Evidence map›Paper›PMID 40063608›Full record

ArticleThe oncologist2025

"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.

Michael N Trinh, Lauren Bear, Brian V Nahed, Othon Iliopoulos

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The oncologist, 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. Review
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

4 authors.

Michael N TrinhDivision of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.
Lauren BearDivision of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.
Brian V NahedDepartment of Neurosurgery, Massachusetts General Hospital, Boston, MA 02114, United States.
Othon IliopoulosDivision of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.ORCID 0009-0005-3709-7971

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single institution case series of 6 otherwise healthy individuals with "incidental" Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease-associated tumors. The penetrance and expressivity of such incidental variants are not currently known, and therefore, no surveillance guidelines exist. Nevertheless, the association of these variants historically with high disease penetrance compels us to currently recommend active surveillance of their carriers with annual imaging of the brain, spine, and abdomen.

Indexed as

von Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinAdultFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansIncidental FindingsMaleMiddle AgedPhenotypeVHL protein, humanVon Hippel-Lindau Tumor Suppressor Proteingermline pathogenic variantshemangioblastomarenal cancerVon Hippel Lindau (VHL) disease

Identifiers

PMID40063608
PMCPMC11892557

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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.