Year: 2022
Type: article
Study design: Case Report
Abstract: A 20-month-old female presented with a palpable abdominal mass. Imaging revealed bilateral renal masses and pulmonary nodules. The genetic evaluation identified a de novo 540kb X-chromosome deletion involving GPC3, PHF6, and HPRT1, and highly skewed X-inactivation (100:0). This clinical picture was suggestive of Wilms’ tumor in the setting of Simpson-Golabi-Behmel Syndrome.
Source: Surgical Case Reports
Authors: Zoe Baker, Andrew Cowan, Arthi Hannallah, Thalia Bajakian, Zoe Baker, Christopher Gayer, Shengmei Zhou, Andy Chang, Yuding Wang, Paul Kokorowski
Language: English
Topic: Renal and related cancers
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4289766455