Evidence map›Paper›PMID 41364279›Full record

ArticlePituitary2025

From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.

Cécilia Piazzola, Lauriane Le Collen, Théo Charnay, Bénédicte Decoudier, Frédérique Albarel, Nicolas Macagno, Frédéric Castinetti, Anne Barlier, Brigitte Delemer, Pauline Romanet and 1 more

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In one paragraph

Article in Pituitary, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Cécilia Piazzola *Department of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France.
Lauriane Le Collen *Department of Biochemistry, Federative Institute of Biology, University Hospital Center of Toulouse, Toulouse, 31059, France.
Théo CharnayAix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France.
Bénédicte DecoudierDepartment of Endocrinology Diabetology, University of Reims, Reims, France.
Frédérique AlbarelAssistance Publique Hôpitaux de Marseille, Hôpital la Conception, Endocrinology Departement, Centre de Reference Maladie Rare HYPO, Marseille, France.
Nicolas MacagnoAix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of pathology, Marseille, France.
Frédéric CastinettiDepartment of Endocrinology, Centre de Référence Maladie Rare HYPO, MARMARA Institute, Aix Marseille University, APHM, INSERM, MMG, La Conception University Hospital, Marseille, France.
Anne BarlierAix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France.
Brigitte DelemerDepartment of Endocrinology Diabetology, University of Reims, Reims, France.
Pauline RomanetAix Marseille University, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Faculté SMPM, 27 bd Jean Moulin, Marseille cedex 05, 13385, France. pauline.romanet@univ-amu.fr.
Auragen ConsortiumGCS AURAGEN, Lyon, 69003, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

contextCarney Complex (CNC) is a rare multiple endocrine neoplasia syndrome, due to PRKAR1A mutation, that causes GH-secreting pituitary adenomas (PA) in 10% of patients. PRKAR1A is not currently analyzed in patients with isolated sporadic or familial PA, in contrast to MEN1 or AIP.

objectiveWe report the case of a young man diagnosed with a PA at age 21 during melanoma follow-up, with a family history of PA. He was initially misdiagnosed with FIPA due to a misclassified AIP mutation, before a final diagnosis of CNC was established. We subsequently retrospectively analysed PRKAR1A in a cohort of patients with PA to assess the relevance of includingPRKAR1A in PA predisposition gene panels.

methodsAfter AIP variant reclassification and whole genome analysis of the patient, we performed a retrospective analysis of the genetic and clinical data of patients who underwent germline genetic testing for hereditary predisposition to PA.

resultsTwo hundred and twenty patients were included, of whom 16 (7.3%) had a family history of PA, 162 (72.7%) had macro-PA, and 54 (24.6%) had GH- or GH/PRL-secreting PA. Four patients (1.8%) carried pathogenic variants in AIP or MEN1, but none in PRKAR1A.

conclusionThis case underscores the importance of periodically reassessing genetic variants, as reclassification can significantly impact patient management. It also highlights the clinical variability of CNC and the need to screen for CNC features in young patients with acromegaly. Further research is warranted to determine the value ofPRKAR1A testing in isolated GH- and GH/PRL-secreting PA.

Indexed as

Carney ComplexCyclic AMP-Dependent Protein Kinase RIalpha SubunitPituitary NeoplasmsGenetic Predisposition to DiseaseHumansIntracellular Signaling Peptides and ProteinsMaleRetrospective StudiesYoung Adultaryl hydrocarbon receptor-interacting proteinCyclic AMP-Dependent Protein Kinase RIalpha SubunitIntracellular Signaling Peptides and ProteinsPRKAR1A protein, humanAcromegalyAIP variantCarney complexFamilial isolated pituitary adenomaVariant reclassification

Identifiers

PMID41364279

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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.