ArticleClinical genetics2010
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Article in Clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it, 208 citations in OpenAlex.
- Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.Frontiers in endocrinology · 2019Pooled it
- Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026Review
- Pediatric pituitary adenomas: clinical features, treatment strategies, and management challenges.Endocrine · 2025Article
- Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.Pituitary · 2025Article
- Pituitary Neuroendocrine Tumors in Multiple Endocrine Neoplasia.Endocrinology and metabolism (Seoul, Korea) · 2025Review
- Context aware machine learning techniques for brain tumor classification and detection - A review.Heliyon · 2025Review
- The evolution and application of multi-omic analysis for pituitary neuroendocrine tumors.Frontiers in medicine · 2025Review
- Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.Journal of clinical medicine · 2024Review
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
- Case report: Complete restoration of the HPA axis function in Cushing's disease with drug treatment.Frontiers in endocrinology · 2024Article
- Diagnosis and Management of Aggressive/Refractory Growth Hormone-Secreting Pituitary Neuroendocrine Tumors.International journal of endocrinology · 2024Review
- Brain Tumors: Development, Drug Resistance, and Sensitization - An Epigenetic Approach.Epigenetics · 2023Review
- Genetically engineered human pituitary corticotroph tumor organoids exhibit divergent responses to glucocorticoid receptor modulators.Translational research : the journal of laboratory and clinical medicine · 2023Article
- An update on, and genetics of refractory adenomas of childhood.Pituitary · 2023Review
- The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in theFrontiers in endocrinology · 2023Article
- Expressions of Cushing's syndrome in multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Review
- Gene Mutations in Cushing's Syndrome.Molecular syndromology · 2023Review
- Genetic drivers of Cushing's disease: Frequency and associated phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Article
- Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022Review
30 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 2 countries.
Funding
Abstract
The prevalence of germline mutations in MEN1, AIP, PRKAR1A, CDKN1B and CDKN2CI is unknown among pediatric patients with pituitary adenomas (PA). In this study, we screened children with PA for mutations in these genes; somatic GNAS mutations were also studied in a limited number of growth hormone (GH) or prolactin (PRL)-secreting PA. We studied 74 and 6 patients with either isolated Cushing disease (CD) or GH- or PRL-secreting PA, respectively. We also screened four pediatric patients with CD, and four with GH/PRL-secreting tumors who had some syndromic features. There was one AIP mutation (p.Lys103Arg) among 74 CD patients. Two MEN1 mutations that occurred in patients with recurrent or difficult-to-treat disease were found among patients with CD. There was one MEN1 and three AIP mutations (p.Gln307ProfsX104, p.Pro114fsX, p.Lys241X) among pediatric patients with isolated GH- or PRL-secreting PA and one additional MEN1 mutation in a patient with positive family history. There were no mutations in the PRKAR1A, CDKN1B, CDKN2C or GNAS genes. Thus, germline AIP or MEN1 gene mutations are frequent among pediatric patients with GH- or PRL-secreting PA but are significantly rarer in pediatric CD; PRKAR1A mutations are not present in PA outside of Carney complex.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.