1.Dilemmas and challenges in the clinical diagnosis of Wilson disease
Journal of Clinical Hepatology 2026;42(3):509-514
Wilson disease (WD) is characterized by marked heterogeneity in clinical phenotype, and it often overlaps with liver diseases (such as cholestatic liver diseases and active hepatitis) and neuropsychiatric diseases, which may easily lead to misdiagnosis or missed diagnosis. This article focuses on the confusing scenarios in clinical practice, reviews the pathophysiological basis of ATPase copper transporting beta (ATP7B) gene dysfunction, and systematically elaborates on the key interpretation points and limitations of ceruloplasmin, total serum copper/non-ceruloplasmin-bound copper, 24-hour urinary copper excretion, D-penicillamine challenge test, hepatic copper quantification, and histopathological assessment across different clinical scenarios. This article also summarizes the potential application of emerging dynamic copper indicators, such as relative exchangeable copper, in diagnosis, family screening, and treatment monitoring. In addition, it discusses the role of ATP7B genetic testing in “gray-zone” cases, difficulties in interpreting variants of uncertain significance, and the features of mutation spectrum in Chinese population, as well as the potential decline in diagnostic performance of the Leipzig scoring system in the context of complex liver diseases. Overall, the diagnosis of WD should not rely on a single indicator, and it is recommended to adopt a multidimensional hierarchical decision-making pathway that integrates phenotype, biochemical tests, dynamic copper indices, tissue/genetic evidence, and scoring systems. Furthermore, key thresholds and workflows should be optimized using real-world data from China, so as to enhance the efficiency of early identification and familial management, thereby improving the long-term prognosis of patients.
2.Clinical features of muscle changes and related risk factors in patients with porto-sinusoidal vascular disorder
Ruijia LI ; Yuxiang GONG ; Yu ZHANG ; Shasha LI ; Yongfeng YANG
Journal of Clinical Hepatology 2026;42(3):639-646
ObjectiveTo investigate the prevalence of muscle changes (including sarcopenia and myosteatosis) and related influencing factors in patients with porto-sinusoidal vascular disorder (PSVD), and to provide a theoretical basis for the early identification, prevention, and intervention of muscle changes in PSVD patients. MethodsA total of 132 PSVD patients who were diagnosed in Nanjing Second Hospital from July 2017 to July 2024 were enrolled as case group, and the hospital staff who underwent physical examination in 2025 were enrolled as healthy control group. Propensity score matching was performed based on age and sex at a ratio of 1∶1. According to muscle status assessed by abdominal CT, the subjects were divided into non-muscle change group, mild muscle change group (myosteatosis alone), and severe muscle change group (sarcopenia alone or sarcopenia comorbid with myosteatosis), with the type and severity of muscle change as the exposure factors. General information, laboratory tests, L3-level CT images, and liver biopsy data were collected for the patients in the case group, and general information and CT images were collected for the individuals in the healthy control group. Sarcopenia was diagnosed by measuring skeletal muscle index at the L3 level (<44.77 cm2/m2 for men and <32.50 cm2/m2 for women), and myosteatosis was defined by mean muscle attenuation combined with BMI (BMI <24.9 kg/m2 with attenuation <41 HU or BMI ≥25 kg/m2 with attenuation <33 HU). Demographic, laboratory, and clinical parameters were compared between the case group and the healthy control group. The independent-samples t test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. The univariate and multivariate Logistic regression analyses were used to identify the factors associated with sarcopenia in PSVD. ResultsAmong the 132 patients with PSVD, there were 83 patients with portal hypertension (PH) and 49 patients without PH, and there were significant differences between these two groups in age, albumin, albumin/globulin ratio, leukocyte count, neutrophil count, red blood cell count, platelet count, direct bilirubin, indirect bilirubin, hemoglobin, blood calcium, cholinesterase, total bile acid, triglyceride, total cholesterol, prothrombin time, international normalized ratio, activated partial thromboplastin time, decompensation, gastroesophageal or ectopic varices, bleeding and ascites (all P<0.05). The analyses after matching showed that compared with the healthy control group, the case group had significantly higher prevalence rates of abnormal muscle structure (43.18% vs 18.94%, P<0.001), mild muscle changes (22.73% vs 7.58%, P<0.001), and severe muscle changes (20.45% vs 11.36%, P<0.001). Further comparison showed that there was no significant difference in the proportion of patients with muscle changes between the PSVD patients with PH and those without PH (42.17% vs 44.90%, P=0.760). The binary Logistic regression analysis with the presence or absence of muscle changes as the dependent variable showed that age (odds ratio [OR]=1.05, 95% confidence interval [CI]: 1.02 — 1.09, P<0.05), subcutaneous fat index (OR=1.03, 95%CI: 1.01 — 1.06, P<0.05), hemoglobin (OR=0.97, 95%CI: 0.95 — 0.99, P<0.05), and thrombin time (OR=1.26, 95%CI: 1.06 — 1.49, P<0.05) were independent influencing factors for muscle changes in PSVD patients. The multivariate ordinal Logistic regression analysis with the severity of muscle changes as the dependent variable showed that age (OR=1.04, 95%CI: 1.01 — 1.07, P<0.05) and thrombin time (OR=1.17, 95%CI: 1.01 — 1.36, P<0.05) were independent risk factors for the grading of muscle changes. ConclusionMuscle changes are common in PSVD patients, and these changes may be caused by PSVD itself rather than PH. Age, fat distribution, thrombin time, and hemoglobin are important influencing factors for muscle changes.
3.Value of C-reactive protein in predicting the progression of acute decompensation of cirrhosis to acute-on-chronic liver failure
Feng YANG ; Jun GUO ; Jiale SHEN ; Ruiqi LI ; Xixuan WANG ; Yongfeng YANG
Journal of Clinical Hepatology 2026;42(7):1623-1631
ObjectiveTo investigate the efficacy of C-reactive protein (CRP) in predicting the progression to acute-on-chronic liver failure (ACLF) within 90 days after disease onset in patients with acute decompensation (AD) of cirrhosis, and to provide a reference for the early identification of high-risk populations in clinical practice. MethodsA retrospective study was conducted among 906 patients with liver cirrhosis who were hospitalized due to AD in Nanjing Second Hospital from January 1, 2015 to October 31, 2024, and demographic features, AD type, and laboratory markers were collected on admission. The primary endpoint was progression to ACLF within 90 days after admission, and according to the presence or absence of ACLF, the patients were divided into non-ACLF group with 676 patients and ACLF group with 230 patients. The independent-samples t test was used for comparison of normally distributed continuous data between groups, and the Wilcoxon rank-sum test was used for comparison of non-normally distributed continuous data between groups; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. The univariate and multivariate Cox proportional-hazards regression models were used to identify independent predictive factors for ACLF. The receiver operating characteristic (ROC) curve was used to assess the predictive performance of CRP and existing scoring systems (Model for End-Stage Liver Disease [MELD], Child-Turcotte-Pugh [CTP] score, and Chronic Liver Failure Consortium Acute Decompensation [CLIF-C AD] score), and the restricted cubic spline analysis was used to investigate the nonlinear relationship between CRP and the risk of ACLF. Youden index was used to determine the optimal predictive cut-off value for CRP, and the Kaplan-Meier survival curve was plotted for risk stratification, while the log-rank test was used for survival analysis. ResultsAmong the 906 AD patients, the incidence rate of ACLF was 25.39% within 90 days. The incidence rate of ACLF within 90 days was 45.1% in the 264 patients with bacterial infection and 17.3% in the 642 patients without bacterial infection (χ²=74.791, P<0.001). Among the 906 patients, 312 patients (34.44%) had acute-on-chronic pre-liver failure (pre-ACLF), with a significantly higher proportion of patients who progressed to ACLF than those in the non-pre-ACLF group [60.58% (189/312) vs 6.90% (41/594), χ²=310.234, P<0.001]. Among the 230 patients with ACLF, there were 102 patients with stable ACLF (44.35%) and 128 patients with unstable ACLF (55.65%), with a significant difference in CRP between the two groups of patients (U=5 234.500, P<0.001). The restricted cubic spline analysis showed a significant nonlinear relationship between CRP and the risk of ACLF (P<0.001). The optimal cut-off value of CRP was determined as 10.16 mg/L based on the Youden index, with a sensitivity of 70.4% and a specificity of 64.5%. The Kaplan-Meier curve analysis showed that the high-risk group with CRP≥10.16 mg/L had a significantly higher event-free survival rate of ACLF within 90 days compared with the low-risk group (P<0.001). The multivariate Cox regression analysis showed that AD type-hepatic encephalopathy (hazard ratio [HR]=4.199, 95% confidence interval [CI]: 3.056 — 5.770, P<0.001), AD type-bacterial infection (HR=1.826, 95%CI: 1.356 — 2.459, P<0.001), CRP (≥10.16 mg/L) (HR=2.356, 95%CI: 1.825 — 3.047, P<0.001), white blood cell count (HR=1.021, 95%CI: 1.002 — 1.041, P=0.035), hemoglobin (HR=0.994, 95%CI: 0.989 — 0.999, P=0.025), international normalized ratio (HR=1.657, 95%CI: 1.372 — 2.001, P<0.001), total bilirubin (HR=1.003, 95%CI: 1.002 — 1.004, P<0.001), albumin (HR=0.956, 95%CI: 0.926 — 0.986, P=0.004), creatinine (HR=1.005, 95%CI: 1.004 — 1.006, P<0.001), serum sodium (HR=0.976, 95%CI: 0.956 — 0.997, P=0.025), and lactate dehydrogenase (HR=1.001, 95%CI: 1.001 — 1.002, P<0.001) were all independent predictive factors for progression to ACLF within 90 days. The ROC curve analysis showed that CRP alone had an area under the ROC curve (AUC) of 0.724 (95%CI: 0.685 — 0.763) in predicting ACLF, and CRP+MELD score had the best predictive performance (AUC=0.870, 95%CI: 0.843 — 0.898), while CRP+CTP score and CRP+CLIF-C AD score had an AUC of 0.852 (95%CI: 0.823 — 0.881) and 0.845 (95%CI: 0.812 — 0.877), respectively. There was a significant increase in model performance after integration (P<0.05). ConclusionSerum CRP level on admission is an independent predictive factor for progression to ACLF within 90 days in patients with AD of cirrhosis, and a CRP level of ≥10.16 mg/L can be used as a simple threshold for identifying high-risk patients. Incorporating CRP into existing assessment systems may enhance the early identification of patients at a high risk for ACLF, which provides a reference for clinical intervention.
4.Prevalence and influencing factor of high myopia with fundus lesions in active-duty military personel
Shuqi SONG ; Di HUANG ; Xiaojuan LI ; Xueying WANG ; Zhenzhen WU ; Yongfeng SUN
International Eye Science 2026;26(10):1860-1864
AIM:To investigate the prevalence of ocular fundus lesions among active-duty military personnel with high myopia and to analyze the associated influencing factors.
METHODS: A cross-sectional study. Subjects included military personnel with high myopia(≤-6.00 D)and elongated axial length(≥26 mm). A systematic evaluation protocol was implemented, consisting of standardized questionnaires, general physical health examinations, and comprehensive ophthalmic assessments. Optical coherence tomography(OCT)was used to screen for fundus lesions in highly myopic subjects, and the prevalence of related lesions was calculated. Axial length, refractive error, best-corrected visual acuity(BCVA), and macular ganglion cell complex(GCC)thickness were measured. Univariate analysis was performed to compare differences in the above parameters between highly myopic subjects with and without concomitant fundus lesions. Multivariate Logistic regression analysis was further applied to identify risk factors for fundus lesions.
RESULTS:A total of 134 male patients(268 eyes)were enrolled, with the mean age of 24.5±3.2 y. Of the 268 eyes, 123 eyes(45.9%)showed positive signs of fundus lesions. Among these, parapapillary blood flow density reduction was found in 84 eyes(31.3%), GCC thinning in 46 eyes(17.2%), drusen in 8 eyes(3.0%), optic disc edema in 7 eyes(2.6%), retinoschisis in 6 eyes(2.2%), and choroidal excavation in 3 eyes(1.1%). BCVA was significantly lower in highly myopic patients with retinoschisis than in those without retinoschisis(P<0.05).Univariate analysis showed that refractive error, axial length, and posterior scleral expansion were associated with the occurrence of fundus lesions(P<0.05). Multivariate Logistic regression analysis revealed that axial length(OR=2.52, 95%CI: 1.67-3.80, P<0.001)and posterior scleral expansion(OR=3.12, 95%CI: 1.65-5.92, P<0.01)were significant risk factors for fundus lesions in highly myopic military personnel.
CONCLUSION: The prevalence of fundus lesions is relatively high among active-duty military personnel with high myopia. Peripapillary flow density reduction and GCC thinning are the most common manifestations in this population. Increased axial length and posterior scleral ectasia are significant contributing factors. It is recommended that OCT be incorporated into routine ophthalmic examinations for these military personnel, thereby providing a basis for the early detection and intervention of fundus lesions.
5.Effect of macrophage lipolysis-stimulated lipoprotein receptor deficiency on a mouse model of metabolic dysfunction-associated steatohepatitis
Hang MENG ; Qianfeng JIA ; Shanshan DU ; Jiashu XU ; Yongfeng GONG ; Cai MA
Journal of Clinical Hepatology 2026;42(9):2093-2105
ObjectiveTo investigate whether macrophage lipolysis-stimulated lipoprotein receptor (LSR) deficiency affects the progression of metabolic dysfunction-associated steatohepatitis (MASH) by activating the Yes-associated protein (YAP) signaling pathway. MethodsMale wild-type (WT) mice and macrophage-specific Lsr knockout (LsrMφKO, KO) mice, with an age of 8 weeks and similar body weights, were selected and fed with a normal diet, a high-fat diet (HFD), or a high-fat high-cholesterol (HFHC) diet for 30 weeks. HE staining and oil red O staining were used to evaluate liver pathological changes; immunofluorescent staining was used to measure the expression levels of F4/80 and α-smooth muscle actin; RT-qPCR and Western blot were used to measure the levels of markers associated with lipid metabolism, inflammation, and fibrosis. Bone marrow transplantation rescue experiments (WT→KO vs KO→KO groups) were conducted to explore the functional role of LSR in macrophages. At the cellular level, hepatic macrophages were isolated from WT and KO mice to measure the expression levels of YAP signaling pathway-related proteins and their downstream target genes, and in addition, these cells were treated in vitro with verteporfin (VP), a specific inhibitor of YAP, to verify the regulatory effect of this pathway on the expression of inflammatory factors. The independent samples t-test was used for comparison of normally distributed measurement data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed measurement data. ResultsUnder the condition of normal diet, there were no significant differences in hepatic indicators between WT and KO mice. KO mice fed an HFD or HFHC diet showed a significant increase in hepatic lipid droplet accumulation, accompanied by lipid metabolism disorder and significant increases in the levels of indicators associated with inflammation and fibrosis (P<0.05). Bone marrow transplantation experiments confirmed that compared with the KO→KO group, the WT→KO group had significant alleviation of liver injury (P<0.05). Mechanistic studies showed that there were significant reductions in the levels of phosphorylated large tumor suppressor kinase 1 (LATS1) and phosphorylated YAP and significant increases in the expression levels of total YAP protein and its downstream target genes in hepatic macrophages of KO mice (P<0.05). In vitro VP intervention significantly inhibited the expression levels of inflammatory factors in hepatic macrophages isolated from KO mice (P<0.05). ConclusionMacrophage LSR deficiency activates the YAP signaling pathway by inhibiting LATS1/2 kinase activity and promotes the expression of inflammatory factors, thereby accelerating the progression of liver injury in a mouse model of MASH.
6.Etiology spectrum, clinical features, and gene mutations of unexplained intrahepatic cholestasis: An analysis of 62 cases
Jialuo WANG ; Yufeng ZHENG ; Qingfang XIONG ; Yongfeng YANG
Journal of Clinical Hepatology 2025;41(2):307-313
ObjectiveTo investigate the etiology and clinical features of intrahepatic cholestasis and the diagnostic value of whole exome sequencing (WES) through a retrospective analysis of the medical history, pathological results, and gene sequencing data of 62 patients with unexplained intrahepatic cholestasis. MethodsA retrospective analysis was performed for the clinical data of 480 patients who underwent WES due to unexplained liver function abnormalities in Nanjing Second Hospital from January 2017 to December 2023, among whom 62 patients with unexplained intrahepatic cholestasis were selected based on laboratory data, and a confirmed diagnosis was made based on imaging data, pathological findings, and gene sequencing data. The patients with unexplained intrahepatic cholestasis were analyzed in terms of demographic features, clinical manifestation, etiology spectrum, and genetic profile. ResultsA total of 62 patients with unexplained intrahepatic cholestasis were included, among whom there were 35 male patients and 27 female patients, with a median age of 42 (7 — 77) years. WES was used to make a definite diagnosis in 21 patients (33.87%), among whom the patients with familial intrahepatic cholestasis accounted for the highest proportion of 52.38% (11/21); genetic metabolic disorders were excluded by WES in 34 patients, with drug-induced liver injury and sepsis-associated liver injury accounting for the highest proportion of 55.88% (19/34), followed by primary biliary cholangitis and primary sclerosing cholangitis accounting for 20.59% (7/34) and intrahepatic bile duct stones accounting for 17.65% (6/34), while the patients with a lack of confirmed diagnosis accounted for 11.29% (7/62). A total of 21 novel mutation sites which were not reported in previous articles were identified in this study. ConclusionGenetic metabolic disorders constitute a significant proportion of unexplained intrahepatic cholestasis, and WES plays a crucial role in the diagnosis of unexplained intrahepatic cholestasis.
7.An analysis of the disease burden of acute viral hepatitis in China and globally from 1990 to 2021
Siwei ZHENG ; Shasha LI ; Jialuo WANG ; Yiran LIU ; Yongfeng YANG
Journal of Clinical Hepatology 2025;41(10):2013-2021
ObjectiveTo analyze the changing trend of the disease burden of acute viral hepatitis (AVH) globally and in China from 1990 to 2021, and to provide a basis for optimizing prevention and control strategies. MethodsRelated data were extracted from the Global Burden of Disease 2021 database, including incidence rate, mortality rate, and disability-adjusted life years (DALY) for AVH globally and in China from 1990 to 2021, and the patients were divided into groups according to region, age, sex, and type of hepatitis. The Joinpoint regression model was used to calculate average annual percentage change (AAPC) and its 95% confidence interval (CI). ResultsFrom 1990 to 2021, there was a tendency of reduction in the age-standardized incidence rate, mortality rate, and DALY rate of AVH globally, with an average annual reduction of 1.02% (95%CI: -1.10% to -0.94%, P<0.001), 3.97% (95%CI: -4.12% to -3.82%, P<0.001), and 3.64% (95%CI: -3.84% to -3.44%, P<0.001), respectively; in China, there was also a tendency of reduction in these indicators, with an average annual reduction of 1.63% (95%CI: -1.70% to -1.57%, P<0.001), 9.24% (95%CI: -9.51% to -8.97%, P<0.001), and 7.93% (95%CI: -8.15% to -7.71%, P<0.001), respectively. In addition, China’s share of the global disease burden of AVH continued to decrease; the proportion of new cases decreased from 24% in 1990 to 15% in 2021, the proportion of deaths decreased from 19% to 4%, and the proportion of DALY decreased from 16% to 4%. From 1990 to 2021 globally, the peaks in the incidence rate, mortality, and DALY of AVH were observed in children under 5 years of age; in China, although the peak incidence rate of the disease was still observed in children under 5 years of age, there was a tendency of increase in the incidence rate of AVH among young adults aged 25 — 29 years in recent years, with the most significant increase in the cases of acute hepatitis B (accounting for 59% of the cases in this age group), while the disease burden of mortality and DALY mainly affected the middle-aged and elderly populations. The disease burden of AVH in the male population was higher than that in the female population. As for the distribution of disease types, acute hepatitis A was the predominant type of AVH, accounting for 64% globally and 48% in China, whereas acute hepatitis B was the leading cause of mortality and DALY, accounting for 50% of deaths globally, 80% of deaths in China, 47% of DALY globally, and 69% of DALY in China. ConclusionThere is a tendency of reduction in the disease burden of AVH globally and in China from 1990 to 2021, but there is a tendency of increase in the incidence rate of AVH among young adults in China, especially acute hepatitis B. It is necessary to implement targeted prevention and control strategies.
8.The diagnostic value of preoperative PET-CT examination for lymph node metastasis in early non-small cell lung cancer
Jia LI ; Qingwu ZHAO ; Yongfeng LI ; Jicai CHEN ; Yuan ZHENG ; Yu LIN ; Dongqun LIN ; Huanqi MO
Chongqing Medicine 2025;54(10):2386-2390
Objective To evaluate the diagnostic value of preoperative positron emission computed-tomography(PET-CT)examination for lymph node metastasis in early non-small cell lung cancer(NSCLC).Methods A total of 232 early-stage NSCLC patients who underwent preoperative PET-CT examination and radical surgery for lung cancer in the hospital from January 2019 to April 2023 were selected.Clinical data,PET-CT examination results,and lymph node dissection pathology were collected to calculate the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of PET-CT diagnosis of NSCLC lymph node metastasis.The maximum standard uptake value(SUVmax)of the primary lesion and the predic-tive value of lymph node SUVmax for early NSCLC lymph node metastasis were evaluated by the receiver op-erating characteristic(ROC)curve.Results The accuracy of PET-CT examination in the diagnosis of NSCLC was 95.69%,the accuracy of lymph node metastasis diagnosis was 85.78%,the sensitivity was 35.56%,the specificity was 97.86%,the positive predictive value was 80.00%,and the negative predictive value was 86.32%.There was a statistically significant difference in the detection rate of PET-CT examination and path-ological results among pulmonary nodules of different natures and sizes(P<0.01).For predicting lymph node metastasis in NSCLC,the cutoff point of SUVmax in the primary lesion was 3.83(P<0.001),and the cutoff point of SUVmax in lymph nodes was 3.07(P<0.001).Conclusion In early NSCLC,preoperative PET-CT examination has a high diagnostic accuracy for ground glass nodule lymph node metastasis,but its di-agnostic value for solid nodule lymph node metastasis is limited and insufficient to guide lymph node dissec-tion.Primary lesion SUVmax≥3.83 or lymph node SUVmax≥3.07 are high-risk factors for early lymph node metastasis in lung cancer.
9.Study on electroacupuncture in improving depression in mice with chronic pain
Yusu SHI ; Jing HAN ; Xuanyu ZHANG ; Li LIN ; Yongfeng LI
International Journal of Traditional Chinese Medicine 2025;47(9):1236-1242
Objective:To observe the effect of electroacupuncture on depression in chronic pain mice; To explore its mechanism.Methods:36 C57BL/6J mice were divided into a blank control group, a sham-operation group, a model group, and an electroacupuncture group using a random number table method, with 9 mice in each group. The chronic compression injury model of sciatic nerve was established in the model group and electroacupuncture group. Mechanical pain threshold (MWT) and latent heat wave leg reflex (TWL) were measured on preoperative day 1 and postoperative days 4, 7, 14, 21, and 35. Electroacupuncture treatment was performed on the 14th day after modeling, and on the 35th day after modeling, open field experiments, elevated cross maze experiments, forced swimming experiments, and tail suspension experiments were conducted to evaluate depressive like behavior in mice. Western blot was used to detect the protein expressions of glutamate receptor 1 (GluA1), glutamate receptor 2 (GluA2), human glucose transporter 3 (GLUT3), and calmodulin dependent protein kinase Ⅱ (CaMKⅡ) in the hippocampus of each group of mice; GluA1 positive cells in the hippocampus of mice was observed using immunofluorescence technology.Results:Compared with the blank group, the MWT and TWL value of the model group decreased ( P<0.05) on postoperative days 4, 7, 14, and 21. Compared with the model group, the electroacupuncture group had a longer stay time in the central area of the open field ( P<0.01), an increased percentage of stay time and activity frequency in the elevated arm opening ( P<0.01), a shorter static time for forced swimming ( P<0.01), and a shorter immobility time for the suspended tail ( P<0.01). Compared with the model group, the expressions of GluA1, GLUT3, GluA2, and CaMKⅡ proteins in the hippocampus of mice in the electroacupuncture group increased ( P<0.05), and the number of GluA1 positive cells increased ( P<0.05). Conclusion:Electroacupuncture can affect synaptic plasticity by regulating the AMPA receptor in the hippocampal region, thereby improving depressive mood caused by chronic pain.
10.Expression of GALNT1 mRNA and LAMTOR5 mRNA in Gastric Cancer and Their Correlation with Epithelial Mesenchymal Transition and Clinical Prognostic Value
Jun XU ; Jinfeng JI ; Yongfeng CAO ; Jieyun MA
Journal of Modern Laboratory Medicine 2025;40(3):52-58
Objective To investigate the correlation and clinical prognostic value between the expression of polypeptide N-acety lgalactosaminyltransferases 1(GALNT1),lysosomal adaptor MTOR activator 5(LAMTOR5),and epithelial mesenchymal transition(EMT)in gastric cancer.Methods 102 gastric cancer patients admitted to Nantong Tumor Hospital from January 2018 to January 2020 were selected.Immunohistochemistry(IHC)and real-time fluorescence quantitative PCR(RT-PCR)were used to detect the expression of GALNT1,LAMTOR5 mRNA and protein,as well as the expression of EMT indicators Snail mRNA,N-cad mRNA and Vimentin mRNA in cancer and adjacent tissues.Pearson correlation analysis was performed to investigate the correlation between markers.Kaplan Meier curve analysis was used to investigate the relationship between GALNT1 mRNA,LAMTOR5 mRNA and the prognosis of gastric cancer patients.COX regression analysis was used to identify factors that affect the prognosis of gastric cancer patients.Results GALNT1 mRNA(3.38±0.29)and LAMTOR5 mRNA(3.17±0.26)in gastric cancer tissue were higher than those in adjacent tissues(0.72±0.16,0.65±0.13),and the differences were statistically significant(t=81.111,87.553,all P<0.001).The positive rates of GALNT1(92.16%),LAMTOR5(90.20%)proteins in gastric cancer tissues were higher than those in adjacent tissues(7.84%,11.76%),and the differences were statistically significant(χ2=145.020,125.538,P<0.001).The expression of GALNT1 mRNA and LAMTOR5 mRNA in gastric cancer was positively correlated(r=0.757,P<0.001).The expression of GALNT1 mRNA and LAMTOR5 mRNA in gastric cancer was significantly positively correlated with Snail mRNA,N-cad mRNA and Vimentin mRNA expression(r=0.654,0.712,0.689;0.706,0.645,0.723,all P<0.001).The expression of GALNT1 mRNA and LAMTOR5 mRNA was correlated with TNM stage and lymph node metastasis in gastric cancer patients.The expression of GALNT1 mRNA and LAMTOR5 mRNA in cancer tissues with TNM stage III and lymph node metastasis was higher than that in TNM stage I~II and no lymph node metastasis,and the differences were statistically significant(χ2=29.417~290.104,all P<0.001).The 3-year overall survival rate of the high expression group of GALNT1 mRNA was 40.00%(20/50),which was lower than 76.92%(40/52)of the low expression group,the 3-year overall survival rate of the high expression group of LAMTOR5 mRNA was 38.78%(19/49),which was lower than the 77.36%(41/53)of the low expression group,and the differences were statistically significant(Log-Rank χ2=7.327,5.197,P=0.009,0.023).TNM stage III,lymph node metastasis,GALNT1 mRNA was highly expressed,and high LAMTOR5 mRNA was highly expressed were risk factors affecting the prognosis of gastric cancer(Wald χ2=6.409~16.805,all P<0.001).Conclusion The expression of GALNT1 and LAMTOR5 are elevated in gastric cancer tissues.Both of them are related to EMT indicators and adverse clinicopathological features.They are biomarkers for evaluating the prognosis of gastric cancer patients.

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