Correlation Study Between Gene Mutations And Clinical Characteristics Of Craniopharyngioma

Background:Recent exome sequencing studies of craniopharyngioma showed that adamantinomatous craniopharyngioma(ACP)and papillary craniopharyngioma(PCP)have different genetic origins,suggesting the occurrence of two types tumors driven by two mutually independent genetic mutations: mutations in BRAFV600 E are observed in 95% of PCP,and mutations in CTNNB1 are observed in 75%-96% of ACP.However,the correlation analysis between the changes of the two gene mutations and their related molecular expression levels and specific clinical indicators,imaging,etc.lacks a strong research report.Methods: Our prospectively recruit 36 patients who underwent craniopharyngioma surgery at the Sixth Medical Center of the PLA General Hospital and Sanbo Brain Hospital from October 2018 to December2019,and the surgically removed tumor tissue for gene sequencing and pathology detection.Results: Gene mutation is highly correlated with pathological typing.All tumors with BRAFV600 E mutation are PCP,all tumors with CTNNB1 mutation and87.5% of non-mutated tumors are ACP(P<0.001).Statistical differences between age differences(minors and adults)and mutation groups(P=0.0032).85% of the tumors in the CTNNB1 mutant group and 75% of the tumors in the non-mutated group were in the intrasellar-suprasellar type,and only 83.3% of the tumors in the BRAF mutant group were grown on the suprasellar-optic cross(P=0.018).Tumors in the CTNNB1 mutation group were mostly cystic,while mixed tumors in the BRAF mutation group appeared most(P<0.001).Conclusion: The mutation characteristics of craniopharyngioma can highly predict its histological classification.The age difference of patients,tumor growth mode and tumor cystic solidity can provide clinical basis for the identification of CTNNB1 and BRAFV600 E gene mutations.Background: Adamantinomatous craniopharyngioma(ACP)is a subtype of craniopharyngioma which is a neoplastic disease with a benign pathological phenotype but a poor prognosis in the sellar region.The disease has been considered as the most common congenital tumor in the skull.Therefore,the purpose of this article is to identify hub genes which might serve as genetic markers of diagnosis,treatment and prognosis of ACP.Methods: The procedure of this research includes acquisition of public data,identification and functional annotation of differentially expressed genes(DEGs),construction and analysis of PPI network,and the mining and analysis of hub genes by Spearman-rho test,multivariable linear regression,and receiver operator characteristic curve analysis.Results: Among 2 datasets,a total of703 DEGs were identified,which were mainly enriched in chemical synaptic transmission,cell adhesion,odontogenesis of dentin-containing tooth,cell junction,extracellular region,extracellular space,structural molecule activity,and structural constituent of cytoskeleton.The PPI network was composed of 4379 edges and 589 nodes.Its significant module had 10 hub genes,and SYN1,SYP and GRIA2 were significantly related with ACP.Conclusion: In a word,we find out the DEGs between ACP patients and normal samples,which are likely to play an important role in the development of the ACP.At the same time,these DEGs are of great value in the diagnosis and targeted therapy of tumors,and could even be mined as biological molecular targets for the diagnosis and therapy of ACP patients.