Observational studyThe Journal of clinical endocrinology and metabolism2015
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Observational study in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 82 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Who cites it
82 citing papers in PubMed, 3 syntheses or guidelines pooled it, 168 citations in OpenAlex.
- Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.Nature reviews. Endocrinology · 2024Guideline
- Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.Nature reviews. Endocrinology · 2024Guideline
- Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.Frontiers in endocrinology · 2019Pooled it
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026Review
- Clinical and Genetic Spectrum of Large AIP Deletions.Human mutation · 2026Article
- Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.Endocrine-related cancer · 2026Article
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.Scientific reports · 2025Article
- Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.European journal of endocrinology · 2025Article
- Use of Pasireotide in Acromegaly: Clinical Experiences From a Series of Patients in Qatar.Case reports in endocrinology · 2025Article
- The evolution and application of multi-omic analysis for pituitary neuroendocrine tumors.Frontiers in medicine · 2025Review
- Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.Endocrine · 2024Article
- Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways.Acta neuropathologica communications · 2024Article
- Familial isolated pituitary adenoma is independent ofHeliyon · 2024Article
- Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine Society · 2024Article
- Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.Journal of endocrinological investigation · 2024Review
- Lysine Methyltransferase 5A Promotes the Progression of Growth Hormone Pituitary Neuroendocrine Tumors through the Wnt/β-Catenin Signaling Pathway.Neuroendocrinology · 2024Article
- Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas.Journal of endocrinological investigation · 2023Article
22 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
14 authors at 6 institutions in 3 countries.
Funding
Abstract
contextFamilial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease.
objectiveTo determine the AIP mutational status of FIPA and young pituitary adenoma patients, analyzing their clinical characteristics, and to perform clinical screening of apparently unaffected AIPmut carrier family members.
designThis was an observational, longitudinal study conducted over 7 years.
settingInternational collaborative study conducted at referral centers for pituitary diseases.
participantsFIPA families (n 216) and sporadic young-onset (30 y) pituitary adenoma patients (n 404) participated in the study.
interventionsWe performed genetic screening of patients for AIPmuts, clinical assessment of their family members, and genetic screening for somatic GNAS1 mutations and the germline FGFR4 p.G388R variant. MAIN OUTCOME MEASURE(S): We assessed clinical disease in mutation carriers, comparison of characteristics of AIPmut positive and negative patients, results of GNAS1, and FGFR4 analysis.
resultsThirty-seven FIPA families and 34 sporadic patients had AIPmuts. Patients with truncating AIPmuts had a younger age at disease onset and diagnosis, compared with patients with nontruncating AIPmuts. Somatic GNAS1 mutations were absent in tumors from AIPmut-positive patients, and the studied FGFR4 variant did not modify the disease behavior or penetrance in AIPmut-positive individuals. A total of 164 AIPmut-positive unaffected family members were identified; pituitary disease was detected in 18 of those who underwent clinical screening.
conclusionsA quarter of the AIPmut carriers screened were diagnosed with pituitary disease, justifying this screening and suggesting a variable clinical course for AIPmut-positive pituitary adenomas.
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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.