1.Expression of NADPH Oxidase2 in gastric cancer and its correlation with the vascular endothelial growth factor level
Xin SHANG ; Chengkun QIN ; Hongguang SHENG ; Xianping CUI ; Wenmao GENG ; Mengyuan ZHANG
Chinese Journal of Current Advances in General Surgery 2017;20(1):13-17
Objective:To investigate the expression of NADPH Oxidase2 (NOX2) in gastric cancer tissues and its correlation with vascular endothelial growth factor(VEGF) level.Methods:The gastric cancer tissue and the adjacent tumor tissue were obtained from the patients who received radical operation for gastric cancer during July 2014 to July 2015 in Provincial Hospital Affiliated to Shandong University.The expression of NOX2 in the tumor tissue and the adjacent tissue were detected by the immunohistochemistry(IHC) and Western blot.The VEGF level were detected by IHC in gastric cancer tissues.The spearman rank correlation were used to detected the correlation between the NOX2 and VEGF.Results:The positive expression rate of NOX2 in gastric cancer tissue was 47.2% (58/123),and the positive expression rate in the adjacent tissue was 8.13% (10/123),mostly expression in the adjacent was weak positive.The outcome of Western blot show that the NOX2 was up-regulated in the tumor tissue compare to the adjacent tissue [39.0%(48/123)].The expression of NOX2 and the relationship of clinical-pathology showed the expression of NOX2 had no correlation with gender,age,differentiation of tumor (X2 value were 0.852,0.150,5.062,P>0.05).The result of spearman rank correlation showed that the NOX2 was positively correlated with that of VEGF.Conclusion:NOX2 plays an important role in the genesis and development in the gastric cancer,the expression of NOX2 was closely correlated with the VEGF.
2.Expression of genes associated with homologous recombinant repair defects in endometrial cancer and its relationship with clinicopathologic features and immune infiltration
Jinyun WANG ; Shen ZHANG ; Shuangshuang REN ; Xianping SHANG
Chinese Journal of Postgraduates of Medicine 2024;47(7):617-623
Objective:To explore the expression of homologous recombination repair (HRR) deficiency related genes in endometrial cancer and their relationship with clinical pathological features and immune infiltration.Methods:A total of 53 patients with endometrial cancer (endometrial cancer group) who underwent surgical treatment at the Affiliated People′s Hospital of Shandong First Medical University from June 2018 to June 2020 were selected as the study subjects. Clinical data of the patients were retrospectively analyzed, and 50 healthy women who underwent physical examinations were selected as the control group. Clinical and pathological characteristics of 53 patients with endometrial cancer were collected, and real-time fluorescence quantitative polymerase chain reaction (RT-PCR) was performed Methods The mRNA expressions of human breast cancer susceptibility gene 1 (BRCA1), tumor suppressor gene homologous loss phosphatase tensin gene (PTEN) on chromosome 10 in the peripheral blood of the subjects were detected, and the proportions of CD 4+ T cell subsets in peripheral blood monocytes were detected by flow cytometry; Pearson analysis of the correlation between peripheral blood BRCA1, PTEN mRNA expression and various subsets of CD 4+ T cell; Analysis of prognostic factors for endometrial cancer using COX risk regression model. Results:The peripheral blood BRCA1 and PTEN mRNA expression levels in patients with endometrial cancer were higher than those in the healthy control group: 2.87 ± 0.65 vs. 1.02 ± 0.13, 3.25 ± 0.74 vs. 1.01 ± 0.20, and the differences were statistically significant ( P<0.01). The proportion of peripheral blood helper T cell-2 (Th2), helper T cell-17 (Th17), regulatory T cell (Treg) and helper T cell-22 (Th22) in patients with endometrial cancer was significantly higher than that in the healthy control group: (10.72 ± 1.33)% vs. (5.43 ± 0.80)%, (9.78 ± 0.80)% vs. (3.31 ± 0.62)%, (10.81 ± 1.29)% vs. (5.74 ± 0.69)%, (6.09 ± 0.70)% vs. (3.09 ± 0.73)%, and the proportion of helper T cell-1 (Th1) was significantly lower than that in the healthy control group: (5.54 ± 0.90)% vs. (13.07 ± 2.55)%, the difference was statistically significant ( P<0.01). The peripheral blood BRCA1 and PTEN mRNA expression levels were significantly higher in patients with muscle infiltration depth ≥1/2, histological grade G 2 to G 3, lymph node metastasis, and International Federation of Obstetrics and Gynecology (FIGO) stage Ⅲ to Ⅳ than in patients with muscle infiltration depth<1/2, histological grade G 1, no lymph node metastasis, and FIGO stage Ⅰ to Ⅱ, with statistical significance ( P<0.01 or<0.05). Peripheral blood BRCA1 and PTEN mRNA were significantly positively correlated with Th2, Th17, Treg and Th22 ratios ( P<0.01), and negatively correlated with Th1 ratios ( P<0.01). COX risk regression analysis showed that histological grading, FIGO staging, depth of muscle infiltration, peripheral blood BRCA1 and PTEN mRNA expression with lymph node metastasis were all independent prognostic factors for endometrial cancer ( P<0.01 or<0.05). Conclusions:HRR deficiency related genes BRCA1 and PTEN mRNA exhibit high levels in patients with endometrial cancer, and are closely related to muscle infiltration depth, histological grading, lymph node metastasis, and FIGO staging. They can also affect the immune microenvironment of endometrial cancer patients, thereby affecting disease progression and prognosis.
3.DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome
Lili PAN ; Zhe SU ; Yanhua JIAO ; Junjie SUN ; Jianchun YIN ; Hao WANG ; Xianping JIANG ; Shumin FAN ; Hongtao QI ; Rongfei ZHENG ; Yue SHANG
Chinese Journal of Endocrinology and Metabolism 2022;38(4):306-312
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.