Cowden syndrome in children caused by a new mutation of PTEN gene: a case report and literature review / 中华实用儿科临床杂志

Objective:To summarize the clinical and gene mutation characteristics of a child with Cowden syndrome and review the literature.Methods:The clinical data of a child with Cowden syndrome treated in the First Affiliated Hospital of Xinxiang Medical University in June 2020 were analyzed retrospectively.Taking " Cowden syndrome" , " PTEN gene" , " hamartoma polyps" , "child" , " Cowden syndrome and child" and " PTEN and child" as key words, literature was retrieved from Chinese databases (China National Knowledge Internet database and Wanfang database) and the PubMed database from the establishment of the database to March 2021. Results:A 13-year-old male had intermittent abdominal pain and abdominal distension for 5 months.Electron microscopic gastroenteroscopy showed multiple polyps, and focal lymphocyte aggregation and infiltration were found in tissue biopsy.Whole exon sequencing revealed a hemizygous mutation of c. 475 (exon5) A>T in PTEN gene, which led to the transformation of the 159 th amino acid from arginine to tryptophan.The prediction results of the tertiary structure of the protein indicated that the variation might affect the spatial structure of the protein and damage the protein function.According to the clinical characteristics, Cowden syndrome was diagnosed.The pedigree confirmed that the variation was inherited from the mother, who had a similar phenotype.No qualified Chinese report was retrieved.Among 41 English studies on PTEN gene mutation in children, there were only two reports related to pediatric Cowden syndrome.The hemizygous mutation of PTEN gene was not reported. Conclusions:The missense mutation of c. 475 (exon5) A>T in PTEN gene in this study is a novel cause of Cowden syndrome, and the case is the first case report in China.

SOLAMEN syndrome in a Filipino child

@#Asymmetric overgrowth syndromes are a diverse group of diseases with overlapping features including asymmetric overgrowth of a body part, vascular malformations, lipomatosis, and epidermal nevus. Three important considerations when presented with these features are Proteus syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Skeletal anomalies) syndrome and SOLAMEN (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus) syndrome. This paper aimed to present a rare case of asymmetric overgrowth syndrome. A 3-year-old child with asymmetric overgrowth of the right upper and lower extremities was seen at the clinic. He also had epidermal nevus, lipomatosis, skeletal abnormalities, and vascular malformation. The history showed the presence of segmental proportionate overgrowth with soft tissue hypertrophy and ballooning effect based specifically on the location, timing, and progression of overgrowth. On physical examination, macrocephaly was also noted. Based on these features, the diagnosis of SOLAMEN syndrome was made. This is the first reported case of SOLAMEN syndrome in the Philippines. The importance of a careful and thorough history and physical examination cannot be overemphasized. A multidisciplinary approach in management with appropriate referral to subspecialists and early monitoring for possible malignancies are needed.

MicroRNA-23a knockdown attenuates angiotensin Ⅱ induced hypertrophy in rat H9c2 cells via activating PTEN and AMPK pathway / 中华心血管病杂志

Objective: To investigate if microRNA (miR) -23a knockdown could attenuate angiotensin Ⅱ(AngⅡ) induced cardiac hypertrophy by activating phosphatase and tensin homolog deleted on chromosome ten(PTEN) and AMP-activated protein kinase(AMPK) pathway. Methods: Rat H9c2 cells were cultured in DMEM high glucose medium and put in 5% CO(2) incubator at 37 ℃(normal group). After 48 hours of culture, H9c2 cells were stimulated with 10 nmol/L AngⅡ to establish cell hypertrophy model (AngⅡgroup). The H9c2 cells were inoculated in a 6-well cell culture plate and cultured in an incubator at 37 ℃. When the confluence degree of cell growth was about 70%, the cells were transfected with different reagents, and 24 hours after transfection, 10 nmol/L AngⅡ was used to interfere with the cells. The H9c2 cells were divided into different groups according to the reagents, namely AngⅡ+anti-miR group(transfected with miR-23a inhibitor), Ang Ⅱ+NC group(transfected with miR-23a inhibitor negative control), Ang Ⅱ+anti-miR+si-PTEN group(cotransfected with miR-23a inhibitor and PTEN small interference RNA(siRNA)), and AngⅡ+anti-miR+si-NC group(cotransfected with miR-23a inhibitor and PTEN siRNA negative control). The surface area of single cell was measured by Image J software.The mRNA expression levels of α-actin 1 (ACTA1) and β-myosin heavy chain (β-MHC) and miR-23a were detected by quantitative real-time PCR(qRT-PCR). The expression levels of PTEN and AMPK signal pathway related proteins were detected by Western blot. In order to verify whether miR-23a targets PTEN gene, double luciferase reporter gene experiment was performed. The luciferase reporter gene vector recombinant plasmids of wild type pGL-WT-PTEN and mutant pGL-MUT-PTEN were constructed and prepared after normal sequencing. H9c2 cells was inoculated into 24-well cell culture plate and cultured overnight in 37 ℃ incubator. The cells were co-transfected with miR-23a mimic or miR-23a mimic negative control and wild type or mutant reporter gene recombinant plasmid. Forty-eight hours after transfection, firefly luciferase activity and sea kidney luciferase activity were measured, and the ratio of them was recorded as relative luciferase activity. Results: Compared with the normal group, the cell surface area, the mRNA expression levels of ACTA1, β-MHC and miR-23a were significantly higher, while the protein expression levels of PTEN and p-AMPK were significantly lower in the Ang Ⅱ group(all P<0.05). The results of double luciferase reporter gene assay showed that the relative luciferase activity of cells co-transfected with miR-23a mimic and wild-type reporter gene recombinant plasmid was lower than that of miR-23a mimic negative control (P<0.05), and PTEN served as the target gene of miR-23a. In AngⅡ+anti-miR group the mRNA expression levels of miR-23a, ACTA1 and β-MHC were lower, and the cell surface area was smaller, while the protein expression levels of PTEN and p-AMPK were higher than that in AngⅡ group and AngⅡ+NC group(all P<0.05). Compared with AngⅡ+anti-miR group, the cell surface area was bigger, the expression of ACTA1 and β-MHC mRNA was up-regulated, and the protein expression levels of PTEN and p-AMPK were down-regulated in Ang Ⅱ+anti-miR+si-PTEN group(all P<0.05). Conclusion: Inhibition of miR-23a can attenuate Ang Ⅱ-induced hypertrophy in H9c2 cells through targeting PTEN and activating AMPK signaling pathway.

Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.

miR-20a induces cell radioresistance by targeting PTEN in hepatocellular carcinoma / 中华放射肿瘤学杂志

Objective To explore the role and mechanism of miR-20a in the radiosensitivity of hepatocellular carcinoma (HCC). Methods The expression level of miR-20a in HCC cell lines and tissue specimens was detected by real-time fluorescent quantitative PCR.HCC cell line stably over-expressing miR-20a was constructed. The effect of miR-20a on HCC cell radiosensitivity was evaluate by cloning assay. The expression levels of Bcl-2,Caspase-3 and γ-H2AX proteins were quantitatively detected by Western blot. The target gene of the downstream regulation of miR-20a was predicted by bioinformatics analysis,which was further verified by dual luciferase reporter assay,real-time fluorescent quantitative PCR and Western blot. HCC cell line stably overexpressing miR-20a was transfected with pCDNA3. 0-PTEN to investigate the changes in the radiosensitivity of cells and to determine whether PTEN is a functional target gene for miR-20a-induced radioresistance of HCC. Results The expression levels of miR-20a was significantly up-regulated in HCC cell line and tissue specimens ( both P< 0. 05). After identical radiotherapy, the cell survival rate,the radioresistance was strengthened ( P< 0. 05),the expression of Bcl-2 was up-regulated, whereas the expression levels of Caspase-3 and γ-H2AX were down-regulated in the LV-miR-20a group compared with those in the blank and control groups ( WT and LV-con groups). Overexpression of PTEN could reverse the miR-20a-induced radioresistance. Conclusion miR-20a is up-regulated in the HCC cell lines and tissue specimens. Overexpression of miR-20a can promote the radioresistance of HCC cells. PTEN is a functional target gene for miR-20a-induced radioresistance of HCC,indicating that miR-20a/ PTEN site may be an effective molecular target associated with clinical radiotherapy for liver cancer.

Correlation between single nucleotide polymorphisms of tumor suppressor gene PTEN and nasopha-ryngeal carcinoma / 新乡医学院学报

Objective To investigate the relationship between single nucleotide polymorphisms of tumor suppressor gene PTEN and nasopharyngeal carcinoma in Jiamusi Han population. Methods The blood samples of 132 patients with naso-pharyngeal carcinoma(nasopharyngeal carcinoma group)and 73 healthy people(control group)were selected from September 2008 to January 2018 in the First Affiliated Hospital of Jiamusi University. The whole genome DNA was extracted,and the pol-ymorphisms of rs532678 and rs701848 were detected by restriction fragment length polymorphism analysis. The relationship be-tween the polymorphism of PTEN gene and nasopharyngeal carcinoma was analyzed. Results The genotype and allele frequen-cy distributions of rs532678 and rs701848 loci were in line with the Hardy-Weinberg genetic balance law in the two groups (P > 0. 05). The genotypic frequency of CC,CT and TT at the rs532678 locus of PTEN gene in the control group was 0. 630, 0. 342 and 0. 027 respectively;and the allele frequency of C and T was 0. 801 and 0. 198 respectively. The genotypic frequency of CC,CT and TT at the rs532678 locus of PTEN gene in the nasopharyngeal carcinoma group was 0. 716,0. 265 and 0. 015 re-spectively;and the allele frequency of C and T was 0. 852 and 0. 147 respectively. There was no significant difference in geno-type distribution and allele frequency distribution at the rs532678 locus of PTEN gene between the two groups(P > 0. 05). The genotypic frequency of CC,CT and TT at the rs701848 locus of the PTEN gene in the control group was 0. 657,0. 342 and 0. 000 respectively;and the allele frequency of C and T was 0. 828 and 0. 171 respectively. The genotypic frequency of CC,CT and TT at the rs701848 locus of PTEN gene in the nasopharyngeal carcinoma group was 0. 424,0. 500 and 0. 075 respectively;and the allele frequency of C and T was 0. 674 and 0. 325 respectively. The frequencies of CT,TT genotype and T allele of rs701848 locus in the nasopharyngeal carcinoma group were significantly higher than those in the control group(P < 0. 05). The frequencies of CC genotype and C allele in the nasopharyngeal carcinoma group were significantly lower than those in the control group(P < 0. 05). The individual with CT + TT genotype at the rs701848 locus of PTEN gene had higher risk for naso-pharyngeal carcinoma(P < 0. 05,OR = 2. 606,95％ confidence interval:1. 439 - 4. 720). The risk for nasopharyngeal carcino-ma in the individual with CT + TT genotype was 2. 606 times as much as the individual carrying CC genotype. Conclusion The rs532678 polymorphism of PTEN gene is not associated with the susceptibility to nasopharyngeal carcinoma. The polymor-phism of rs701848 locus is associated with the susceptibility to nasopharyngeal carcinoma. The individual carrying CT + TT genotype has higher risk for nasopharyngeal carcinoma.

The study of association between PTEN gene polymorphisms and schizophrenia of HAN ethnic with type 2 diabetes mellitus in Shanghai / 中国神经精神疾病杂志

Objective To examine the correlation between the gene of phosphate and tension homology deleted on chromosometen (PTEN gene) polymorphism and schizophrenia (SCZ) associated with the type 2 diabetes mellitus (T2DM ) in Shanghai Han population. Methods The study recruited 591 long-stay schizophrenic inpatients including 304 with and 287 without type 2 diabetes mellitus, 206 patients with the type 2 diabetes mellitus and 205 normal subjects from Shanghai Han population. SNPs of PTEN gene (rs1234225, rs12569998, rs1234223) were genotyped by using Taqman genotyping. The frequency distributions of allele, genotype and haplotype between groups were analyzed. Results There were significant differences in the frequency of rs1234223 genotype (P=0.01) and allele distribution (P=0.02) between the SCZ with type 2 diabetes mellitus group and the SCZ without type 2 diabetes mellitus group. The difference of genotype frequencies remained statistically significant (P=0.03) but the allele distribution was not (P=0.06) after Bonferroni correction. Haplotype analysis showed that TTC haplotype was less common in the SCZ with type 2 diabetes mellitus group than in the SCZ without type 2 diabetes mellitus group (P=0.02). Conclusions PTEN gene may be a susceptibility gene for schizophrenia with type 2 diabetes mellitus in Chinese Han population. The TTC haplotype may be a protective factor for schizophrenia with type 2 diabetes mellitus.

PTEN gene regulation in liver fibrosis of rats after splenectomy / 中华肝胆外科杂志

Objective To inve stigate in vestigate the effects of splenectomy on the expression of the PTEN gene in liver fibrosis of rats induced by biliary tract obstruction.Methods The liver fibrosis model was induced by bile duct ligation.Rats were randomly divided into 3 groups.Group A had bile duct ligation + splenectomy (BDL + SPL,45 rats),group B had bile duct ligation + spleen sham operation (BDL + SSP,45 rats),and group C had sham bile duct ligation + spleen sham operation (SBDL + SSP,45 rats).Liver tissue samples from each group were taken in weeks 1,3,and 5.HE and Sirius staining displayed the degree of liver fibrosis.Western-blot,real-time PCR,and immunohistochemistry SP measured the expression of α-smooth muscle actin (α-SMA) together with the expression of PTEN mRNA and PTEN protein.The relevance was also tested in this study.Results As time increased,liver fibrosis gradually occurred in group A and B,and the degree of liver fibrosis was more serious in group B than in group A.The expression volume of PTEN mRNA and PTEN protein in group A was higher than that in group B (P ＜ 0.05),while the expression volume of α-SMA was the opposite (P ＜ 0.05).The expression volume of PTEN mRNA and PTEN protein were negatively correlated to α-SMA (r =-0.86,P ＜ 0.05).Conclusion In the rat liver fibrosis model,splenectomy up-regulated the expression of the PTEN gene and reduced the secretion of α-SMA,thereby delaying the progression of liver fibrosis.

The effect of PTEN expression downregulation on biological characteristics of breast cancer cell line / 中华普通外科杂志

Objective To investigate expression of the phosphatase and tensin homolog (PTEN) gene in breast cancer cell line and its effect on biologic characteristics.Methods The normal PTEN expression cell line MDA-MB-231 (M231) was used in this study.PTEN-shRNA plasmid was transected into M231 breast cancer cells to knock down the expression of PTEN.The changes of PTEN expression,proliferation,invasion and metastasis of PTEN knocked down cell were tested by RT-PCR,Western blot,CCK-8,scratch and Transwell.Results PTEN-shRNA was successfully transected into M231 cells.PTEN mRNA and protein expression was efficiently inhibited in M231-3001 cell lines than that in control group M231-scr(P ＜ 0.01),M231-3001 cell lines showed a greater capability of colony formation,migration and invasion than that in control group M231-scr (all P ＜ 0.05).Conclusions PTEN,as a suppression gene,its low expression can promote the proliferation,migration and invasion of breast cancer cells.

Significance and expression of PTEN, MLL gene in T lymphoblastic lymphoma/leukemia / 白血病·淋巴瘤

Objective To investigate the significance and expression of PTEN, MLL in T lymphoblastic lymphoma/leukaemia(T-LBL/ALL). Methods Seventy-six cases of T-LBL/ALL were studied by using immunohistochemical EnVision method for PTEN. Fluorescence in-situ hybridization (FISH) for MLL gene (located on chromosome 11q23) was performed to detect its breakage and amplification. Results Among the 76 cases ofT- LBL/ALL, the positive rate of PTEN was 64.47 % (49/76), lower than that in reactivated lymphoid tissue (100 %, 20/20) (λ2= 19.220, P ＜0.05). PTEN expression was reversely correlated to theclinical stage, Ki-67 index and LDH level (P ＜0.05). Among the 76 cases, MLL gene with breakage of 11q23 was detected in 13 cases (17.11%), and amplification in 18 cases (23.68 %). Survival rate ot MLL gene breakage group was lower than that of non-breakage group (25.0 %, 43.6 %). Survival rate of MLL gene amplification group was lower than that of non-amplification group too (17.1%, 42.7 %). Both of breakage and amplification were related to prognosis ( λ 2 = 11.357, λ 2 = 4.533; P ＜0.05). Conclusion Anti-oncogene PTEN down-regulation may play an important role on the development and proceeding of T-LBL/ALL. MLL gene with breakage and amplification of 11q23 are helpful to predict prognosis of T-LBL/ALL. The case with MLL gene breakage and amplification of T-LBL/ALL may have a poor prognosis. It hints this group maybe a subtype of T-LBL/ALL.

Cowden's Disease Detected by Gastric Polyposis during Endoscopy in a Routine Check Up: A Case Report / 대한소화기내시경학회지

Cowden's disease, a rare autosomal dominant disorder characterized by benign hamartomatous overgrowth of various tissues, increases the risk of cancer of the thyroid, breast, endometrium, prostate, and possibly other organs. Generally, germline mutations in the coding sequence for PTEN are found in 80% of patients with Cowden's disease. Here we report a rare case of incidentally discovered gastric polyposis during esophagogastroscopy for medical screening in a patient with a history of surgery for breast and thyroid cancer. Identifyng the mutation in the PTEN gene to a diagnosis of Cowden's disease.

Expression and clinical significance of survivin and PTEN in bladder transitional cell carcinoma / 中国基层医药

Objective To investigate the expression and clinical significance of survivin and PTEN in bladder transitional cell carcinoma(TCC).Methods The expression of survivin and PTEN was studied by S-P immunohistochemisty in 10 cases of normal urinary bladder tissues and 62 cases of the bladder TCC. Results All the normal urinary bladder tissues showed positive staining pattern of PTEN protein, negative staining pattern of survivin protein, positive rate of PTEN in 62 cases of the bladder TCC is 46.8%,the difference of positive rate between grade Ⅰ and grade Ⅲ was significant(P＜0.05),the difference of positive rate between Tis～T_1 and T_2～T_4 showed a trend of decreasing, but there was no statistically significant difference(P＞0.05);positive rate of survivin in 62 cases of the bladder TCC is 56.5%,the difference of positive rate between grade Ⅰ and grade Ⅲ was significant(P＜0.05),the difference of positive rate between Tis～T_1 and T_2～T_4 was significant too(P＜0.05).The expression of PTEN protein and survivin protein was reversely correlated(P＜0.05).Conclusion The abnormal expression of PTEN protein and survivin protein play an important role in the occurrence and progress of the bladder TCC.It can be regarded as a useful diagnostic marker in the bladder TCC.

The methylation of PTEN gene in gastric carcinoma / 肿瘤研究与临床

Objective To explore the relationship between the abnormal expression of anti-oncogene PTEN in gastric carcinoma and the clinicopathological characteristics. Methods Mythylation specific PCR was applied to detect the expression of PTEN methylation in gastric carcinoma and their normal tissues from 45 patients. Results The methylation took place in 40.0 percent in gastric carcinoma and 2.2 percent in their normal tissues, and the difference was significant(P<0.05). The methylation rate in poorly differentiated adenocarcinoma was 60.0 percent ,while 15.0 percent in highly-moderately differentiated group, the difference was significant (P<0.05). In the 24 cases with lymph node metastasis, mythylation was observed in 13 cases, and the difference was significant (P<0.05). Conclusion The methylation of PTEN gene was associated with gastric carcinoma, it may play an important role in the development of the disease.

Reversal of Multidrug Resistance and Inhibition of Phosphorylation of AKT in Human Ovarian Cancer Cell Line by Wild-type PTEN Gene / 华中科技大学学报（医学）（英德文版）

The reversing effect of wild-type PTEN gene on resistance of CI3K cells to cisplatin and its inhibitory effect on the phosphorylation of protein kinase B (AKT) were studied. The expression of PTEN mRNA and protein in OV2008 cells and C13K cells were semi-quantitatively detected by using RT-PCR and Western blotting. Recombinant eukaryotic expression plasmid containing human wild-type PTEN gene was transfected into C13K cells by lipofectamine2000. The expression of PTEN mRNA was monitored by RT-PCR and the expression of PTEN, Akt, p-Akt protein were ana- lyzed by Western blotting in PTEN-transfected and non-transfected CI3K cells. Proliferation and chemosensitivity of cells to DDP were measured by MTT, and cell apoptosis was detected by flow cytometry after treatment with cisplatin. The expression of PTEN mRNA and protein in OV2008 cells were significantly higher than those in C13K cells. After transfection with PTEN gene for 48 h, the expression of PTEN mRNA and protein in C13K cells were 2.04±0.10, 0.94±0.04 respectively and the expression of p-Akt protein (0.94±0.07) was lower than those in control groups (1.68±0.14, 1.66±0.10) (P<0.05). The IC50 of DDP to C13K cells transfected with PTEN (7.2±0.3 μmol/L) was obviously lower than those of empty-vector transfected cells and non-transfected cells (12.7±0.4 μmol/l, 13.0±0.3 μmol/L) (P<0.05). The apopototis ratio of wild-type PTEN-transfected, empty vector transfected and non-transfected C13K cells were (41.65±0.87)%, (18.61±0.70)% and (15.28 ±0.80)% respectively, and the difference was statistically significant (P<0.05). PTEN gene plays an important role in ovarian cancer multidrug resistance. Transfection of PTEN could increase the ex- pression of PTEN and restore drug sensitivity to cisplatin in human ovarian cancer cell line C13K with multidrug-resistance by decreasing the expression of p-Akt.

Expression of PTEN and MGMT protein in gynecomastia / 基础医学与临床

Objective To detect the expression of a novo tumor suppressor gene PTEN and DNA direct repair enzyme MGMT in gynecomastia. Methods Immunohistochemical SP method was used to detect expression of PTEN and MGMT protein in 68 cases of gynecomastia(experiment group) and 24 cases of mammary gland of control group. The selected examples were divided into three different age groups and three different histological types. Results The PTEN and MGMT protein were all expressed in nucleusr of ductal cellula epithelialis. The expression level of PTEN and MGMT proteins in gynecomastia was significantly lower than that of mammary gland of control(P

Construction and identification of wild-type PTEN eukaryotic expression vector / 吉林大学学报(医学版)

Objective To construct the recombinant plasmid that highly expressed human subcellular PTEN,in order to provide a basis for further study on its anti-tumor effect. Methods PTEN cDNA was amplified by RT-PCR based on mRNA of placenta.The PCR product was ligated into T-vector,and transfected into E.coli;the obtained T-PTEN plasmid was identified with restrictive digestion and sequencing.PCR was used to incorporte nuclear signal of localization(NSL) into PTEN when T-PTEN was used as template.Then the PCR product was ligated into T-vector,and transfected into E.coli,and T-NSL-PTEN plasmid was obtained.pcDNA3.1 and T-NSL-PTEN were ligated after digested with EcoRⅠand BamHⅠ,and transfected into E.coli,the recombinant vector pcDNA3.1-NSL-PTEN was obtained,and identified with digestion and sequcncing.Results The recombinant expression vector DUM-PTEN and PUM-NSL PTEN were identified by restrictive digestion and DNA sequencing.As expected,by EcoRⅠ and BamHⅠ digestion,it showed the band of 1 200 bp.The sequencing result showed the NSL was incorporated successfully.The recombinant pcDNA3.1-PTEN was obtained with 1 200 bp,the sequencing result showed that its sequence was same as target gene;the recombinant pcDNA3.1-NSL-PTEN was comfirmed by restrictive digestion and sequencing,and the NSL was incorporated successfully. Conclusion The recombinant expression plasmid pcDNA3.1-NSL-PTEN is constructed successfully which can highly express human subcellular PTEN.

Detection of PTEN gene promoter hypermethylation in lung cancer patients / 基础医学与临床

Objective To investigate the status and diagnostic value of aberrant phosphatase and tensin homology deleted on chromosometen(PTEN) gene promoter in tissues, peripheral plasma and BALF of lung cancer patients. Methods We analyzed the methylation of PTEN gene in tissues, peripheral plasma and BALF by methylation specific-PCR. Results The frequency of methylation of promoter of PTEN gene was 26.67%(12/45) in lung cancer tissues, 15.56%(7/45) in peripheral plasma, 22.22%(10/45) in BALF, no methylation product was found in lung tissues without cancer, normal plasma and BALF controls (P

PTEN and p53 Mutations in Endometrial Carcinomas

BACKGROUND: Endometrial carcinomas are pathogenetically classified into two major types; endometrioid carcinoma (EC) and serous carcinoma (SC). The most frequently altered gene in EC is the PTEN tumor suppressor gene (TSG). SC is usually associated with mutations in the p53 TSG. METHODS: To further determine the role of PTEN and p53 mutation in endometrial carcinogenesis, the analysis of 33 endometrial carcinomas, including 28 ECs and 5 SCs, for loss of heterozygosity (LOH) on 10q23 and for mutation in all 9 coding exons of PTEN and the 5-8 exons of p53, using SSCP-PCR methods was carried out. RESULTS: LOH was detected in at least one marker in 12 (54.5%) of 22 ECs, but in only one (20.0%) of 5 SCs. Somatic PTEN mutations were detected in 10 (35.7%) of 28 ECs. PTEN was altered in 67.9% of ECs and in 20.0% of SCs, including those with 10q23 LOH. No PTEN mutations were found among the SCs. Somatic p53 mutations were detected in 2 (7.1%) of 28 ECs and 3 (60.0%) of 5 SCs. CONCLUSIONS: PTEN gene alterations contribute to the pathogenesis of an endometrioid subtype of endometrial carcinoma, but not to the serous type. In contrast, p53 plays an important role in the pathogenesis of SCs.

Correlation between PTEN ⅣS4 gene polymorphisms and risk of developing endometriosis / 第三军医大学学报

0.05).The risk of developing EMS was lower in patients carrying mutant PTEN ⅣS4 (+/+) than in those carrying wild PTEN ⅣS4 (-/-),heterozygous PTEN ⅣS4 (-/+) and mutant PTEN ⅣS4 (+/+) (OR= 3.796,95%CI=1.132 8 to 12.722 7,P

Effects of PTEN gene transfection on apoptosis of human bladder cancer cell lines BIU-87 / 医学研究生学报

Objective:To study the effects of anti-oncogene PTEN transfection on apoptosis of human bladder cancer cell lines,BIU-87,and to bring a new method of gene therapy for bladder cancer. Methods:A eukaryotic expression vector containing PTEN was transfected into BIU-87,and positive cell clones were selected and amplified.Expression of PTEN was detected by RT-PCR.Apoptosis of BIU-87 were measured before and after transfection by in situ cell apoptosis detection kit and flow cytometry. Results:PTEN transfected BIU-87 could steadily express PTEN mRNA,and cell apoptosis significantly increased compared with control groups. Conclusion:Transfection of PTEN might induce apoptosis of bladder cancer cells so as to inhibit the occurrence and development of tumor.