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 ^[6] ; Carmen Beato ^[7] ; Juan Francisco Rodríguez Moreno ^[6] ; Sergio Ruiz Llorente ^[6] ; Xabier Mielgo ^[1] ; Estela Pineda ^[2] ; Miguel Navarro ^[3] ; Gema Bruixola ^[8] ; Tatiana P. Grazioso ^[6] ; Antonio Viudez ^[9] ; Jose Fuster ^[4] ; Esther Nogueron ^[5] ; María Dolores Mediano ^[10] ; Carmen Balaña ^[11] ; Carlos Mendez ^[12] ; Rosa María Rodriguez ^[13] ; Sonia del Barco Berron ^[14] ; Beatriz Gongora ^[15] ; Alberto Carmona Bayonas ^[16] ; Jesús García Donas ^[6]
  1. [1] Fundación Hospital Alcorcón

     Fundación Hospital Alcorcón

     Alcorcón, España

     
  2. [2] Hospital Clinic Barcelona

     Hospital Clinic Barcelona

     Barcelona, España

     
  3. [3] Hospital Universitario de Salamanca

     Hospital Universitario de Salamanca

     Salamanca, España

     
  4. [4] Hospital Universitario Son Espases

     Hospital Universitario Son Espases

     Palma de Mallorca, España

     
  5. [5] Complejo Hospitalario Universitario de Albacete

     Complejo Hospitalario Universitario de Albacete

     Albacete, España

     
  6. [6] Laboratory of Innovation in Oncology; Gynecological, Genitourinary and Skin Tumor Unit, HM CIOCC (Clara Campal Comprehensive Cancer Centre), Sanchinarro HM Universitary Hospital, HM Hospitales, Madrid, Spain, Madrid, Spain
  7. [7] Medical Oncology Department, Hospital Virgen de La Macarena, Seville, Spain
  8. [8] Medical Oncology Department, Hospital Clinico Universtario - INCLIVA Biomedical Research Institute, Valencia, Spain
  9. [9] Medical Oncology Department, Hospital de Navarra, Pamplona, Spain
  10. [10] Hospital Universitario Virgen de La Macarena, Seville, Spain
  11. [11] Instituto Catalán de Oncología-Badalona, Barcelona, Spain
  12. [12] Oncologic Center of Galicia, A Coruña, Spain
  13. [13] Universitary Hospital Reina Sofa, Cordoba, Spain
  14. [14] Instituto Catalán de Oncología, Girona, Spain
  15. [15] Hospital de Torrecárdenas, Almería, Spain
  16. [16] Hospital Universitario Morales Meseguer, Murcia, Spain

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• Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 27, Nº. 6, 2025, págs. 2719-2730
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • 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 fndings to attending physicians, who made the fnal clinical management decisions.

    Results Between November 2016 and April 2019, 395 patients with 41 diferent 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.