Evidence map›Paper›PMID 40300997›Full record

ArticleEuropean journal of endocrinology2025

Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.

Dipika R Mohan, Ticiana Paes, Jacobo Buelvas Mebarak, David M Meredith, Beatriz Soares, Victor Vaz, Rona S Carroll, Ursula B Kaiser, Timothy R Smith, Wenya L Bi and 2 more

Abstract read
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In one paragraph

Article in European journal of endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

12 authors.

Dipika R MohanDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Ticiana PaesDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.ORCID 0000-0003-3078-5200
Jacobo Buelvas MebarakDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
David M MeredithDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-7054-8624
Beatriz SoaresDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Victor VazDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Rona S CarrollDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Ursula B KaiserDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Timothy R SmithCenter for Skull Base and Pituitary Surgery, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Wenya L BiCenter for Skull Base and Pituitary Surgery, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Antonio M LerarioDepartment of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, United States.
Ana Paula AbreuDepartment of Medicine, Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-5505-0852

Funding

Reproductive physiology of gonadotropin synthesisR37HD019938 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI Ursula B. Kaiser · 2019 to 2026
$4.3M
Brigham and Women's Hospital's Brigham Research Institute PilotNICHD NIH HHS R37 HD019938Oliver Langenberg Physician-Scientist Training Program
6 · The paper itself

Abstract

objectivePituitary adenomas (PAs) are common neoplasms. Our current understanding of the molecular basis of PA formation is incomplete. Routine implementation of targeted genomics has enabled the discovery of rare, potentially clinically actionable events.

methodsWe used a cancer-focused gene panel to sequence a cohort of 171 PAs from patients who underwent surgery at Brigham and Women's Hospital from 2012 to 2020.

resultsWe identified known genetic variants enriched in specific PA subtypes: GNAS (somatotroph) and USP8 (Cushing's disease). Total mutational burden did not vary across adenoma subtypes; most adenomas possessed a few non-recurrent mutations in various established oncogenes and tumor suppressors. In contrast, the burden of copy number alterations varied widely across adenoma subtypes and was associated with higher MIB1 labeling index. We identified frequent deletions spanning MEN1 in prolactinomas and silent corticotroph adenomas, and subtype-specific copy number changes including 16p, 16q alterations in somatotroph adenomas without GNAS mutations. Within the corticotroph lineage, adenomas leading to Cushing's disease had few copy number alterations while silent corticotroph adenomas had numerous.

conclusionsThis study highlights a role for individualized genetic events in PA formation and suggests that divergent patterns of genomic instability may facilitate tumorigenesis even within the same lineage. Taken together, we demonstrate how gene panels may illuminate novel biology in endocrine tumors.

Indexed as

AdenomaDNA Copy Number VariationsMutationPituitary NeoplasmsAdultAgedChromograninsCohort StudiesEndopeptidasesEndosomal Sorting Complexes Required for TransportFemaleGTP-Binding Protein alpha Subunits, GsHumansMaleMiddle AgedUbiquitin ThiolesteraseChromograninsEndopeptidasesEndosomal Sorting Complexes Required for TransportGNAS protein, humanGTP-Binding Protein alpha Subunits, GsUbiquitin ThiolesteraseUSP8 protein, humancancer geneticscopy number alterationspituitary adenomastargeted genomics

Identifiers

PMID40300997
PMCPMC13138838

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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.