"A dicey situation:" asymptomatic hypertensive urgency caused by DICER1 mutation-derived cystic nephroma in a 12-month-old.

Erik A Brown, Arvind Subramaniam, Dmitry Tumin, Frances C Okolo, Cathleen Cook, Hostensia Beng-Ongey

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Article in Pediatric nephrology (Berlin, Germany), 2026. 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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6 authors.

Erik A BrownBrody School of Medicine, East Carolina University, Greenville, NC, 27834, USA. ebrowntoo@gmail.com.ORCID http://orcid.org/0009-0006-0380-6001

Arvind SubramaniamBrody School of Medicine, East Carolina University, Greenville, NC, 27834, USA.

Dmitry TuminBrody School of Medicine, East Carolina University, Greenville, NC, 27834, USA.

Frances C OkoloDepartment of Surgery, East Carolina University Health, Greenville, NC, 27834, USA.

Cathleen CookDepartment of Pediatrics, Division of Pediatric Hematology Oncology, Carilion Clinic, Roanoke, VA, 24014, USA.

Hostensia Beng-OngeyDepartment of Pediatric Nephrology, East Carolina University Health, Greenville, NC, 27834, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cystic nephroma (CN) in pediatric patients is a rare, benign, multi-lobular cystic mass often indicative of DICER1 tumor predisposition syndrome. This condition is caused by a germline mutation of the DICER1 gene and requires appropriate follow-up to monitor for other DICER1-associated tumors in the lungs, thyroid, ovaries, and kidneys. We describe a 12-month-old female who presented with hypertensive urgency in the setting of a new large abdominal mass ultimately diagnosed as a cystic nephroma. We discuss the successful management of the patient's hypertensive urgency with oral medication and resolution of her hypertension after a left nephrectomy. We also review differential diagnoses for large pediatric renal masses, appropriate treatments, work-up for patients with CN, and the necessary screening schedule for individuals with confirmed DICER1 tumor predisposition syndrome.

Indexed as

Cystic nephromaDICER1 tumor predisposition syndromeGenetic mutationHypertensionHypertensive urgencyPediatric kidney mass

Identifiers

PMID42704439

DOI10.1016/j.juro.2006.09.011

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