# Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10

**Authors:** Steffen Hirsch, Ramin Rahmanzade, Kerstin Grund, Christian Sutter, Kathrin Schramm, Florian Selt, Jonas Ecker, Barbara C. Jones, Daniel Schrimpf, Martin Demmert, Ana S. Guerreiro Stücklin, Pablo Hernaiz Driever, Markus Mezger, Ines Brecht, Sasan D. Adib, Bastian Brummel, Dominik Sturm, Nicola Dikow, Maja Hempel, Till Milde, Kristian Pajtler, David T. W. Jones, Stefan M. Pfister, Andreas von Deimling, Felix Sahm, Christian P. Schaaf

PMC · DOI: 10.1007/s00401-025-02865-8 · Acta Neuropathologica · 2025-03-14

## Full-text entities

- **Genes:** PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}
- **Diseases:** papillary tumors of the pineal region subtype B (MESH:D010871), PTPR-B (MESH:D006509)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC11909084