Genetic profiling of synchronous pituitary corticotroph adenomas
We report, for the first time, the genetic profiles of a patient with dual pituitary corticotroph tumors, identifying a stop-gain variant in GPR162 in one tumor and a novel USP8 variant (S718P) in the other. While both somatic variants increased POMC expression, only GPR162 R218* affected proliferation. We hypothesize that alterations in adrenal steroidogenesis due to the CYP21A1 mutation may have reduced negative feedback on corticotroph cells and acted in a permissive way to facilitate corticotroph tumorigenesis.
Authors
- Karen Tsai (ORCID: https://orcid.org/0000-0003-2848-832X)
- C. Santana (ORCID: https://orcid.org/0000-0001-6323-7716)
- Anthony P. Heaney (ORCID: https://orcid.org/0000-0003-3865-0810)
- Harry V. Vinters (ORCID: https://orcid.org/0000-0002-2965-1240)
- Marilene B. Wang (ORCID: https://orcid.org/0000-0002-2799-6325)
- Won Bae Kim (ORCID: https://orcid.org/0000-0003-3423-3825)
- Weihong Yan
- Dongyun Zhang (ORCID: https://orcid.org/0000-0002-0751-7809)
- Matthew Lee (ORCID: https://orcid.org/0009-0007-8106-0935)
- Marvin Bergsneider (ORCID: https://orcid.org/0000-0001-6423-5480)
- Keanu Javaherian
Institutions
- University of California, Los Angeles (US)
- University of California System (US)
Publication Details
- Journal
- Pituitary
- Published
- 2025-06-22
- DOI
- https://doi.org/10.1007/s11102-025-01549-6
- Citations
- 1
- Primary Topic
- Pituitary Gland Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.29
Funders
- National Institutes of Health
- National Cancer Institute