Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH
This novel discovery sheds light on the molecular basis of plexiform lesion development in this rare case of combined PAH and HHT, highlighting a potential role of somatic mutations in driving endothelial cell proliferation in plexiform lesions.
Authors
- Domenico Mastrodicasa (ORCID: https://orcid.org/0000-0001-8227-0757)
- Edda Spiekerkoetter (ORCID: https://orcid.org/0000-0002-3868-5186)
- Yue Qi (ORCID: https://orcid.org/0000-0003-1914-8710)
- Joseph C. Wu (ORCID: https://orcid.org/0000-0002-6068-8041)
- Rachel K. Hopper (ORCID: https://orcid.org/0000-0002-7483-2825)
- Douglas A. Marchuk (ORCID: https://orcid.org/0000-0002-3110-6671)
- Evon DeBose-Scarlett (ORCID: https://orcid.org/0000-0002-0488-0717)
- Katharina Schimmel
- Serena Tan
- Tucker Hallmark
Institutions
- Lucile Packard Children's Hospital (US)
- Duke University (US)
- University of Washington (US)
- Cardiovascular Institute of the South (US)
- Phoenix Children's Hospital (US)
Publication Details
- Journal
- JACC Case Reports
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1016/j.jaccas.2025.106786
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00