Evidence map›Paper›PMID 41518596›Full record

ArticleThe Journal of clinical endocrinology and metabolism2026

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

Yasemin Cole, Sophie Howarth, Asna Javaid, Patrick Tarpey, Daniel Scoffings, Eamonn R Maher, Anna L Godfrey, Karel Pacak, Zhengping Zhuang, Hussam Alkaissi and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Yasemin ColeDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0002-9492-5885
Sophie HowarthDepartment of Endocrinology, Cambridge University Hospital, Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Asna JavaidMolecular Genetic Laboratories, Cambridge University Hospital, Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Patrick TarpeyMolecular Genetic Laboratories, Cambridge University Hospital, Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Daniel ScoffingsDepartment of Radiology, Cambridge University Hospital, Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Eamonn R MaherDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
Anna L GodfreyDepartment of Haematology, Cambridge University Hospitals, NHS Foundation Trust, Cambridge CB2 0QQ, UK.
Karel PacakSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Zhengping ZhuangNeuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0009-7370
Hussam AlkaissiNational Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-0861-9348
Ruth T CaseyDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0003-4058-3135

Funding

Department of Health and Social CareGates Cambridge Scholars ProgramNational Cancer Institute (NCI)National Heart, Lung, and Blood Institute (NHLBI)National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)National Institute of Neurological Disorders and Stroke (NINDS)NICHDNIHNIH Oxford-Cambridge Scholars ProgramNIHRNIHR Cambridge Biomedical Research Centre NIHR203312Paradifference FoundationUS Department of Health and Human ServicesUS government
6 · The paper itself

Abstract

contextSince the original discovery of the Pacak-Zhuang syndrome (PZS) in 2012, defined by the clinical triad of pheochromocytoma/paraganglioma (PPGL) and/or duodenal ampullar somatostatinoma with erythrocytosis, multiple multisystemic phenotypes have been identified in patients with somatic mosaic pathogenic variants in EPAS1/HIF2A. Deep phenotyping of patients along with evaluation of a transgenic murine model has led to the understanding of the role of HIF-2α in developmental processes, including tumor development. Interestingly, pancreatic neuroendocrine tumors (NETs) occur in von Hippel-Lindau disease and the VHL gene product regulates HIF-2α expression.

objectiveCharacterize pancreatic NETs in PZS.

methodsWe have reviewed the clinical records in the index patient at Addenbrooke's Hospital (UK) and a cohort of patients with PZS from the NIH were assessed for pancreatic NETs.

resultsHerein, we describe a novel series from two institutions of patients with EPAS1-associated pancreatic neuroendocrine tumors including a case of a nonfunctioning pancreatic NET in association with an EPAS1 somatic mosaic variant.

conclusionThis case study extends our current understanding of the phenotypic spectrum in PZS and links pancreatic NETs to an additional hypoxia-associated gene, namely EPAS1.

Indexed as

Adrenal Gland NeoplasmsBasic Helix-Loop-Helix ProteinsNeuroendocrine TumorsPancreatic NeoplasmsParagangliomaPheochromocytomaPolycythemiaSomatostatinomaAdultAgedEndothelial PAS Domain-Containing Protein 1FemaleHumansMaleMiddle AgedPhenotypeBasic Helix-Loop-Helix ProteinsEndothelial PAS Domain-Containing Protein 1EPAS1genotype-phenotypepancreatic neuroendocrine tumorparaganglioma/pheochromocytoma

Identifiers

PMID41518596
PMCPMC13183419

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.