A Case of an Adult Wilms Tumour in a Patient With Velocardiofacial Syndrome

Elizabeth Ferreira; Mohammad Mohaghegh; Siv Venkat; Darrel Drachenberg; Susan Battistuzzi; Shuying Ji

doi:10.1016/j.urology.2019.12.019

A Case of an Adult Wilms Tumour in a Patient With Velocardiofacial Syndrome

Urology. 2020 Mar:137:e8-e9. doi: 10.1016/j.urology.2019.12.019. Epub 2019 Dec 27.

Authors

Elizabeth Ferreira¹, Mohammad Mohaghegh², Siv Venkat², Darrel Drachenberg², Susan Battistuzzi³, Shuying Ji⁴

Affiliations

¹ Department of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address: ferreieo@myumanitoba.ca.
² Department of Surgery, Urology Section, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
³ Department of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada; Department of Pathology, St. Boniface Hospital, Shared Health, Winnipeg, Manitoba, Canada.
⁴ Department of Pathology, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada; Department of Pathology, Health Sciences Centre, Shared Health, Winnipeg, Manitoba, Canada.

PMID: 31883877
DOI: 10.1016/j.urology.2019.12.019

Abstract

Adult Wilms tumors (nephroblastomas) are exceedingly rare with less than 500 cases reported in the literature. To our knowledge, ours is the first reported case of a patient with velocardiofacial syndrome (Shprintzen syndrome) acquiring an adult Wilms tumor. The case highlights the possible role of chromosome 22q aberrations toward the pathogenesis of a subset of Wilms tumors.

Publication types

Case Reports

MeSH terms

Adult
DiGeorge Syndrome / complications*
Female
Humans
Kidney Neoplasms / complications*
Wilms Tumor / complications*