Prolonged survival in a patient with pbrm1 mutated metastatic cholangiocarcinoma receiving tazemetostat
The synergy between SWI/SNF and Polycomb Repressive Complexes (PRCs) has been a topic of extensive research. The demonstrated heightened preclinical sensitivity of SWI/SNF gene mutations to EZH2 inhibition together with the accelerated approval of Tazemetostat for selected EZH2 mutant tumors by the FDA, has significantly expanded our understanding of chromatin remodeling complexes and their vulnerabilities. Here we report a durable response in a patient with PBRM1 mutated cholangiocarcinoma treated with Tazemetostat. We provide hypothesis-generating mechanistic findings into the relationship between PBRM1 mutations and EZH2 inhibition and the interplay between the SWI/SNF and PRC2 complexes.
Authors
- Víctor Moreno (ORCID: https://orcid.org/0000-0001-6099-4236)
- Manuel Pedregal
- Balázs Győrffy (ORCID: https://orcid.org/0000-0002-5772-3766)
- Pablo Mínguez (ORCID: https://orcid.org/0000-0003-4099-9421)
- Tatiana Hernández‐Guerrero (ORCID: https://orcid.org/0000-0003-3459-871X)
- Alberto Ocaña (ORCID: https://orcid.org/0000-0002-1067-9630)
- Esther Cabañas Morafraile (ORCID: https://orcid.org/0000-0003-0929-6058)
- Alberto Garrido (ORCID: https://orcid.org/0000-0002-9067-357X)
- Daniel Morillo (ORCID: https://orcid.org/0000-0003-3957-3618)
- Bernard Doger
Institutions
- Semmelweis University (HU)
- University Hospital Complex Of Vigo (ES)
- Hospital Clínico San Carlos (ES)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- National Research Council (LK)
- Delfos Hospital (ES)
- Universidad Autónoma de Madrid (ES)
- University of Pecs (HU)
- HUN-REN Research Centre for Natural Sciences (HU)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1038/s41698-025-01113-2
- Citations
- 1
- Primary Topic
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.01