A mouse model of PTEN Hamartoma Tumour Syndrome reveals that loss of the nuclear function of PTEN drives macrocephaly, lymphoid overgrowth, and late-onset cancer
Priyanka Tibarewal, Victoria Rathbone, Sarah E. Conduit, Gala Anastasia Electra Classen, Fiona Black, Mohammad Amin Danesh, Georgia Constantinou, Zeinab Asgarian, Koujiro Tohyama, Nisha Kriplani, Virginia Alvarez Garcia, Elizabeth Foxall, Djenat Belarbi, Marie Leverve, Wayne P Pearce, , Bart Vanhaesebroeck
This study shows that a specific PTEN mutation causes macrocephaly, lymphoid overgrowth, and late-onset cancer in mice by impairing nuclear PTEN functions, while maintaining normal PI3K/AKT signaling.
Disease Models & Mechanisms · Nov 11, 2025Peer-reviewedGenetics