Evidence map›Paper›PMID 40090593›Full record

ArticleUrology2025

Characterization of the Pheochromocytoma-Predominant Subgroup of von Hippel-Lindau Disease.

Julie R Solomon, Keith A Lawson, Cathy D Vocke, Laura S Schmidt, Christopher J Ricketts, W Marston Linehan, Mark W Ball

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Article in Urology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Julie R SolomonUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Keith A LawsonUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Cathy D VockeUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Laura S SchmidtUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD; Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD.
Christopher J RickettsUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
W Marston LinehanUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Mark W BallUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address: mark.ball@nih.gov.

Funding

Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

objectiveTo define a classification schema for von Hippel-Lindau (VHL) patients who have a pheochromocytoma predominant phenotyope. MATERIALS AND

methodsVHL patients who underwent adrenalectomy with pathology-proven pheochromocytoma at our institution were included. We defined pheochromocytoma-predominant VHL a priori as patients with one or more of the following traits: early onset [age at first pheochromocytoma below the cohort's median age (28.2years)], family history of pheochromocytomas, multiple pheochromocytomas, and paraganglioma(s). Patients with pheochromocytoma-predominant disease were compared to the remaining cohort to determine differences in genotype and phenotype.

resultsOne-hundred thirty-nine VHL patients were examined. Preliminary analysis showed that three characteristics (early onset, family history, and multiple pheochromocytomas) were associated. Having paraganglioma(s) did not correlate with the other factors, so it was excluded from the definition of pheochromocytoma-predominant disease. The majority of our patients (110/139, 79%) met the final definition. Pheochromocytoma-predominant patients were less likely to have most additional VHL tumor types, including renal cell carcinoma (P<.001) whereas they were more likely to have missense mutations (P<.001) than the remaining cohort. Overall, pheochromocytoma-predominant patients were most likely to have 0 (P<.001) or 1 (P=.008) extra-adrenal tumor types while non-pheochromocytoma-predominant patients were most likely to have 4 (P=.02) or 5 (P=.02).

conclusionPheochromocytoma-predominant VHL patients are phenotypically distinct from their non-pheochromocytoma-predominant counterparts and are significantly less likely to have more than one other VHL manifestation, including renal carcinoma.

Indexed as

Adrenal Gland NeoplasmsPheochromocytomavon Hippel-Lindau DiseaseAdolescentAdrenalectomyAdultChildFemaleHumansMaleMiddle AgedPhenotypeRetrospective StudiesVon Hippel-Lindau Tumor Suppressor ProteinYoung AdultVon Hippel-Lindau Tumor Suppressor Protein

Identifiers

PMID40090593
PMCPMC12146059

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