Unveiling PAK4 as a Key Biomarker in Adrenocortical Carcinoma: Insights from Bioinformatics and Experimental Evidence

Qiancheng Mao1,1, Ming Liu1,1, Xidong Wang1, Hongquan Liu1, Weiyi Chen2, Shangjing Liu1, Guixin Ding1, Yuanshan Cui1,*, Jitao Wu1,*

1 Department of Urology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, 264000 Yantai, Shandong, China

2 Department of Pathology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, 264000 Yantai, Shandong, China

*Correspondence: yhdcuiyuanshan@163.com (Yuanshan Cui); wjturology@163.com (Jitao Wu)

+ These authors contributed equally. Published: 28 November 2025

Background: Adrenocortical carcinoma (ACC) is a rare and fatal adrenal cortex cancer with a poor prognosis and high mortality rate. Although surgical resection is the primary treatment for ACC, recurrence is still common. p21-activated kinase 4 (PAK4) is linked to tumour development and progression, being overexpressed in various cancers. However, the role of PAK4 in ACC remains unclear.

Methods: In this study, PAK4 expression in ACC was analysed using sequencing data from the Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases, assessing its clinical relevance with Kaplan-Meier, Cox regression, receiver operating characteristic (ROC) curve and prognostic nomogram models. Functional enrichment of PAK4-related genes was explored using protein-protein interaction (PPI) networks, Gene Ontology (GO)/Kyoto Encyclopedia of Genes and Genomes (KEGG) and gene set enrichment analysis (GSEA). The association between PAK4 messenger RNA (mRNA) expression and immune infiltration was examined via Tumor Immune System Interaction Database (TISIDB). Finally, immunohistochemistry was used for tissue validation.

Results: In the GEO and TCGA databases, PAK4 expression was significantly higher in ACC tissues than in normal samples (p < 0.05). High PAK4 levels were associated with poor prognosis, including shorter overall survival, disease-specific survival and progression-free interval (p < 0.05). Elevated PAK4 expression correlated with advanced T, N and M stages (p < 0.05), indicating increased malignancy in ACC. A PPI network predicted associations between PAK4 and its targets, whereas GSEA linked PAK4 to the Hedgehog signalling pathway and cell proliferation (p < 0.05). The upregulation of PAK4 was also connected to immune regulation and tumour-infiltrating immune cells such as T cells, B cells and mast cells (p < 0.05). Immunohistochemistry confirmed high PAK4 expression in ACC (p < 0.001).

Conclusions: PAK4 is significantly overexpressed in ACC, and it may play a carcinogenic role, showing great application potential as a potential therapeutic target and an independent prognostic biomarker of ACC.

Keywords: adrenocortical carcinoma; PAK4; prognostic; immune infiltration; biomarkers

Introduction

Adrenocortical carcinoma (ACC) is a rare adrenal ma- lignancy with an incidence of 1-2 cases per million annu- ally [1,2]. Despite its rarity, ACC has severe symptoms, a poor prognosis, and high mortality [3]. Most patients are di- agnosed at advanced stages, resulting in a five-year survival rate below 15% [4]. ACC is highly invasive and hetero- geneous, causing diverse clinical manifestations. Most pa- tients show signs of excessive adrenocortical hormones [5]. Surgery is the primary treatment, but recurrence is common even after complete tumor removal.

p21-activated kinase 4 (PAK4), a serine/threonine p21-activated kinase family member and key Cdc42/Rac

effector, is linked to tumorigenesis and crucial in signal- ing pathways [6,7]. The PAK family, comprising six pro- teins divided into Group I (PAK1-3) and Group II (PAK4- 6) based on structural and sequence differences [8], has dis- tinct cellular functions. PAK4, a 591-amino acid protein and commonly studied PAK member [9], regulates cell prolif- eration, migration, cytoskeletal organization, survival, mor- phology, and the cell cycle [10,11]. Studies show that PAK4 is overexpressed in various tumors, with its dysregulation being a key factor in cancer progression.

As PAK4 drives tumour progression, its potential as a diagnostic and therapeutic target is gaining attention, with preclinical studies showing promise. PAK4 inhibitors such as LCH-7749944, PF3758309 and KPT-9274/7189 can sup-

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press gastric cancer cell proliferation, lung cancer metas- tasis and pancreatic ductal adenocarcinoma, respectively [12-14]. However, the role of PAK4 in ACC remains un- known. Thus, this study aimed to explore PAK4’s mech- anistic contribution to ACC to validate its diagnostic and therapeutic potential.

Materials and Methods

Data Acquisition

Using the UCSC Xena platform (https://xena.ucsc.ed u/), the information from 79 ACC tumour samples ob- tained from The Cancer Genome Atlas (TCGA) and 128 normal tissue samples obtained from GTEx (http://comm onfund.nih.gov/GTEx) was compared. In addition, expres- sion validation was performed using the datasets GSE90713 and GSE10927 from the Gene Expression Omnibus (GEO) database. Detailed clinical information of the ACC samples was obtained from TCGA.

Construction of a Protein-Protein Interaction (PPI) Network

STRING (http://string-db.org) is a powerful platform dedicated to constructing protein networks. In this study, STRING was utilised to build the PAK4 PPI network, with data sources such as “Textmining”, “Experiments”, “Databases”, “Co-expression”, “Neighborhood”, “Gene Fusion” and “Co-occurrence”. The minimum required in- teraction score was set to medium confidence (0.400), and the maximum number of interactors to show was limited to no more than 10. GeneMANIA (https://genemania.org) was also leveraged to construct an interaction network for the PAK4 gene. This online tool enables us to analyse gene interactions by simply inputting the PAK4 gene.

Exploration of Enrichment Pathways and Functional Mechanisms

Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses as well as gene set enrichment analysis (GSEA) of PAK4 gene expression were conducted using clusterProfiler soft- ware (version 3.6.3, an open-source R package distributed through the BioConductor project (https://bioconductor.o rg) which is maintained by the BioConductor Team and Fred Hutchinson Cancer Research Center, Seattle, WA, USA) in R. The samples were divided into high- and low- PAK4-expression groups based on expression levels, with the top 50% as the high-expression group and the bot- tom 50% as the low-expression group. Differentially ex- pressed genes (|logFC| >2, padj <0.01) were selected be- tween these groups for analysis. Using the GSEA func- tion in clusterProfiler, GSEA was performed on the basis of the hallmark and KEGG metabolic gene sets, calculating the normalised enrichment score for each gene set and con- ducting significance and multiple-hypothesis testing. These

tests assessed the enrichment degree of gene sets in the two groups, thereby contributing to the identification of sig- nificantly different biological processes or metabolic path- ways.

Immune Infiltration

Tumor Immune System Interaction Database (TISIDB) (http://cis.hku.hk/TISIDB/) and Timer (https://cistrome.shinyapps.io/timer/) are online platforms for systematically analysing tumour-infiltrating immune cells, integrating data from several tumour samples to analyse immune cell content and distribution. GEPIA (http://gepia.cancer-pku.cn/index.html) is a similar tool for analysing gene expression patterns in tumours, exploring gene correlations via large-scale public gene expression data. In this study, TISIDB, Timer and GEPIA were used to explore the relationship of PAK4 with immune-related molecules and cells in ACC. Spearman correlation analysis was also used to compare immune cell infiltration levels between PAK4-high and low-expression subgroups and assess the correlation between PAK4 expression and different immune cell infiltration concentrations.

Immunohistochemical (IHC) Analysis

Human ACC tissues were processed into paraffin- embedded specimens, which were then dewaxed, washed and subjected to antigen retrieval. The tissues were in- cubated overnight with a PAK4 antibody (1:100, Sangon, Shanghai, China) at 4 ℃, followed by incubation with a bi- otinylated secondary antibody. Subsequently, diaminoben- zidine staining was performed for colour development. Af- ter dehydration, the slides were mounted, and microscopic images were acquired. The IHC staining results were inde- pendently assessed by two pathologists.

Statistical Analysis

Bioinformatics data were analysed using R (v4.2.1, R Core Team and the R Foundation for Statistical Computing, Vienna, Austria). Comparisons between two groups were performed using Student’s t-test for normally distributed variables or the Wilcoxon rank sum test for non-normal or heterogeneous distributions. Associations between PAK4 and clinical characteristics were evaluated via Chi-squared test with Yates’ correction, which assesses categorical vari- able relationships by comparing observed and expected fre- quencies. PAK4 expression correlations were analysed us- ing Spearman’s rank correlation. Results with p < 0.05 were considered statistically significant.

Results

Expression Landscape and Expression Pattern of PAK4 in Pan-Cancer Perspective

PAK4 is associated with multiple organs, tissues, cells and diseases. Using the Open Target Platform, the involve-

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Fig. 1. mRNA expression profile of PAK4 in human organs, tissues and diseases. (A) PAK4-associated diseases obtained by the Open Target Platform. (B) Details of PAK4 mRNA expression in different tissues. (C) Details of PAK4 mRNA expression in different tissue cell lines.

A

cancer.or benign tumor

ereditar breast ovarian cancer vndrom

edita breast and ovarian cancer ndror

prostate carcinoma

cutaneous melanoma

neoplasm

prostate cancer

lung enocarcinor

Familial prostate cancer

tegumentary system.disease

realt breast and ovarian cancer ndrom

nervous system disease

cutaneous melanoma

mune system disease neuroinflammatory disorder

reante breast and ovarian cancer ndmor

neurodegenerative disease

neuroinflammatory disorder

productive.aystem.or breast disease Familial prostate cancer

wiehetic. familial or congentest Familial prostate cancer

redita breast and ovarian cancer ndror

prostate cancer

system

Familial prostate cancer

Lor thora

reditu breast and and ovarian cancer

prostate carcinoma

lung enocarcinor

genetic disorder

ereditar breast cancer vndrom

0

2

4

S

8

10

12

14

0

2

1

0

B

10

12

14

B

Bone marrow Bone

C

Connective Tissue

STACYSAL CIELL

Lung

Adipose tissue

Esophagus

Intestine

Lymphocyte

Digestive System

Liver

HEPATIC STELLATE CELL

Breast/Mammary

Pancreas

Stomach

Granulocytic

GHETINIC EPITHELIAL CELL

H

Fibroblast

H

Lymphoid

Prostate

LACAP

BU143

H

Immune System

062

Myeloid

Other

Spleen

Thymus

Kidney

ALPHA TREI 298

Integumentary System Skin

Blood

H

Skeletal muscle

WHELANOCYTE

HELATS

System Muscular System

Ovary

Smooth muscle

SARRAART SECICHOTTM ROLESCILE

W

Skin

HORSCULAA SMOOTH MUSCLE

Sarcoma

Cell line

CNS

8

Lymphoid

Colon

OCT118

Nervous System

Cervix

Eye

PORS

PNS

Brain

0

Respiratory System

Lung

Bone

Trachea

Uterus

TRACHEA

Breast

Pancreas

HN

TORACI

ARTARRAY GLAND

Neuroblastoma

H

Kidney

Macrophage

Urogenital/Reproductive System

UNST

REML CORTEE

9.6

Liver

Ovary

OOCYTE

Keratinocyte

MARCAT

Testis

Glial

Connective

Cardiovascular System Heart

Bone marrow

.00

Bladder

ONGI OLL

U

· T34

ment of PAK4 in various systemic diseases was explored (Fig. 1A). In addition, PAK4 expression was observed in tissues and cells such as liver, lung and bladder cancer cell lines (Fig. 1B,C). To further investigate PAK4 expres- sion across different cancer types, TCGA pan-cancer data were analysed against healthy tissues (Fig. 2A). PAK4 was highly overexpressed in 22 out of 33 cancer types, includ- ing ACC, but downregulated in six cancer types (p < 0.05). This trend indicates abnormal PAK4 expression in many tumours. In particular, PAK4 expression in ACC tissues was significantly higher than that in normal adrenal tissues,

as confirmed by the GTEx + TCGA and external datasets GSE90713 and GSE10927 (p < 0.05, Fig. 2B-D). These findings indicate the potential application of PAK4 as a po- tential biomarker of ACC.

Correlation between PAK4 Expression and Clinical-Pathological Features of ACC

Subgroup analysis was conducted on the relation- ship between the expression of PAK4 and various clinical- pathological features of ACC. In patients with ACC, high PAK4 expression correlates with advanced T, N and M

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Fig. 2. Expression levels of PAK4 in various human cancers. (A) Expression of PAK4 in different types of tumours compared with normal tissues based on the TCGA database. (B) Differences in PAK4 expression between ACC tissues and adjacent healthy tissues. (C,D) Differences in PAK4 expression between ACC and normal samples in GSE90713 and GSE10927 (*p < 0.05, and *** p < 0.001). ACC, adrenocortical carcinoma.

A

10


*



1

The expression of PAK4 Log2 (TPM+1)

*

8




3







6


S Normal


₿ Tumor

4

2

0

ACC

BLCA

BRCA

CESC

CHOL

COAD

DLBC

ESCA

GBM

HNSC

KICH

KIRC

KIRP

LAML

LGG

LIHC

LUAD

LUSC

MESO

OV

PAAD

PCPG

PRAD

READ

SARC

SKCM

STAD

TGCT

THCA

THYM

UCEC

UCS

UVM

B

C

D

GSE90713

GSE10927



6

The expression of PAK4 Log2 (TPM+1)

11.5

3.5

11.0

4

10.5

3.0

2

10.0

2.5

9.5

0

Normal

Tumor

normal

tumor

normal

tumor

stages, as well as high pathological stages (p < 0.05, Fig. 3A-C,E). Moreover, patients with additional tumours or venous invasion show elevated PAK4 expression (p < 0.001, Fig. 3D,F). This result indicates a significantly pos- itive correlation between PAK4 expression and ACC ma- lignancy. The association between PAK4 expression and clinical-pathological characteristics in patients with ACC is presented in Table 1. The total number of patients was 79; However, some information regarding pathologic T stage, pathologic N stage, clinical M stage, pathologic stage and primary therapy outcome was missing for certain patients.

Correlation between PAK4 Expression and ACC Diagnosis and Prognosis

Receiver operating characteristic (ROC) analysis was conducted to evaluate the ability of PAK4 to distinguish between ACC and normal adrenal tissue. The area un- der the curve (AUC) for PAK4 was 0.821 (Fig. 4A). The AUCs for 1-, 5- and 10-year overall survival (OS) were 0.902, 0.747 and 0.676, respectively (Fig. 4B). Patients were stratified into low-expression and high-expression groups based on PAK4 expression levels. Compared with the low-expression group, patients in the high-expression

group exhibited significantly shorter OS, disease-specific survival and progression-free interval (p < 0.01, Fig. 4C- E). By integrating the TNM stage and PAK4 expression lev- els, a nomogram model was constructed to predict the 2-, 3- and 5-year survival in ACC (Fig. 4F), with a calibra- tion plot confirming its accuracy (Fig. 4G). Survival prob- ability was significantly correlated with PAK4 expression, indicating that PAK4 may serve as a potential diagnostic and prognostic marker for ACC. In addition, a Gene Ex- pression database of Normal and Tumor tissues 2 (GENT2) database-based meta-analysis of the impact of PAK4 on OS of patients with ACC showed most datasets with a hazard ratio of >1, highlighting the prognostic value of PAK4 for ACC outcomes (Fig. 4H).

Identification of Genes Corelated with PAK4 in ACC

To identify key cancer-related protein interactions, we used the STRING database to construct a PAK4-related PPI network, identifying 10 highly correlated interacting genes (Fig. 5A). Further analysis via the GeneMANIA database revealed interactions between PAK4 and 20 can- didate target genes (Fig. 5B). KEGG enrichment analy- sis indicated that PAK4 expression is associated with var-

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Fig. 3. Association between PAK4 expression and clinicopathological parameters in ACC. The association between PAK4 expression and pathologic T stage (A), pathologic N stage (B), clinical M stage (C), tumour status (D), pathologic stage (E) and Weiss-Venous invasion (F). (*p < 0.05, ** p < 0.01, and *** p < 0.001). ACC, adrenocortical carcinoma.

A

B

C

**


*

6

6

6

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4

5

5

Log2 (TPM+1)

5

A

4

4

3

3

3

T

T1&T2

T3&T4

NO

NI

MO

MI

Pathologic T stage

Pathologic N stage

Clinical M stage

D

E

F



MẶC VỊ SE

6

6

6

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4

5

Log2 (TPM+1)

4

5

4

4

4

3

3

3

T

Tumor free

With tumor

Stage I&Stage II

Stage III&Stage IV

Absent

Present

Tumor status

Pathologic stage

Weiss-Venous invasion

Fig. 4. Correlation between PAK4 expression and ACC diagnosis and prognosis. (A) Diagnostic ROC curve of PAK4. (B) Time- dependent ROC curve of PAK4. (C-E) Survival curves of ACC patients with high and low PAK4 levels for OS, DSS and PFI. (F) Nomogram for predicting the 2-, 3- and 5-year survival of patients with ACC. (G) Calibration curves of the 2-, 3- and 5-year survival of patients with ACC. (H) Meta-survival analysis of PAK4 based on the GENT2 database. ACC, adrenocortical carcinoma; ROC, receiver operating characteristic; OS, overall survival; DSS, disease-specific survival; PFI, progression-free interval.

A

B

C

D

E

1.0

1.0

1.0

PAK4

1.0

PAK4

1.0

PAK4

Low

Low

0.8

0.8

High

High

Low

High

Sensitivity (TPR)

Sensitivity (TPR)

Survival probability

0.8

Survival probability

0.8

Survival probability

0.8

0.6

0.6

0.6

0.4

0.4

0.6

0.6

0.2

2

PAK4

0.2

PAK4

1-year (AUC -0.902)

Overall Survival HR = 3.34 (1.48

Disease

Specific

Survival

0.4

AUC: 0.821

Progress HR = 3.63

Free Interval

0.4

7.54)

0.4

HR - 3.47 (1.47-

8.15)

(1.84 - 7.14)

0.0

CI: 0.747-0.896

5-year (AUC-0.747)

0.0

10-year (AUC - 0.676)

= 0.004

P=0.004

< 0.001

0.0

0.2

0.4

0.6

0.8

1.0

0.0

0.2

0,4

0.6

0.8

1.0

0

50

100

150

0

50

100

150

100

1-Specificity (FPR)

1-Specificity (FPR)

Time (months)

Time (months)

0

50

150

Time (months)

F

G

H

Points

20

40

60

80

100

TJ&T4

1.0

Pathologic T stage

T1ST2

Observed fraction survival probability

Study

TE seTE

Hazard Ratio

HR

95%-CI

Weight (fixed)

Weight (random)

Pathologic N stage

NI

0.8

NO

Clinical M stage

M1

GSE10927-GPL570(215326_at)

4.53 3.0749

92.60

GSE33371-GPL570(215326_at)

4.46 3.0928

[0.22;

38371.17]

2.8%

2.8%

MO

.8

GSE33371-GPL570(33814_at)

1.71 1.4897

86.24

[0.20; 37013.02]

2.8%

2.8%

PAK4

High

LOW

GSE10927-GPL570(33814_at)

GSE33371-GPL570(203154_s_at)

1.57 1.4740

5.52

[0.30; 102.28)

12.1%

12.1%

4.81

[0.27;

86.44]

12.4%

12.4%

Total Points

0.4

1.20 0.8858

3.31

[0.58;

18.80]

34.2%

34.2%

40

80

120

180

GSE10927-GPL570(203154_s_at)

1.15 0.8675

3.15

[0.57;

17.23]

35.7%

35.7%

Linear Predictor

1.5

-0.5

0.5

1.5

25

0.2

2-year Survival Probability

2-year

Fixed effect model

4.36 [1.58;

12.05]

100.0%

-

0.9

100.0%

0.8

0.7

0.6 0.5 0.4 0.3

3-year 5-year

Random effects model

O

Heterogeneity: /2 = 0%, +2 = 0, p = 0.82

4.36 [1.58;

12.05]

-

3-year Survival Probability

0.0

Ideal line

0.9

0.7 0.6 0.5 0.4 0.3 02

0.0

0.2

0.4

0.6

0.8

1.0

0.001

0.1 1 10

1000

5-year Survival Probability

Nomogram predicted survival probability

0.8

0.7 0.6 0.5 0.4 0.3 0.2 0.1

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Fig. 5. Analysis of pathways and underlying mechanisms. (A) PAK4-interaction proteins in ACC from the STRING database. (B) The gene-gene network of PAK4 performed by the GeneMANIA database. (C,D) KEGG and GSEA results. (E) Enrichment analysis results of PAK4 across various biological processes and metabolic pathways. (F) Correlation of PAK4 mRNA expression with 14 malignant features of tumours.

26

A

B

D

RAC3

LARK1

MMPZ

8

RAF1

FGF1

-

RAC2

INKA1

INKA1

ARHGEE

3

INKA2

-20

22

Category

PAK4.

-

ARHGEFG

PAKA

BSH

8

CDC42

UMK1

-2.3

-

LIMK1

CHOU

LIMK2

9

2.1

NES

C

E

Pathway

-log10(pvalue)

NEB

Level 3 of KEGG functional Category

Level 2 of KEOG funcional Category

Level 1 of KEGG functional Canegory

R604110

2.13

Cell cycle

8004114

Oocyle meiosis

Cell growth and death

2004115

1.46

1.41

p53 signaling pathway

4004210

-1.68

8004810

1.67

=1.33

Regulation of actin cytoskeleton

Cell motility

Cellular Processes

4004510

-1.34

Focal adhesion

Celular community - eukaryotes

8004144

1.47

4004142

endocytosis

Lysosome

Transport and catabolism

0004340

2

1.73

6504020

Hedgehog signaling pathway

Calcium signaling pathway

8004630

-1.32

0004070

5.09

-1.85

JAK-STAT signaling pathway

Signal transduction

6004518

1,62

Phosphaliddingsitel signaling system

Environmental Information Processing

643

8504060

Cell adhesion molecules

-2.62

Neuroactive ligand-receptor interaction

Signaling molecules and interaction

8004080

1.32

-1.28

ther Types Of O-dlycan Biosynthesis

2:00

1.61

Base excision repair

4.01

DNA replication

Homologous recombination

Replication and repair

leomyan Kanamydin And Granicin Biosynthesis

NO03430

1.60

Mismatch repair

Genetic Information Processing

ko03420

212

Nucleoside excision repair

NO03040

Spiccosome

Transcription

2003010

2.18

Ribosome

Translation

4005200

1.32 216

-1.28

Pathways in cancer

Cancer: overview

3005217

1.62

0505221 8005218

Basal cell carcinoma

1.83

1.50

-1.49

Acute myeloid leukemia

6005215

-147

Melanoma

Cancer: specific types

-1.47

8005416

Prostate cancer

44

Viral myocarditis

Cardiovascular diusados

8004950

1.58

Maturity onset diabetes of the young

6:15

Type 1 diabetes mellitus proglas rejection

Endocrine and metabolic disease

Human Diseases

NES

-

-2.34

Asthma

10-

Autoimmune thyroid diusare

Immune disease

4005332

8.85

Graft-versus-host disease

8005340

5.05

2.00

=1.96

Bacterial invasion of epithelial cells

Infectious disease: bacterial

2009140

9.95

2

Leishmaniasis

Infectious disease: parasitic

-log 10(p.adjust)

4000340

177

Histidine metabolism

4000360

137

Phenylalanine metabolism

Amino acid metabolism

6000350

8000620

2.87

+1.76

Tyrosine metabolism

0000010

Amino sugar and nucleotide sugar metabolism

Glycolysis / Gluconeogenesis

8000040

Pentose and glucuronate interconversions

Carbohydrate metabolism

8500500

281

.

Starch and sucrose metabolism

-166

Nitrogen metabolism

Energy metabolism

1.72

Glycan biosynthesis and metabolism

4000100

43

2.08

Steroid biosynthese

216

-1.50

Metabolism

8000691

=1.54

Linoleic acid metabolism

Lipid metabolism

8000140

1,60

-1.48

1.58

pallone biosynthesis

Folate biosynthesis

-1.06

Porphyrin and chlorophyll metabolism

Retinol metabolism

Metabolism of cofactors and vitamins

000830

4.31

-19

4000900

0000982

Terpenoid backbone biosynthesis

Metabolism of terpenolds and polyketides

2.14

Drug metabolism = cytochrome P450

8000983

371

Drug metabolism - other enzymes

0000980

Xenoblatics biodegradation and metabolism

5.74

2.05

1004950

Metabolism of minobiotics by cytochrome P450

Aldosterone-regulated sodium reabsorption

8004612

8.62

2.24

Antigen processing and presentation

Excretory system

0

-1.78

B cell receptor signaling partey

8004810

6.21

3.61

Complement and coagulation cascades

Grill par sensing panway

1.99

-1.47

8004840

80

+2.4

FG gamma R-mediated phagocytosis

Hemalopontic call lineage

Organismal Systems

4004672

-2.18

Intestinal immune network for ig& production

Immune system

4004670

3.18

Leukocyte transaendothelial migration

4004621

NOD-like receptor signaling pathway

0004650

AD04622

80

2.24

-1.44

Natural killer cell mediated cytotoxicity

8004660

RIG-I-like receptor signaling pathway

637

2.12

T cell receptor signaling pathway

8004620

-

-2.08

Toll-like receptor signaling pathway

RD04721

4.35

Synaptic vesicle cycle

Nervous system

0.0 25 50 7.5100

2-1 6 1 2

OSE143383

GSE 19775

GSE90713-

TCGA_ACC

F

Angiogenesis

Apoptosis

Cell Cycle

Differentiation

DNA damage

DNA repair

EMT

4

2

Oncogenic combined z-scores (zscore)

0

-2

-4

R =- 0.082, p = 0.48

R =- 0.25, p = 0.028

R=0.36, p = 0.0012

R =- 0.3, p = 0.0067

R=0.3, p = 0.0075

R = 0.42, p = 0.00012

R =- 0.085, p = 0.45

Hypoxia

Inflammation

Invasion

Metastasis

Proliferation

Quiescence

Stemness

4

2

0

-2

-4

R =- 0.1, p=0.38

R =- 0.41, p =0.00015

R=0.0019, p=0.99

R =- 0.25, p = 0.027

R=0.01, p=0.93

R =- 0.39, p = 0.00033

R =- 0.1, p=0.36

-2

0

2

-2

0

2

-2

0

2

-2

0

2

-2

0

2

-2

0

2

-2

0

2

PAK4 (zscore)

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Fig. 6. Enrichment plots from GSEA. (A-F) GSEA results showing differential enrichment of genes in KEGG with high PAK4 ex- pression. (G-L) GSEA results showing differential enrichment of genes in GO with high PAK4 expression.

A

[KEGG] DNA Replication

B

[KEGG] Hedgehog Signaling Pathway

C

[KEGG] P53 Signaling Pathway

NES = 2.584

NES =2.349

NES = 1.955

0.6

P.adj < 0.001

P.adj < 0.001

0.4

P.adj = 0.002

Enrichment Score

FDR < 0.001

Enrichment Score

0.4

FDR < 0.001

Enrichment Score

FDR = 0.001

0.3

0.4

0.2

0.2

0.2

0.1

0.0

0.0

0.0

-0.1

Ranked list metric

6

Ranked list metric

6

Ranked list metric

6

3

3

3

0

0

0

-3

-3

-3

-6

-6

-6

0

10000

20000

30000

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10000

20000

30000

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10000

20000

30000

Rank in Ordered Dataset

Rank in Ordered Dataset

Rank in Ordered Dataset

D

[KEGG] Wnt Signaling Pathway

E

[KEGG] Tgf Beta Signaling Pathway

1

[KEGG] Cell Cycle

0.4

0.3

NES = 1.631

P.adj = 0.004

NES = 1.708

FDR = 0.002

P.adj = 0.004

NES = 2.602

P.adj < 0.001

Enrichment Score

FDR = 0.003

Enrichment Score

FDR < 0.001

0.2

Enrichment Score

0.3

0.4

0.1

0.2

0.0

0.2

0.1

-0.1

0.0

0.0

Ranked list metric

6

Ranked list metric

6

Ranked list metric

6

3

3

3

0

0

0

-3

C

-3

-6

-6

-6

0

10000

20000

30000

0

10000

20000

30000

0

10000

20000

30000

Rank in Ordered Dataset

Rank in Ordered Dataset

Rank in Ordered Dataset

[GO:BP] Attachment of Spindle Microtubules

[GO:BP] Mitotic Cell Cycle Checkpoint Signaling

IGO:BP] DNA Replication Initiation

G

To Kinctochore

1.6

NES =2.822

NES =2.780

NES - 2.829

P.adj < 0.001

P.adj < 0.001

P.udj < 0.001

FOR < 0.001

0.6

FDR < 0.001

Enrichment Score

0.6

FDR < 0.001

Enrichment Score

Enrichment Score

0.4

0.4

0.4

0.2

0.2

0.2

0.0

0.0

0.0

Ranked list metric

6

Ranked list metric

6

Ranked list metric

6

3

3

3

0

0

0

-3

-3

-3

-6

-6

-6

0

10000

20000

30000

0

10000

20000

30000

0

10000

20000

30000

Rank in Ordered Dataset

Rank in Ordered Dataset

Rank in Ordered Datasel

[GO:BP| Recombinational Repair

K

[GO:MF] DNA Helicase Activity

[GO:BP] Regulation of Chromosome Segregation

NES =2.713

0.6

NES =2.440

L

P.udj < 0.001

Padj < 0.001

0.6

NES =2.885

P.adj < 0.001

Enrichment Score

FDR < 0.001

FOR < 0.001

FDR < 0.001

0.4

Enrichment Score

0.4

Enrichment Score

0.4

0.2

0.2

0.2

0.0

0.0

0.0

Ranked list metric

6

Ranked list metric

6

Ranked list metric

6

3

3

0

0

0

-3

-3

-3

-6

-6

-6

0

10000

20000

30000

0

10000

20000

30000

0

10000

20000

30000

Rank in Ordered Dataset

Rank in Ordered Dataset

Rank in Ordered Datasel

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Fig. 7. Correlation of PAK4 expression with immune infiltration in ACC. (A) Relationship between PAK4 expression and immune cell infiltration status. (B) Expression of PAK4 in 24 types of immune cells (ns, not significant (p ≥ 0.05), *p < 0.05, ** p <0.01, and *** p < 0.001). ACC, adrenocortical carcinoma.

A

PAK4

Th2 cells

R = 0.427 ***

Tgd

R = 0.055”15

Eosinophils

R =- 0.10718

·

0.8

·

TReg

R =- 0.12618

aDC

R =- 0.197115

Enrichment of B cells

Enrichment of Cytotoxic cells

0.7

Enrichment of Mast cells

0.6

0,3

Tem

R = - 0.2018

0.6

0.5

NK cells

R = - 0.293 **

T helper cells

R = - 0.321”

P value

0.2

0.5

Tem

R = - 0.341

0.6

·

88

0.4

pDC

R = - 0.350 **

0.4

0.3

iDC

R = - 0.411

0.1

-0.526

0.3

Spearman

man

R - - 0.627

CD8 T cells

-@0.502

R = - 0.425

0.2

·

P @ 0.001

<0.001

0.2

P = 0.001

DC

R = - 0.441

3

4

5

6

5

6

4

5

6

Thl cells

R = - 0.446”

|Cor|

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The

expression of PAK4 Log2 (TPM+1)

Th17 cells

R = - 0.448

NK CD56dim cells

0.2

0.8

0.7

Enrichment of NK CD56bright cells

0.7

R = - 0.452

Neutrophils

0.4

..

R = - 0.463 ***

0.6

Enrichment of Macrophages

Enrichment of Neutrophils

Mast cells

R = - 0.502

0.6

0.7

Macrophages

R = - 0.515

0.6

B cells

R = - 0.526 ***

0.5

TFH

R =- 0.526” **

0.6

T cells

R = - 0.538

.

0.4

0.5

NK CD56bright cells

0.5

rman

Spearma

Cytotoxic cells

R = - 0.595

R = - 0.627

0.3

= - 0.595

%

P= 0.001

P

<0.001

0.4

B & 0.001

-0.50

-0.25

0.00

0.25

3

4

5

6

3

4

5

6

3

4

5

6

Correlation

The expression of PAK4 LOS2 (TPM+1)

The expression of PAK4 LOS2 (TPM+1)

The expression of PAK4 LOS2 (TPM+1)

Enrichment of NK CD56dim cells

0.5

0.60

0.6

0.6

0.55

.

Enrichment of T cells

0.4

Enrichment of TFH

Enrichment of The cells

Enrichment of Th17 cells

0.55

0.50

P

0.4

0.4

0.50

0.3

.

0.45

0.45

0.2

0,2

0.2

R =- 0.452

0.538

0.40

R = - 0.526

P< 0.001

0.40

0.1

P2 0.001

R = 0.427

0.001

.

P < 0.001

20.001

3

5

6

3

4

5

6

3

4

5

6

3

4

3

S

3

4

$

6

B

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

The expression of PAK4 Log2 (TPM+1)

**

1.0

Enrichment score


0.8

*


**

**

PAK4

0.6


Low

High

0.4

O

0.2

aDC

B cells

CD8 T cells

Cytotoxic cells

Eosinophils

iDC

Macrophages

Mast cells

Neutrophils

NK CD56bright cells

NK CD56dim cells

NK cells

PDC

T cells

T helper cells

Tcm

Tem

TFH

Tgd

Th1 cells

Th17 cells

Th2 cells

DC

TReg

ious functions, particularly the cell cycle, DNA replication and steroid biosynthesis (Fig. 5C). Fig. 5D shows poten- tial PAK4-related pathways from GSEA analysis. Fig. 5E presents integrated analysis results from multiple databases, highlighting strong correlations with oxidative phosphory- lation, myc target V1 and G2m checkpoint. Finally, analy- sis of the correlation between PAK4 expression and 14 tu- mor signature functional states showed that DNA repair has the most significant positive correlation, while inflamma- tion has the most significant negative correlation (p < 0.01, Fig. 5F).

Gene Sets Enriched in the PAK4 Expression Phenotype

GSEA identified pathway alterations between the high and low-PAK4-expression groups. As illustrated in Fig. 6, with regard to KEGG pathways, the cell cycle, DNA repli- cation, Hedgehog signalling pathway, p53 signalling path- way and transforming growth factor-beta (TGF-3) sig- nalling pathway are significantly upregulated in the high-

PAK4-expression group (p < 0.01). Meanwhile, with re- gard to GO terms, the regulation of chromosome segre- gation, the attachment of spindle microtubules to kineto- chore, mitotic cell cycle checkpoint signalling, DNA repli- cation initiation, recombinational repair and DNA helicase activity are all significantly upregulated in this group (p < 0.001).

Correlation between PAK4 Expression and ACC Immune Infiltration

In this study, the correlation of PAK4 expression levels with the infiltration of 24 immune cell types was analysed. PAK4 expression positively correlated with T helper cell type 2 (Th2) cells and negatively correlated with cytotoxic, natural killer (NK) and T cells (p < 0.01, Fig. 7A). Fur- ther research showed significant PAK4 expression differ- ences amongst various immune cells, particularly B cells, cytotoxic cells and macrophages (p < 0.05, Fig. 7B). Our findings also indicated that PAK4 is related to immune stim- ulators such as inducible T-cell costimulator (ICOS), po-

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Fig. 8. Correlation of PAK4 expression with immunomodulators in ACC. (A) Correlation between the expression of PAK4 and immune stimulators through the TISIDB database. (B) Correlation of PAK4 expression with immune inhibitors in ACC available at the TISIDB database. ACC, adrenocortical carcinoma.

A Immunostimulator ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

8

:

5.0

2.5

0.0

2.5

C10orf54_exp

6

CD27_exp

0.0

ICOS_exp

IL2RA_exp

-2.5

0.0

4

-2.5

-2.5

-5.0

-5.0

-5.0

2

5

PAK4_exp

6

7

5

Spearman Correlation Test: rho = - 0.451, p = 3.72e-05 ACC (79 samples)

PAK4_exp

6

7

5

6

7

5

6

7

Spearman Correlation Test: rho = - 0.495, p = 4.72e-06 ACC (79 samples)

PAK4_exp

Spearman Correlation Test: rho = - 0.4, p = 0.000287 ACC (79 samples)

PAK4_exp Spearman Correlation Test: rho = - 0.597, p = 1.23e-08 ACC (79 samples)

8

2.5

6

5.0

PVR_exp

7

TMEM173_exp

TNFRSF18_exp

0.0

TNFSF13_exp

4

2.5

-2.5

6

2

0.0

-5.0

5

5

6

PAK4_exp

7

5

PAK4_exp

6

7

5

6

7

5

6

7

Spearman Correlation Test: rho = 0.419, p = 0.000139

Spearman Correlation Test: rho = - 0.426, p = 0.000104

PAK4_exp

Spearman Correlation Test: rho = - 0.417, p = 0.00015

PAK4_exp

Spearman Correlation Test: rho = - 0.461, p = 2.33e-05

B Immunoinhibitor

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

5.0

2

2.5

2.5

4

CD96_exp

CD160_exp

0

CD244_exp

CD274_exp

0.0

0.0

0

-2.5

-2.5

-2

-4

-5.0

-5.0

5

6

7

-4

PAK4_exp

5

PAK4_exp

6

7

5

PAK4_exp

6

7

5

6

7

Spearman Correlation Test: rho = - 0.436, p = 7.1e-05 ACC (79 samples)

Spearman Correlation Test: rho = - 0.287, p = 0.0105 ACC (79 samples)

Spearman Correlation Test: rho = - 0.466, p = 1.86e-05 ACC (79 samples)

PAK4_exp Spearman Correlation Test: rho = - 0.465, p = 1.97e-05 ACC (79 samples)

8

9

2.5

2

KDR_exp

PDCD1LG2_exp

0

.8

0.0

6

PVRL2_exp

TIGIT_exp

-2

7

-2.5

4

-4

-5.0

-6

6

5

6

PAK4_exp

7

5

6

6

6

Spearman Correlation Test: rho = - 0.392, p = 0.000395

PAK4_exp

7

5

7

5

7

Spearman Correlation Test: rho = - 0.492, p = 5.58e-06

PAK4_exp

Spearman Correlation Test: rho = 0.584, p = 3.16e-08

PAK4_exp Spearman Correlation Test: rho = - 0.502, p = 3.38e-06

liovirus receptor (PVR) and TNFRSF18 (Fig. 8A), as well as to immune inhibitors, including cluster of differentiation 160 (CD160), T-cell immunoreceptor with Ig and ITIM do- mains (TIGIT) and poliovirus receptor-related 2 (PVRL2) (p < 0.05, Fig. 8B). Thus, PAK4 is closely related to tumour immunity, and it may promote immune surveillance escape in tumours.

Correlation between PAK4 Expression and Chemokines in ACC

Chemokines and their receptors are important regula- tory molecules in the immune system, playing crucial roles in immune system modulation. PAK4 is significantly asso- ciated with several chemokines and their receptors in ACC. For example, the expression level of PAK4 is significantly

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Fig. 9. Correlation of PAK4 expression with immunoregulatory factors in ACC. (A) Correlation between the expression of PAK4 and chemokine through the TISIDB database. (B) Correlation of PAK4 expression with receptor in ACC available at the TISIDB database. ACC, adrenocortical carcinoma.

A Chemokine

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

7.5

7.5

5.0

2.5

5.0

5.0

2.5

CCL2_exp

CCL5_exp

CCL8_exp

0.0

CCL13_exp

2.5

0.0

2.5

-2.5

-2.5

0.0

0.0

-5.0

-5.0

-2.5

-2.5

5

6

7

PAK4_exp Spearman Correlation Test: rho = - 0.433, p = 7.84e-05 ACC (79 samples)

5

7

5

6

7

PAK4_exp

5

6

7

PAK4_exp

6

Spearman Correlation Test: rho = - 0.397, p = 0.000324 ACC (79 samples)

Spearman Correlation Test: rho = - 0.457, p = 2.79e-05 ACC (79 samples)

PAK4_exp

Spearman Correlation Test: rho = - 0.417, p = 0.000149 ACC (79 samples)

2.5

0.0

7.5

0.0

0.0

CCL23_exp

CCL25_exp

CXCL12_exp

5.0

XCL1_exp

-2.5

-2.5

-2.5

2.5

-5.0

-5.0

-5.0

0.0-

5

PAK4_exp

6

7

5

7

7

PAK4_exp

6

5

PAK4_exp

6

5

Spearman Correlation Test: rho = - 0.437, p = 6.76e-05

Spearman Correlation Test: rho = 0.385, p = 0.00051

Spearman Correlation Test: rho = - 0.531, p = 7.52e-07

PAK4_exp

6

7

Spearman Correlation Test: rho = - 0.506, p = 2.82e-06

B Receptor

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

ACC (79 samples)

2.5

1

4

2.5

0.0

0

CCR1_exp

CCR2_exp

CCR5_exp

0.0

CCR6_exp

2

-1

2.5

-2.5

-2

0

-3.

-5.0

-5.0

-2

-4

5

PAK4_exp

6

7

5

7

7

PAK4_exp

6

5

PAK4_exp

6

5

6

7

Spearman Correlation Test: rho = - 0.436, p = 6.97e-05

Spearman Correlation Test: rho = - 0.496, p = 4.65e-06 ACC (79 samples)

Spearman Correlation Test: rho = - 0.379, p = 0.000633 ACC (79 samples)

PAK4_exp Spearman Correlation Test: rho = - 0.321, p = 0.0041 ACC (79 samples)

ACC (79 samples)

2.5

2.5

2.5

4

0.0

CCR7_exp

CX3CR1_exp

CXCR3_exp

0.0

CXCR6_exp

0.0

-2.5

0

-2.5

-2.5

-5.0

-4-

-5.0

-5.0

5

6

7

5

6

7

5

6

7

5

6

7

PAK4_exp

Spearman Correlation Test:

PAK4_exp

PAK4_exp

PAK4_exp

rho = - 0.476, p = 1.18e-05

Spearman Correlation Test: rho = - 0.243, p = 0.0312

Spearman Correlation Test: rho = - 0.403, p = 0.000257

Spearman Correlation Test: rho = - 0.544, p = 3.47e-07

correlated with chemokines such as C-C motif chemokine ligand 2 (CCL2), CCL25 and X-C motif chemokine lig- and 1 (XCL1) (Fig. 9A), as well as chemokine receptors such as C-C chemokine receptor type 1 (CCR1), CX3CR1 and C-X-C chemokine receptor type 6 (CXCR6) (p < 0.05, Fig. 9B). These results further indicate that PAK 4 may serve as an immunomodulatory factor in ACC.

IHC Validation of PAK4 Expression in ACC Tissues

In verifying the expression of PAK4 at the protein level, IHC staining was performed on normal adrenal tis- sues and ACC tissues. The staining, mainly in the cyto- plasm, revealed higher PAK4 expression in ACC tissues than in normal adrenal tissues (p < 0.001, Fig. 10).

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Fig. 10. Immunohistochemical staining of PAK4 expression in normal adrenal tissues and ACC tissues. (A) Normal adrenal tissue at a 20x zoom level. The arrow is intended to indicate that PAK4 expression is relatively low in normal adrenal tissue, with correspondingly lighter IHC staining. (B) ACC tissues at a 20x zoom level. The arrows indicate that PAK4 expression is relatively high in ACC tissue, with correspondingly darker IHC staining. (C) Quantification of PAK4 expression in ACC and adrenal tissues ( *** p < 0.001). ACC, adrenocortical carcinoma.

A

B

C

6


The IHC score of PAK4

4

2

P

0

T

adrenal tissues

ACC tissues

Table 1. Association between PAK4 protein level and clinicopathological features of patients with ACC.
CharacteristicsLow expression of PAK4High expression of PAK4p value
n3940
Gender, n (%)0.030
Female19 (48.7%)29 (72.5%)
Male20 (51.3%)11 (27.5%)
Age, n (%)0.576
≤5019 (48.7%)22 (55.0%)
>5020 (51.3%)18 (45.0%)
Pathologic T stage, n (%)(n =38)(n = 39)0.011
T18 (21.1%)1 (2.6%)
T222 (57.9%)20 (51.3%)
T34 (10.5%)4 (10.2%)
T44 (10.5%)14 (35.9%)
Pathologic N stage, n (%)(n =38)(n = 39)0.037
N037 (97.4%)31 (79.5%)
N11 (2.6%)8 (20.5%)
Clinical M stage, n (%)(n=38)(n = 39)0.002
M036 (94.7%)26 (66.7%)
M12 (5.3%)13 (33.3%)
Pathologic stage, n (%)(n = 38)(n = 39)0.002
Stage I8 (21.1%)1 (2.6%)
Stage II21 (55.2%)16 (41.0%)
Stage III7 (18.4%)9 (23.1%)
Stage IV2 (5.3%)13 (33.3%)
Primary therapy outcome, n (%)(n = 36)(n =31)0.003
PD3 (8.3%)15 (48.4%)
SD1 (2.8%)1 (3.2%)
PR1 (2.8%)0 (0.0%)
CR31 (86.1%)15 (48.4%)
OS event, n (%)0.023
Alive30 (76.9%)21 (52.5%)
Dead9 (23.1%)19 (47.5%)

2

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Discussion

PAK4, the predominantly overexpressed PAK fam- ily member in ACC, is also elevated in multiple malig- nancies probably because of the amplification of its ge- nomic locus (19q13.2), which is commonly observed in cancers such as hepatocellular carcinoma, breast cancer, pancreatic cancer and gastric cancer [15-17]. Its over- expression drives tumour progression by inhibiting anti- tumour immune responses, promoting cell survival, regu- lating adhesion, inducing cytoskeletal remodelling and fa- cilitating oncogenic transformation [6]. PAK4 also con- tributes to tumour invasion and drug resistance [9,18,19]. The oncogenic effects of PAK4 are mediated through multi- ple signalling pathways, including Wnt/3-catenin, extracel- lular signal-regulated kinase (ERK), phosphatidylinositol- 3-kinase (PI3K)/AKT and programmed cell death pro- tein 1 (PD-1)/programmed death-ligand 1 (PD-L1). PAK4 activates Wnt/3-catenin signalling by phosphorylating ß- catenin at Ser675 and enhances PI3K/AKT activity by bind- ing PI3K and promoting AKT phosphorylation [20,21]. In addition, PAK4 modulates the PD-1/PD-L1 axis, thereby in- creasing resistance to PD-1 blockade and positioning it as a potential immunotherapy target [22,23]. Despite these in- sights, the specific role and mechanisms of PAK4 in ACC pathogenesis remain unknown.

Our enrichment analysis reveals that PAK4 is posi- tively correlated with several key signalling pathways, in- cluding Hedgehog, p53 and TGF-3. The Hedgehog path- way, which is typically inactive in adult organisms, plays a crucial role in embryonic development and tissue forma- tion. Aberrant activation of this pathway can promote tu- mour growth [24]. The p53 gene, which is a well-known tu- mour suppressor, monitors cellular DNA damage and other stress signals, thereby regulating cell cycle and DNA repair [25]. Mutations in the p53 gene can lead to tumorigene- sis. TGF-3, a pleiotropic secreted cytokine, may induce cancer when highly expressed [26]. A strong association was also found between PAK4 and two critical physiologi- cal processes related to tumour progression, namely oxida- tive phosphorylation and cell cycle. Oxidative phospho- rylation, a central pathway in cellular energy metabolism, efficiently generates adenosine triphosphate (ATP) through the mitochondrial electron transport chain, providing the energy necessary for the rapid proliferation of tumour cells. Dysregulation of the cell cycle, which is a hallmark of can- cer, allows cells to bypass growth restrictions, divide con- tinuously and evade DNA repair or apoptosis [27]. Given these findings, PAK4 is implicated in the proliferation and growth of tumour cells and is considered as an important factor in the progression of ACC. There is growing recogni- tion of the crucial role of immune cell infiltration in tumour development [28-30]. In this study, PAK4 is associated with diverse immune cells, and it may promote ACC devel- opment through immune modulation. PAK4 shows a nega-

tive correlation with tumour-suppressing immune cells such as cytotoxic cells, NK CD56bright cells and T cells, which combat cancer via perforins, apoptosis induction and cy- tokines/chemokines such as interferon-gamma (IFN-y) and TNF-a, whilst activating other immune cells [31-33]. The multifaceted influence of PAK4 on immune cell infiltration can be attributed to several mechanisms. PAK4 might hin- der immune cell entry into the tumour microenvironment or suppress infiltration by altering cytokine and chemokine secretion. Furthermore, PAK4 interacts with various sig- nalling pathways that significantly influence the immune microenvironment, thereby contributing to an immunosup- pressive setting [34]. Studies have identified PAK4 as a key target for tumour immune evasion by blocking cytotoxic T cell infiltration [35]. Recent research has already linked PAK4 to the treatment of cancers such as renal cell carci- noma and prostate cancer. Targeted PAK4 inhibitors have been shown to simultaneously suppress cancer cell prolifer- ation and enhance immune cell responses, thereby improv- ing immune infiltration [36,37]. This dual action indicates that targeting PAK4 could be a promising therapeutic di- rection for ACC. Given that PAK4 expression in ACC is inversely correlated with the infiltration of most immune cells, the development of novel drugs that inhibit PAK4 ac- tivity could enhance immune activation and achieve thera- peutic efficacy. Future research should further validate the translational value of these mechanisms in clinical settings and explore the potential synergies between PAK4-targeted therapies and other immunotherapeutic strategies.

Undoubtedly, this study is not without its limitations, which are primarily attributable to the rarity of ACC. Ex- isting databases have limited cases compared to more com- mon cancers, increasing research uncertainty and data het- erogeneity. This challenges data analysis and result inter- pretation. Additionally, long-term follow-up of ACC pa- tients for survival data is difficult. To address these issues, multi-country medical centers and research institutions can collaborate to collect and share clinical data and biospeci- mens of ACC patients. Standardizing data-collection pro- tocols ensures consistent data quality. Establishing a dedi- cated ACC data-sharing platform would also promote data circulation. It is hoped that more standardised and effective ACC case data can be made available in the future, thereby yielding research findings that are more authentic and cred- ible.

Conclusions

Our findings indicate that PAK4 is overexpressed in ACC, which is associated with higher malignancy, cancer promotion and immune cell infiltration. PAK4 shows great application potential as a therapeutic target and prognos- tic biomarker for ACC. Future research should use updated bio-genomic databases and conduct more experiments for validation.

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Availability of Data and Materials

The datasets used and/or analysed during the current study were available from the corresponding author on rea- sonable request.

Author Contributions

YC and JW-designed the study; XW, SL, GD and HL-collected and analyzed the data; QM, ML and WC- participated in drafting the manuscript. All authors con- ducted the study and contributed to critical revision of the manuscript for important intellectual content. All authors gave final approval of the version to be published. All au- thors participated fully in the work, took public responsibil- ity for appropriate portions of the content, and agreed to be accountable for all aspects of the work in ensuring that ques- tions related to the accuracy or completeness of any part of the work were appropriately investigated and resolved.

This study was approved by the Ethics Committee of Yuhuangding Hospital (institution review board number: 2024-384) and was performed in accordance with the prin- ciples of the Declaration of Helsinki. All eligible partici- pants signed an informed consent form.

Acknowledgment

Not applicable.

Funding

This work was supported by the National Natural Science Foundation of China (Nos. 82370690, 82303813), Natural Science Foundation of Shandong Province (Nos. ZR2023MH241, ZR2023QH271, ZR2021MH402, ZR2021MH185), Taishan Scholars Program of Shandong Province (Nos. tsqn201909199, tsqn202306403), and Shandong Health Science Innovation Team Building Project.

Conflict of Interest

Given his role as Editorial Board member, Yuanshan Cui had no involvement in the peer-review of this article and has no access to information regarding its peer-review.

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