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Updated: Jul 11, 2025

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Genetic testing in prolactinomas: a cohort study.

Amina Boukerrouni1, Thomas Cuny2, Thibaut Anjou1

  • 1Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, MarMaRa Institute, 13005 Marseille, France.

European Journal of Endocrinology
|November 13, 2023
PubMed

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Summary
This summary is machine-generated.

Hereditary predisposition to prolactinoma is rare, primarily affecting young patients with macroprolactinomas. Genetic testing for MEN1 and AIP is crucial in familial cases and individuals under 30.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Prolactinomas are common pituitary tumors, but the genetic basis for hereditary predisposition remains largely unexplored.
  • This study investigates the prevalence of germline mutations in patients with isolated prolactinomas, addressing a significant knowledge gap.

Purpose of the Study:

  • To determine the prevalence of germline mutations in a large cohort of patients diagnosed with isolated prolactinomas.
  • To identify specific genes (MEN1, AIP, CDKN1B, SF3B1) associated with hereditary prolactinoma.

Main Methods:

  • Retrospective analysis of genetic and clinical data from 506 patients referred for genetic testing (2003-2020).
  • Testing included genes MEN1, AIP, and CDKN1B, with Sanger sequencing for SF3B1 in mutation-negative cases.
Keywords:
familial adenomasgenetic predispositionhereditary pituitary adenomapituitary neuroendocrine tumorsprevalence

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Main Results:

  • Germline mutations (likely pathogenic variants) in MEN1 or AIP were found in 2.8% of patients (14/506), exclusively in those with macroprolactinomas diagnosed before age 30.
  • Prevalence was higher in familial contexts (15%) and in sporadic cases under 30 (4%).
  • No mutations were found in CDKN1B or SF3B1 (R625H).

Conclusions:

  • Germline mutations associated with prolactinoma are primarily identified in young patients (<30 years) with macroprolactinomas, particularly in familial settings.
  • No pathogenic variants were detected in patients over 30, suggesting age is a critical factor.
  • Genetic screening for MEN1 and AIP should be considered in young patients with prolactinoma, especially those with a family history.