Targeted Next-Generation Sequencing in Succinate Dehydrogenase–Deficient GI Stromal Tumor Identifies Actionable Alterations in the PI3K/mTOR Pathway
This molecular landscape of SDH-deficient GIST uncovers novel molecular alterations, mostly in relapse and/or previously pretreated patients. The identification of genetic events leading to PI3K/mTOR dysregulation together with the remarkable activity of everolimus in one patient showcases the clinical relevance of this pathway, validates the utility of NGS in this population, and poses everolimus as a novel therapeutic alternative. Several other alterations were found at the genetic and genomic levels, underscoring novel biological processes likely involved during tumor evolution.
Authors
- Claudia Valverde (ORCID: https://orcid.org/0000-0003-4107-8616)
- Carlo María Cicala (ORCID: https://orcid.org/0000-0002-4350-495X)
- Judit Matito (ORCID: https://orcid.org/0000-0001-7560-7737)
- David Gómez-Peregrina (ORCID: https://orcid.org/0000-0003-1126-897X)
- María Quindós
- César Serrano (ORCID: https://orcid.org/0000-0003-1416-8739)
- Macarena González (ORCID: https://orcid.org/0000-0002-4901-4150)
- Luis Gros (ORCID: https://orcid.org/0000-0002-2962-6942)
- Ana Vivancos (ORCID: https://orcid.org/0000-0003-2888-6512)
- Stefania Landolfi (ORCID: https://orcid.org/0000-0002-1059-635X)
- Paula Pérez‐Albert (ORCID: https://orcid.org/0000-0002-5313-0883)
- Paula Romero-Lozano
- Paula Fernández-Suárez
Institutions
- Vall d'Hebron Institut de Recerca (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Complexo Hospitalario Universitario A Coruña (ES)
- Instituto de Investigación Biomédica de A Coruña (ES)
- Vall d'Hebron Institute of Oncology (ES)
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1200/po-24-00497
- Citations
- 3
- Primary Topic
- Gastrointestinal Tumor Research and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 5.43