RESUMO
Objective:To screen and analyze the differentially expressed genes between lacrimal gland benign lymphoepithelial lesions (LGBLEL) and mucosa-associated lymphoid tissue (MALT) lymphoma.Methods:A cross-sectional study was performed.Ten consecutive patients were included in Beijing Tongren Hospital Affiliated to Capital Medical University from January 2015 to November 2017, including five patients with LGBLEL and five patients with MALT lymphoma.Clinical data and peripheral blood sample were collected from each patient.DNA was extracted from peripheral blood.The whole-exome sequencing (WES) was employed for gene sequencing.The BWA software was used for the screen of differentially expressed gene; GATK software was used to detect genomic variation; ANNOVAR software was used to annotate and predict the effects of the variation; Varscan software was used to analyze single nucleotide polymorphisms (SNPs) and insertion-deletions (InDels), and ExomeCNV software was used to identify copy number variations (CNVs). The mutated hub gene with the maximal clique centrality was screened out by the analysis of protein interaction network and construction of functional module network.This study was approved by an Ethics Committee of Beijing Tongren Hospital Affiliated to Capital Medical University.Written informed consent was obtained from each patient prior to any medical examination.Results:There was 16.63 Gb sequencing data per sample on average.Synonymous mutation and missense mutation were the most common SNPs mutation types in the LGBLEL group and MALT lymphoma group, and no significant difference was found in gene mumber of synonymous mutation and missense mutation between the two groups.The number of terminating codon missing mutation genes in the LGBLEL group was more than that in the MALT lymphoma group ( P<0.05). The most common InDels types were frameshift mutation, non-frameshift insertion and non-frameshift deletion, and there was no significant difference in gene number of InDels between the LGBLEL group and MALT lymphoma group.The number of exon CNVs was few in both two groups and showed no significant influence in final result.Six differentially expressed hub genes were found, including IGFN1, TCP10, SLC45A4, BTBD7, PHGR1 and PIEZ02. Conclusions:IGFN1, TCP10, SLC45A4, BTBD7, PHGR1 and PIEZ02 genes may participate in the development of LGBLEL into MALT lymphoma.
RESUMO
Background Idiopathic orbital inflammatory pseudotumor (IOIP) is a commom orbital disease,with serious eye symptoms and replase tendency,and its pathogenesis is still unclear.Nuclear factor-κB (NF-κB)-related proteins participate in many important pathophysiological process,however,whether NF-κB plays a role in the IOIP process is worthy of attention.Objective This study was to explore the roles of NF-κB pathway in IOIP pathogenesis.Methods Twenty-four IOIP specimens were collected during surgery in Beijing Tongren Hospital from September 2010 to May 2016.The histopathological characteristics of IOIP were examined by hematoxylin and eosin staining.The expression and location of NF-κB/p65,p-p65,p50 and inhibitor of κB (IκB-ot) were detected by immunohistochemistry and verified by immunocytochemistry and Western blot assay.Results The histopathological features of IOIP were numerous small lymphocyte infiltraion and fibrous tissue proliferation,and a lot of epithelioid cells were seen in lacrimal gland-involved specimens.NF-κB/p65 was positively expressed in the cytoplasm of all 24 specimens and the nucleus in 15 specimens with the expressing rate of 62.5％.p50 was expressed in the cytoplasm in 22 specimens with the expressing rate of 91.7％ and in the nucleus in 17 specimens with the expressing rate of 70.8％.The positive expression of p-p65 was found in 22 specimens with the expressing rate of 91.7％,and IκB-α was expressed in the cytoplasm of 11 specimens with the expressing rate of 45.8％.These results were confirmed by immunocytochemistry and Western blot assay.Conclusions NF-κB pathway is activiated during IOIP process,and NF-κB pathway may be involved in the pathogenesis of IOIP.