Whole exome sequencing study of adamantinomatous craniopharyngioma reveals the mutational characteristics of recurrent cases.

ABSTRACT:

Purpose

Adamantinomatous craniopharyngioma (ACP) is a benign but surgically challenging intracranial tumor, and its high postoperative recurrence rate poses a threat to patient prognosis. In this study, whole exome sequencing (WES) was performed to comprehensively understand the genomic alterations in ACP.

Methods

First, the gene mutation profile of ACP was acquired through an overview of the WES data. The somatic single nucleotide variants (SNV) mutational spectrum and signature of ACP were analyzed. Subsequently, somatic mutation data were used to identify the characteristic SNV of recurrent ACP to further explore the mechanism underlying recurrence, and the effect of these mutations on protein expression was verified through immunohistochemical and immunofluorescence anal

SUBMITTER: Chen D 

PROVIDER: S-EPMC12367868 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature