Low-frequency CDKN1B variants in pituitary testing: a diagnostic pitfall
Authors' conclusion
Collectively, these findings supported a leukocyte-restricted origin of the CDKN1B variants and suggested CHIP as the most likely explanation.
Study context
- Population
- Patients referred for routine genetic investigation of pituitary adenoma predisposition with low-frequency CDKN1B variants in blood-derived DNA
- Participants
- 3 unrelated patients
- Outcome
- Origin of low-VAF CDKN1B variants
Main finding
As reported in the abstract
Truncating CDKN1B variants, blood-derived VAF range
4% to 6%
Additional pathogenic variants in clonal hematopoiesis of indeterminate potential (CHIP)-associated genes
2 individuals
Observational data: associations, not effects.
Further findings
Clinical presentations
- Gonadotroph macroadenomas diagnosed later than age 70 years
- 2
- PRL-secreting macroadenoma diagnosed before age 35
- 1
Original publication
Low-frequency CDKN1B variants in pituitary testing: a diagnostic pitfall. Eur J Endocrinol. Published 27 August 2026. doi:10.
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