Association of tuberous sclerosis gene 1/2 mutations with the progression of hepatocellular carcinoma and prognosis

Yong ZHANG; Zhengfa MAO

doi:10.3969/j.issn.1001-5256.2021.01.017

Volume 37 Issue 1

Jan. 2021

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Association of tuberous sclerosis gene 1/2 mutations with the progression of hepatocellular carcinoma and prognosis

DOI: 10.3969/j.issn.1001-5256.2021.01.017

Yong ZHANG,
Zhengfa MAO^,

Department of General Surgery, The Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 225500, China

Received Date: 2020-07-02
Accepted Date: 2020-08-03
Published Date: 2021-01-20

Abstract

Abstract

Objective To investigate the association of tuberous sclerosis gene 1/2 (TSC1/2) mutation with disease severity and prognosis in patients with hepatocellular carcinoma (HCC), and to provide a feasible basis for the diagnosis and treatment of HCC. Methods A total of 492 patients with HCC who were admitted to The Affiliated Hospital of Jiangsu University from January 2012 to January 2020 were enrolled, among whom 59 had TSC1/2 mutations (20 with TSC1 mutations, 41 with TSC2 mutations, and 2 had both TSC1 and TSC2 mutations). The clinical features of patients with TSC1/2 mutations were analyzed, and the association of TSC1/2 mutations with the clinical stage of HCC was analyzed. The 35 patients in the mutation group and 35 in the non-mutation group were followed up for 3 years to observe the effect of TSC1/2 mutations on the prognosis of HCC. The chi-square test was used for comparison of categorical data between groups; the Kruskal-Wallis H test was used for comparison of ranked data between groups; a multivariate logistic regression analysis was used to investigate association; the Kaplan-Meier survival analysis was used to analyze follow-up data. Results For the 492 patients with HCC, the overall TSC1/2 mutation rate was 11.99%. There were no significant differences in sex, age, Child score, and tumor size between the TSC1/TSC2 mutation group and the non-mutation group (all P > 0.05), while there were significant differences in tumor number, extrahepatic metastasis, and PS score between the two groups (all P < 0.05). The logistic regression analysis showed that TSC1/TSC2 gene mutation was positively correlated with the severity of HCC (odds ratio=1.706, P < 0.05). The follow-up results showed that the TSC1/2 mutation group had a significantly lower survival rate than the non-mutation group, and there was a significant difference in 3-year mortality rate between the TSC1/2 mutation group and the non-mutation group (60.3% vs 38.6%, χ²=3.923, P < 0.05). Conclusion TSC1/TSC2 gene mutation may predict the malignant progression of HCC in the early stage, and patients with TSC1/2 mutation tend to have poor prognosis. Targeted drug therapy for gene mutations may have a certain effect in delaying the progression of HCC.
- Carcinoma, Hepatocellular,
- Tuberous Sclerosis,
- Gene,
- Mutation

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Association of tuberous sclerosis gene 1/2 mutations with the progression of hepatocellular carcinoma and prognosis

DOI: 10.3969/j.issn.1001-5256.2021.01.017

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Association of tuberous sclerosis gene 1/2 mutations with the progression of hepatocellular carcinoma and prognosis

DOI: 10.3969/j.issn.1001-5256.2021.01.017

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