one oligodendroglioma (FGFR3-TACC3 fusion) and a prostate cancer (SND1-BRAF fusion). The outcomes included two tumor responses, one disease stabilization, one early withdrawal due to toxicity, one progression, and one unknown.

Conclusion: Despite the growing knowledge of cancer biology and its translation to drug development, the overall impact of personalized treatments remains low. Access to comprehensive molecular tests covering properly all known actionable alterations and programs for a wide access to targeted therapies seem to be critical steps.

Keywords: Advanced cancer; Fusion; Mutation; NGS; Precision medicine.

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Conflict of interest statement

Declarations. Conflict of interest: There are no conflicts of interest. Human and animal rights: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent: All participants provided informed consent prior to their participation.

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