76. Von Hippel-Lindau syndrome in a patient with negative germline testing

The VHL gene is a tumor suppressor gene that plays a critical role in regulating cell growth and division. Pathogenic variants in the VHL gene can lead to the development of tumors in various organs, including the kidneys, adrenal glands, and pancreas. The most well-known disease associated with VHL gene pathogenic variants is von Hippel-Lindau disease (VHL disease), an inherited disorder that increases the risk of developing multiple tumors and cysts in different parts of the body.Here, we present the case of an individual with a clinical diagnosis of VHL disease where germline NGS testing results were negative twice, using genomic DNA obtained from both blood and saliva.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Patricia Hernandez, Andrea Stacy, Yang Cao Source Type: research