<i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma

To determine predictive biomarkers for prognosis by analyzing the association between tumor mutational burden (TMB) and mutant genes in patients with oral squamous cell carcinoma (OSCC) and to validate <i>PCLO</i> as an OSCC predictive biomarker, OSCC genetic mutation data were downloade...

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Main Authors: Yuping Liu, Ye Zhang, Lijing Zhu, Zheng Zhou, Yajuan Cui, Heyu Zhang, Chuanxiang Zhou
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Current Issues in Molecular Biology
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Online Access:https://www.mdpi.com/1467-3045/47/6/426
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author Yuping Liu
Ye Zhang
Lijing Zhu
Zheng Zhou
Yajuan Cui
Heyu Zhang
Chuanxiang Zhou
author_facet Yuping Liu
Ye Zhang
Lijing Zhu
Zheng Zhou
Yajuan Cui
Heyu Zhang
Chuanxiang Zhou
author_sort Yuping Liu
collection DOAJ
description To determine predictive biomarkers for prognosis by analyzing the association between tumor mutational burden (TMB) and mutant genes in patients with oral squamous cell carcinoma (OSCC) and to validate <i>PCLO</i> as an OSCC predictive biomarker, OSCC genetic mutation data were downloaded from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC) database. Immune cell infiltration analysis and visualization were performed using R software. The relationships between overall survival (OS) and mutant genes or clinicopathological factors were investigated by Kaplan–Meier analysis and Cox regression analysis, respectively. Gene set enrichment analysis (GSEA) was used to explore the associations between mutant genes and functional pathways. Immunohistochemistry was performed to verify the presence of the piccolo protein in OSCC tissues. Finally, 17 mutated genes shared between TCGA and the ICGC database were detected. The TMB in the <i>PCLO</i>-mutated group was found to be significantly greater than that in the <i>PCLO</i> wild-type group, and <i>PCLO</i> mutation was associated with poor OS. Cox regression analysis revealed that <i>PCLO</i> is a significant prognostic factor for OSCC. GSEA and immune cell infiltration analysis revealed that <i>PCLO</i> is associated with the immune system, which suggests that <i>PCLO</i> mutation might affect the immune response. <i>PCLO</i> expression was considerably higher in OSCC tissues with <i>PCLO</i> mutations than in corresponding normal epithelium tissues and OSCC tissues without <i>PCLO</i> mutations (<i>p</i> < 0.05). <i>PCLO</i> mutation could serve as a promising predictive biomarker for prognosis in patients with OSCC.
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spelling doaj-art-d36bc516233d447e92a6de5223dd9d852025-08-20T03:27:18ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452025-06-0147642610.3390/cimb47060426<i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell CarcinomaYuping Liu0Ye Zhang1Lijing Zhu2Zheng Zhou3Yajuan Cui4Heyu Zhang5Chuanxiang Zhou6Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaDepartment of Stomatology, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, ChinaDepartment of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaDepartment of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaDepartment of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaCentral Laboratory, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaDepartment of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, ChinaTo determine predictive biomarkers for prognosis by analyzing the association between tumor mutational burden (TMB) and mutant genes in patients with oral squamous cell carcinoma (OSCC) and to validate <i>PCLO</i> as an OSCC predictive biomarker, OSCC genetic mutation data were downloaded from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC) database. Immune cell infiltration analysis and visualization were performed using R software. The relationships between overall survival (OS) and mutant genes or clinicopathological factors were investigated by Kaplan–Meier analysis and Cox regression analysis, respectively. Gene set enrichment analysis (GSEA) was used to explore the associations between mutant genes and functional pathways. Immunohistochemistry was performed to verify the presence of the piccolo protein in OSCC tissues. Finally, 17 mutated genes shared between TCGA and the ICGC database were detected. The TMB in the <i>PCLO</i>-mutated group was found to be significantly greater than that in the <i>PCLO</i> wild-type group, and <i>PCLO</i> mutation was associated with poor OS. Cox regression analysis revealed that <i>PCLO</i> is a significant prognostic factor for OSCC. GSEA and immune cell infiltration analysis revealed that <i>PCLO</i> is associated with the immune system, which suggests that <i>PCLO</i> mutation might affect the immune response. <i>PCLO</i> expression was considerably higher in OSCC tissues with <i>PCLO</i> mutations than in corresponding normal epithelium tissues and OSCC tissues without <i>PCLO</i> mutations (<i>p</i> < 0.05). <i>PCLO</i> mutation could serve as a promising predictive biomarker for prognosis in patients with OSCC.https://www.mdpi.com/1467-3045/47/6/426oral squamous cell carcinoma<i>PCLO</i>tumor mutation burdenimmune cell infiltrationpiccolo
spellingShingle Yuping Liu
Ye Zhang
Lijing Zhu
Zheng Zhou
Yajuan Cui
Heyu Zhang
Chuanxiang Zhou
<i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
Current Issues in Molecular Biology
oral squamous cell carcinoma
<i>PCLO</i>
tumor mutation burden
immune cell infiltration
piccolo
title <i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
title_full <i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
title_fullStr <i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
title_full_unstemmed <i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
title_short <i>PCLO</i> Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma
title_sort i pclo i is associated with tumor mutational burden and immunity in patients with oral squamous cell carcinoma
topic oral squamous cell carcinoma
<i>PCLO</i>
tumor mutation burden
immune cell infiltration
piccolo
url https://www.mdpi.com/1467-3045/47/6/426
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