Genetic testing in prolactinomas: a cohort study
Authors' conclusion
We did not identify any LPVs in patients over 30 years of age, either in a familial or in a sporadic context, and in a sporadic context in our series or the literature. Special attention should be paid to young patients and to familial context.
Study context
- Population
- Patients with isolated prolactinomas referred for genetic testing of MEN1, AIP and CDKN1B, 2003–2020; SF3B1 Sanger sequenced in genetically negative patients49 familial context
- Participants
- 506 patients
- Outcome
- Prevalence of germline mutations
Main finding
As reported in the abstract
(Likely) pathogenic variant (LPV) in MEN1 or AIP
LPV in MEN1 or AIP
14
2.8%
LPV in CDKN1B
0
Observational data: associations, not effects.
Further findings
Prevalence of germline mutations, isolated macroprolactinoma under 30
- Sporadic context
- 4% (11/258)
- Familial context
- 15% (3/20)
Prevalence in sporadic cases younger than 18
- Men
- 15% (5/33)
- Women
- 7% (4/57)
R625H SF3B1 germline mutation in macroprolactinomas
- R625H SF3B1 germline mutation identified in 264 patients
- 0
Prolactinoma size
- Microprolactinoma
- 80 (15.9%)
- Macroprolactinoma
- 378 (74.7%)
- Unknown
- 48
Original publication
Genetic testing in prolactinomas: a cohort study. Eur J Endocrinol. Published 13 November 2023. doi:10.
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