JOURNAL ARTICLE

A case of nephroblastoma with inferior vena cava invasion arising in a patient with Smith–Magenis syndrome.

  • Published In: Pediatrics International, 2025, v. 67, n. 1. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Miyake, Hiromu; Kawaguchi, Koji; Ito, Hiroki; Shimizu, Kenji; Watanabe, Kenichiro 3 of 3

Abstract

The article focuses on a case study of a 5-year-old girl diagnosed with mixed-type nephroblastoma, which extended into the inferior vena cava (IVC) and was associated with Smith–Magenis syndrome (SMS). The patient underwent successful tumor removal without cardiopulmonary bypass, utilizing a technique that preserved blood flow from the middle and left hepatic veins, which stabilized hemodynamics during surgery. Genetic analysis revealed an interstitial deletion on chromosome 17p11.2, leading to the diagnosis of SMS, while the FLCN gene, typically associated with other renal tumors, was intact. This case highlights the unique surgical approach and the need for further research into the relationship between nephroblastoma and genetic variations in SMS. [Extracted from the article]

Additional Information

  • Source:Pediatrics International. 2025/01, Vol. 67, Issue 1, p1
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:1328-8067
  • DOI:10.1111/ped.70220
  • Accession Number:190445270
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