A hypodiploid corticotroph pituitary tumor with a germline TP53 variant
Authors' conclusion
Biallelic TP53 inactivation and the presence of cLOH supports that the germline TP53 mutation functions as a driver.
Study context
- Population
- Patients with aggressive pituitary tumorspatients with aggressive pituitary tumors who underwent germline sequencing
- Participants
- 20 patients
- Outcome
- Pathogenic/likely pathogenic germline variants
Main finding
As reported in the abstract
- Patients with pathogenic/likely pathogenic variants
- three patients
- High-penetrant variant: TP53 (NM_000546) c.799C>T (p.Arg267Trp)
- one
- Low-penetrant variants, likely incidental findings: LZTR1 (NM_006767) c.1214delG (p.Gly405Alafs*56) and MUTYH (NM_001128425) c.536A>G (p.Tyr179Cys)
- two
Further findings
Clinical course of the patient diagnosed with li-Fraumeni syndrome (LFS)
- Aggressive, silent corticotroph pituitary tumor presenting in her 20s that progressed after the initial subtotal transsphenoidal resection
- within 5 months
Molecular analysis of the LFS patient's tumor
- Widespread chromosomal loss-of-heterozygosity (cLOH) involving chromosomes frequently lost in aggressive corticotroph tumors with somatic TP53 mutations
- 8 of the 12
- Biallelic inactivation of TP53
Original publication
A hypodiploid corticotroph pituitary tumor with a germline TP53 variant. Eur J Endocrinol. Published 14 November 2026. doi:10.
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