Histologic Patterns and Germline Genetic Testing Outcomes in Presumed Sporadic Bilateral Renal Masses

Among patients with BRMs with apparently sporadic etiology, strong concordance between bilateral histologies was observed. Although guidelines recommend genetic counseling for all patients with BRMs, our findings suggest that testing was underutilized and diagnostic yield was low, particularly for high-risk mutations (eg, von Hippel-Lindau or fumarate hydratase-deficient renal cell carcinoma). These findings suggest that genetic testing for patients with BRMs could be considered selectively, prioritizing patients with extrarenal manifestations, family history, young age, or pathology suspicious for hereditary etiology.

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Publication Details

Journal
Urology Practice
Published
2026-01-08
DOI
https://doi.org/10.1097/upj.0000000000000968
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
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article

Histologic Patterns and Germline Genetic Testing Outcomes in Presumed Sporadic Bilateral Renal Masses

Rebecca A. Campbell, Kieran Lewis, N. Almassi, Jason M. Scovell et al.
Urology Practice
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Histologic Patterns and Germline Genetic Testing Outcomes in Presumed Sporadic Bilateral Renal Masses

Rebecca A. Campbell, Kieran Lewis, N. Almassi, Jason M. Scovell, Akira Kazama, Samuel Haywood, Anne Wong, Jane Nguyen, Jayant Siva, Eran Maina, Amy S. Nowacki, Angelica Bartholomew, Steven C. Campbell, Carlos Munoz Lopez, Robert Abouassaly, Nityam Rathi
article en

Abstract

Among patients with BRMs with apparently sporadic etiology, strong concordance between bilateral histologies was observed. Although guidelines recommend genetic counseling for all patients with BRMs, our findings suggest that testing was underutilized and diagnostic yield was low, particularly for high-risk mutations (eg, von Hippel-Lindau or fumarate hydratase-deficient renal cell carcinoma). These findings suggest that genetic testing for patients with BRMs could be considered selectively, prioritizing patients with extrarenal manifestations, family history, young age, or pathology suspicious for hereditary etiology.

Urology Practice
West Virginia University (US), Cleveland Clinic (US), Niigata University (JP)
Openalex Percentile: Top 94%
Genetic and Kidney Cyst Diseases
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