Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.

ABSTRACT:

Background

von Hippel-Lindau (VHL) disease has a hereditary, autosomal dominant pattern, and multiple tumors can develop in multiple organs of a single patient. However, the exact mechanisms of tumorigenesis are unclear, and further studies are needed to clarify whether the same signaling pathways are involved in different VHL-related tumors.

Methods

Whole-exome sequencing (WES) of tumor and paired peripheral blood samples were performed for a VHL disease pedigree. A bioinformatics analysis was conducted to identify candidate somatic single-nucleotide variants (SNVs) present in all tumor tissues. Sanger sequencing was then used to validate the SNVs identified using WES. Immunohistochemistry was performed to analyze components of the mTOR pathway, which was abnormally activat

SUBMITTER: Guo X 

PROVIDER: S-EPMC6732316 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature