Hamartoma folicular basaloide / Basaloid follicular hamartoma

O hamartoma folicular basaloide (HFB) é um tumor anexial raro e benigno, que se assemelha ao carcinoma basocelular (CBC), e pode apresentar manifestações clínicas diversas. Uma mutação no gene PTCH, envolvido na síndrome de Gorlin-Goltz, poderia estar associada à patogênese dessa neoplasia. Descreve-se caso de menina, sete anos, apresentando múltiplas pápulas na face.

Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) and may present with different clinical manifestations. A mutation in the PTCH gene, involved in Gorlin-Goltz syndrome, could be associated with the pathogenesis of this neoplasm. We describe the case of a 7-year-old girl with multiple papules on her face.

Basaloid follicular hamartoma associated with follicular mucinosis and inflammation.

Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma. Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene, which is part of the same pathway involved in Gorlin-Goltz syndrome. Here we present a 9-year-old patient with an asymptomatic congenital lesion on the forehead, which increased in size over the years. Histopathology showed a basaloid follicular hamartoma associated with follicular mucinosis and inflammation. Gorlin-Goltz syndrome was ruled out by clinical examination.

DNA Methylation Profiling of MYC, SMAD2/3 and DNMT3A in Colorectal Cancer.

Epigenetic modifications, particularly DNA methylation, is commonplace and a remarkable factor in carcinogenesis transformation. Conspicuously, previous findings have presented a cluster of irregular promoter methylation alterations related with silencing of tumor suppressor genes, little is accepted regarding their sequential DNA methylation (hypo and hyper) modifications during the cancer progression. In this way, fluctuations of DNA methylation of many genes, especially MYC, SMAD2/3, and DNMT3A, have an impressive central key role in many different cancers, including colorectal cancer (CRC). CRC is distinguished by DNA methylation, which is related to tumorigenesis and also genomic instability. Importantly, molecular heterogeneity between multiple adenomas in different patients with CRC may show diverse developmental phenotypes for these kinds of tumors. Conclusively, studying factors that are involved in CRC carcinogenesis, especially the alterations in epigenetic elements, such as DNA methylation besides RNA remodeling, and histone modification, acetylation and phosphorylation, can be influential to find new therapeutic and diagnostic biomarkers in this type of malignancy. In this account, we discuss and address the potential significant methylated modifications of these genes and their importance during the development of CRC carcinogenesis.

Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.

BACKGROUND: Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1's clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing. METHODS: To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1's National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes' overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data. RESULTS: In our cohort the utility of NF1's clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes' diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist. CONCLUSIONS: Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.

Mechanism of action of forkhead box transcription factors in hepatocellular carcinoma and their prospects as treatment targets / 临床肝胆病杂志

Hepatocellular carcinoma (HCC) is one of the most common malignant cancers and has high incidence and mortality rates and poor prognosis. Forkhead box (FOX) transcription factor family can regulate cell growth, differentiation, and tissue development and plays an important role in tumor. This article reviews the association of the molecular expression of the FOX family with the development, progression, and prognosis of HCC and analyzes the mechanism of action of FOX in the progression of HCC. It is pointed out that FOX family is expected to become a new target for HCC treatment.

Is placental KISS-1 expression associated with first trimester abortion spontaneous?

OBJECTIVE: Several studies have examined biological markers during the first trimester to predict the maintenance of a healthy pregnancy. One such marker is kisspeptin, which is encoded by the KISS-1 gene. We aimed to determine whether firsttrimester pregnancy losses were associated with levels of placental KISS-1 expression. METHODS: This prospective case control study was conducted at a tertiary center. The study group included 27 and 24 patients who underwent dilation and curettage at <10 weeks of gestation, due to first trimester spontaneous pregnancy loss and for elective termination (control), respectively. Placental and decidual tissues from all patients were sectioned and immunohistochemically analyzed for kisspeptin. RESULTS: Age, gravida status, parity number, gestational week, and number of previous abortions did not significantly differ between the groups. KISS-1 expression levels were significantly lower in the group with spontaneous abortion compared with the group with elective termination. The median staining intensity of KISS-1 expression in the elective and spontaneous termination groups were 3 (strong) and 2 (moderate), respectively (P=0.004). KISS-1 expression levels were significantly lower among patients with previous abortions in the elective termination group (P=0.002). CONCLUSION: KISS-1 expression levels were found to be significantly reduced in patients with spontaneous pregnancy loss; KISS-1 plays an important role in the implantation and continuation of pregnancy.

Hypermethylated promoters of tumor suppressor genes were identified in Crohn's disease patients.

BACKGROUND/AIMS: Overwhelming evidence suggests that inflammatory bowel disease (IBD) is caused by a complicated interplay between the multiple genes and abnormal epigenetic regulation in response to environmental factors. It is becoming apparent that epigenetic factors are significantly associated with the development of the disease. DNA methylation remains the most studied epigenetic modification, and hypermethylation of gene promoters is associated with gene silencing. METHODS: DNA methylation alterations may contribute to the many complex diseases development by regulating the interplay between external and internal environmental factors and gene transcriptional expression. In this study, we used 15 tumor suppressor genes (TSGs), originally identified in colon cancer, to detect promoter methylation in patients with Crohn's disease (CD). Methylation specific polymerase chain reaction and bisulfite sequencing analyses were performed to assess methylation level of TSGs in CD patients. RESULTS: We found 6 TSGs (sFRP1, sFRP2, sFRP5, TFPI2, Sox17, and GATA4) are robustly hypermethylated in CD patient samples. Bisulfite sequencing analysis confirmed the methylation levels of the sFRP1, sFRP2, sFRP5, TFPI2, Sox17, and GATA4 promoters in the representative CD patient samples. CONCLUSIONS: In this study, the promoter hypermethylation of the TSGs observed indicates that CD exhibits specific DNA methylation signatures with potential clinical applications for the noninvasive diagnosis of IBD and the prognosis for patients with IBD.

NOL4 is Downregulated and Hyper-Methylated in Papillary Thyroid Carcinoma Suggesting Its Role as a Tumor Suppressor Gene.

BACKGROUND: Thyroid cancer is the fourth most common cancer in the world. Papillary thyroid carcinoma (PTC) accounts for 80% of all types of thyroid neoplasm. Epigenetic alterations such as DNA methylation are known as the main cause of different types of cancers through inactivation of tumor suppressor genes. OBJECTIVES: In the present study, the expression and methylation of suggested gene namely nucleolar protein 4 (NOL4) in PTC in comparison to multi nodular goiter (MNG) have been studied. METHODS: Forty-one patients with PTC and 38 patients affected by MNG were recruited. Thyroid tissues were obtained during thyroidectomy. RNA and DNA were extracted from thyroid tissues. Quantitative RT-PCR assay was performed for determining the mRNA level of NOL4 while methylation-sensitive high resolution methylation was applied for assessing the methylation status with designing six pairs primers for six regions on gene promoter which were named from NOL4 (a) to NOL4 (f). RESULTS: Methylation assessment of 81 CpG islands in the promoter region of NOL4 gene revealed that NOL4 (f), the nearest region to the start codon, was significantly hypermethylated in PTC cases compared to MNG cases. NOL4 level in PTC cases in comparison with MNG cases were downregulated. The methylation status and mRNA level of NOL4 (f) were associated with age of diagnosis (Age of the patient at the time of diagnosis), lymph node metastasis, and advanced stages of disease. CONCLUSIONS: These data suggested an aberrant promoter hyper-methylation of NOL4 in PTC cases may be linked with its downregulation. Therefore, NOL4 gene can be proposed as a potential tumor suppressor gene in PTC tissues.

Expression of NF2 Modulates the Progression of BRAFV600E Mutated Thyroid Cancer Cells.

BACKGROUND: We previously reported the frequent neurofibromatosis 2 (NF2) gene mutations in anaplastic thyroid cancers in association with the BRAFV600E mutation. We aimed to investigate the role of NF2 in thyroid cancer with BRAF mutation. METHODS: To identify the function of NF2 in thyroid cancers, we investigated the changes in cell proliferation, colon formation, migration and invasion of thyroid cancer cells (8505C, BHT101, and KTC-1) with BRAFV600E mutation after overexpression and knock-down of NF2. We also examined how cell proliferation changed when NF2 was mutagenized. Human NF2 expression in papillary thyroid carcinoma (PTC) was analyzed using the The Cancer Genome Atlas (TCGA) data. RESULTS: First, NF2 was overexpressed in 8505C and KTC-1 cells. Compared to control, NF2 overexpressed group of both thyroid cancer cells showed significant inhibition in cell proliferation and colony formation. These results were also confirmed by cell migration and invasion assay. After knock-down of NF2 in 8505C cells, there were no significant changes in cell proliferation and colony formation, compared with the control group. However, after mutagenized S288* and Q470* sites of NF2 gene, the cell proliferation increased compared to NF2 overexpression group. In the analysis of TCGA data, the mRNA expression of NF2 was significantly decreased in PTCs with lateral cervical lymph node (LN) metastasis compared with PTCs without LN metastasis. CONCLUSION: Our study suggests that NF2 might play a role as a tumor suppressor in thyroid cancer with BRAF mutation. More studies are needed to elucidate the mechanism how NF2 acts in thyroid cancer with BRAF mutation.

Expression of NF2 Modulates the Progression of BRAFV600E Mutated Thyroid Cancer Cells

BACKGROUND: We previously reported the frequent neurofibromatosis 2 (NF2) gene mutations in anaplastic thyroid cancers in association with the BRAF V600E mutation. We aimed to investigate the role of NF2 in thyroid cancer with BRAF mutation. METHODS: To identify the function of NF2 in thyroid cancers, we investigated the changes in cell proliferation, colon formation, migration and invasion of thyroid cancer cells (8505C, BHT101, and KTC-1) with BRAF V600E mutation after overexpression and knock-down of NF2. We also examined how cell proliferation changed when NF2 was mutagenized. Human NF2 expression in papillary thyroid carcinoma (PTC) was analyzed using the The Cancer Genome Atlas (TCGA) data. RESULTS: First, NF2 was overexpressed in 8505C and KTC-1 cells. Compared to control, NF2 overexpressed group of both thyroid cancer cells showed significant inhibition in cell proliferation and colony formation. These results were also confirmed by cell migration and invasion assay. After knock-down of NF2 in 8505C cells, there were no significant changes in cell proliferation and colony formation, compared with the control group. However, after mutagenized S288* and Q470* sites of NF2 gene, the cell proliferation increased compared to NF2 overexpression group. In the analysis of TCGA data, the mRNA expression of NF2 was significantly decreased in PTCs with lateral cervical lymph node (LN) metastasis compared with PTCs without LN metastasis. CONCLUSION: Our study suggests that NF2 might play a role as a tumor suppressor in thyroid cancer with BRAF mutation. More studies are needed to elucidate the mechanism how NF2 acts in thyroid cancer with BRAF mutation.

Potential application of tumor suppressor microRNAs for targeted therapy in head and neck cancer: A mini-review.

Head and neck cancer remains a leading cause of death worldwide. Most common available treatment methods which include surgery, radiotherapy, and chemotherapy are associated with numerous side effects. MicroRNA therapeutics is an emerging form of gene therapy with potential for use in treatment of head and neck cancer. MicroRNAs are short nucleotide RNAs that target mRNAs (messenger RNA) to regulate gene expression at the post-transcription level. They may act as either tumor suppressor or oncogene in cancer. In the past, their potential use in cancer management (diagnosis, treatment, prognosis prediction), based on their deregulation have been demonstrated and written about but summaries on their application for targeted therapy are limited. This article aims at discussing the potential of some known tumor suppressor microRNAs for treatment of head and neck cancer, either alone or in combination with other treatment forms. It also aims at highlighting some obstacles against their use. The search for literature was done on PubMed using the search term: "MicroRNA based head and neck cancer treatment". Only free full text original articles on specific microRNAs and their tumor suppressive abilities in head and neck cancer, written in English language were used. Most of the studies demonstrated the ability of microRNAs to inhibit tumor growth by targeting specific oncogenes in cancer cells. Tumor suppressor microRNAs show promise for the treatment of head and neck cancer but more researches are needed to further clear areas of concern.

Aberrant DNA Methylation of Two Tumor Suppressor Genes, p14ARF and p15INK4b, after Chronic Occupational Exposure to Low Level of Benzene.

BACKGROUND: Exposure to benzene would be associated with many diseases including leukemia. Epigenetic alterations seem to be among the main mechanisms involved. OBJECTIVE: To determine if chronic occupational exposure to low level of benzene would be associated with DNA methylation. METHODS: Global DNA methylation and promoter-specific methylation of the two tumor suppressor genes, p14ARF and p15INK4b, were assessed employing methylation-specific PCR using the DNA extracted from 40 petrochemical workers exposed to ambient benzene levels of <1 ppm, and 31 office workers not exposed to benzene or its derivatives. RESULTS: While an increase in global DNA methylation of 5% in p14ARF (p=0.501) and 28% in p15INK4b (p=0.02) genes was observed in the exposed group, no hypermethylation in either of the studied genes was observed in the unexposed group. No significant association was found between the frequency of aberrant methylation and either of age, work experience, and smoking habit in the exposed group. CONCLUSION: Chronic occupational exposure to lower than the permissible exposure limit of benzene may still result in DNA methylation of tumor suppressor genes that may ultimately lead to development of cancer.

Effect of microRNA-134-5p targeting EGFR on growth of ovarian cancer SKOV3 and A2780 cells / 重庆医学

Objective To investigate the effect of microRNA-134-5p (miR-134-5p) targeting epidermal growth factor receptor (EGFR) on the growth of ovarian cancer cells.Methods The ovarian cancer cell lines SKOV3 and A2780 served as the study objects and were divided into the control group (transfecting miR-NC) and experimental group (transfecting miR-134-5p) according to the treatment method.The expression levels of EGFR gene and downstream target protein were detected by qRT-PCR and western blot.The cell cycle distribution and apoptosis were detected by flow cytometry.The proliferation ability of ovarian cancer cells was detected by MTT assay and colony forming assay.Results The expressions of EGFR and downstream target protein in the experimental group were significantly down-regulated.EGFR mRNA in SKOV3 cells was downregulated to 48％ (P＜0.05),and EGFR mRNA in A2780 cells was down-regulated to 47％ (P＜0.05).The cell cycle of cells in the experimental group was significantly inhibited (P＜0.05),and miR-134-5p induced apoptosis through the EGFR target protein (P＜0.05).The proliferation activity and colony forming ability of the experimental group were significantly inhibited (P＜0.05).Conclusion miR-134-5p could promote the cellular cycle arrest and apoptosis,and reduces the proliferation ability of ovarian cancer cells by targetedly inhibiting the EGFR gene.

Mechanism underlying the inhibitory effect of overexpression of tumor suppressor gene DKK3 on migration and invasion of human cutaneous malignant melanoma cells / 中华皮肤科杂志

Objective To investigate the expression of DKK3 in human cutaneous malignant melanoma cells and tissues,and to evaluate the effect of transfection with DKK3 gene on migration and invasion of a malignant melanoma cell line A375.Methods Western blot analysis was performed to measure the relative expression of DKK3 in human cutaneous melanoma cell lines HM,A375,WM451,SK-MEL-1,Hs-695T,MDA-MB-435s and WM35,as well as pigmented nevus tissues.Real-time fluorescence-based quantitative PCR (RT-PCR) was conducted to determine the mRNA expression of DKK3 in 58 melanoma tissues (including primary melanoma and metastatic melanoma) and 30 pigmented nevus tissues from Chongqing Traditional Chinese Medicine Hospital between August 2014 and June 2017.The pcDNA3.1 (+)-Flag-Vector (control group) and pcDNA3.1 (+)-Flag-DKK3 (transfection group) were transfected into A375 melanoma cells separately.RT-PCR and Western blot analysis were performed to verify the overexpression of DKK3,and to evaluate the effect of DKK3 overexpression on the expression of molecules related to the migration and invasion of melanoma cells.Cell scratch assay,Transwell migration and invasion assay were conducted to assess the effect of DKK3 on the migration and invasion of A375 cells.Statistical analysis was done by a two-sample t-test for comparisons between two groups,one-way analysis of variance (ANOVA) for intergroup comparison,and least significant difference (LSD)-t test for multiple comparisons with the SPSS 13.0 software.Results DKK3 protein was absent or lowly expressed in the human melanoma cell lines,but highly expressed in the pigmented nevus tissues.There were significant differences in the mRNA expression of DKK3 among the primary melanoma tissues (2-ΔΔCt:[0.325 ± 0.150] × 10-3),metastatic melanoma tissues ([0.142 ± 0.210] × 103) and pigmented nevus tissues ([0.634 ±:0.120] × 10-3,F =46.57,P ＜ 0.05).In addition,the mRNA expression of DKK3 was significantly lower in the metastatic melanoma tissues than in the primary melanoma tissues and pigmented nevus tissues (LSD-t =2.48,3.12,both P ＜ 0.05).After transfection with DKK3,cell scratch assay showed that the migration rate was significantly lower in the transfection group (22.11％ ± 5.11％) than in the control group (54.36％ ± 23.22％,t =2.36,P ＜ 0.001).Transwell migration and invasion assay revealed that the number of A375 cells crossing the Transwell chamber was significantly lower in the transfection group (265 ± 33,76 ± 18 respectively) than in the control group (429 ± 41,135 ± 21 respectively;t =1.24,1.35 respectively,both P ＜ 0.001).After overexpression of DKK3 in the A375 cells in the transfection group,the mRNA and protein expression of E-cadherin were up-regulated,while the mRNA and protein expression of N-cadherin,vimentin,matrix metalloproteinase 2 (MMP2),MMP7 and MMP11 were down-regulated compared with the control group.Conclusions The expression of DKK3 is down-regulated in the melanoma cell lines and tissues,and the migration and invasion of A375 cells are markedly inhibited by overexpression of DKK3.DKK3 may be a target for inhibiting the metastasis of cutaneous malignant melanoma.

Potential protective role of Grainyhead-like genes in the development of clear cell renal cell carcinoma.

The involvement of Grainyhead-like (GRHL) transcription factors in various cancers is well documented. However, little is known about their role in clear cell renal cell carcinoma (ccRCC). We discovered that the expression of two of these factors-GRHL1 and GRHL2-are downregulated in ccRCC samples, and their expression is correlated with the expression of VHL gene. This suggests a functional link between the GRHL transcription factors and one of the best known tumor suppressors. Although the GRHL genes are not mutated in ccRCC, some of the single nucleotide polymorphisms in these genes may indicate an increased risk of ccRCC development and/or may allow to assess patients' prognoses and predict their responses to various forms of therapy. Silencing of GRHL2 expression in non-tumorigenic kidney cell line results in increased cell proliferation, increased resistance to apoptosis, as well as changes in the levels of selected proteins involved in the pathogenesis of ccRCC. These changes support the potential role for GRHL2 as a suppressor of ccRCC.

[Expression of large tumor suppressor homolog 2 gene and its promotor methylation in oral squamous cell carcinoma].

Objective: To investigate the expression of large tumor suppressor homolog 2 (LATS2) gene and its promotor methylation in oral squamous cell carcinoma (OSCC). Methods: Reverse transcription-PCR (RT-PCR) and pyrosequencing were used to detect the mRNA and promotor methylation of LATS2 gene in 72 OSCC specimens and normal oral mucosa tissues. Western blotting was used to detect the LATS2 protein in six OSCC specimens and normal oral mucosa tissues. Results: All cases had expression of LATS2 mRNA in normal oral mucosa tissues, but the expression was down-regulated significantly, only 47% (34/72) in 72 cases of OSCC showed LATS2 mRNA expression. The expression was correlated with the degree of tumor differentiation and lymph node metastasis (P<0.05). The results of pyrosequencing show that 68% of promotor methylation (49/72) in 72 cases of OSCC. Furthermore, there was significant correlation between the mRNA and promotor methylation of LATS2 gene (χ(2)=16.980, P<0.01). All the six specimens had the low LATS2 protein expression. Conclusions: The promotor methylation of LATS2 gene may play an important role in the occurrence of OSCC.

Expression of large tumor suppressor homolog 2 gene and its promotor methylation in oral squamous cell carcinoma / 中华口腔医学杂志

Objective@#To investigate the expression of large tumor suppressor homolog 2 (LATS2) gene and its promotor methylation in oral squamous cell carcinoma (OSCC).@*Methods@#Reverse transcription-PCR (RT-PCR) and pyrosequencing were used to detect the mRNA and promotor methylation of LATS2 gene in 72 OSCC specimens and normal oral mucosa tissues. Western blotting was used to detect the LATS2 protein in six OSCC specimens and normal oral mucosa tissues.@*Results@#All cases had expression of LATS2 mRNA in normal oral mucosa tissues, but the expression was down-regulated significantly, only 47% (34/72) in 72 cases of OSCC showed LATS2 mRNA expression. The expression was correlated with the degree of tumor differentiation and lymph node metastasis (P<0.05). The results of pyrosequencing show that 68% of promotor methylation (49/72) in 72 cases of OSCC. Furthermore, there was significant correlation between the mRNA and promotor methylation of LATS2 gene (χ2=16.980, P<0.01). All the six specimens had the low LATS2 protein expression.@*Conclusions@#The promotor methylation of LATS2 gene may play an important role in the occurrence of OSCC.

The progress of clinical precision medicine in castration-resistant prostate cancer / 天津医药

Most prostate cancer (PCa) patients in China are diagnosed at an advanced stage. Many PCa patients are initially sensitive to hormonal therapy and experience temporary tumor regression, but nearly all of the patients finally reach a state of castration-resistant prostate cancer (CRPC). CRPC is difficult to cure and thus has poor prognosis. The identification of new therapies to treat CRPC remains an urgent need. Precision medicine is to develop the most appropriate individualized treatment for each patient based on the level of individual differences. Genomic, proteomics, metabolomics data, and other big data analysis methods are the essence of precision medicine. Precision medicine brings the hope to overcome cancer. In this review, we summarize the connotation of precision medicine in CRPC, the application of second generation sequencing and genome sequencing, and clinical molecular targeted therapy of CRPC as well as discuss clinical precision medicine for CRPC.

SOX7 and its expression and function in tumors / 国际肿瘤学杂志

SOX7 belongs to the SOX gene family.And it has been shown to regulate multiple biological processes.Studies have found that SOX7 gene is likely to be a tumor suppressor gene.In many tumors,SOX7 downregulation that inhibits proliferation,migration and invation of tumor via regulating the Wnt-β-catenin signaling pathway mediated the transcription process,which plays a significant role in tumorigenesis.

Expression and clinical significance of stem cell marker Sox2 in human gastric cancer / 天津医药

Objective To detect the expression of stem cell marker Sox2 in gastric cancer (GC). Methods The mRNA and protein expressions of Sox2 in paired primary tumor tissues and their matching, adjacent non-cancerous tissues in a series of 60 cases of human GC were examined by reverse transcription-PCR (RT-PCR) and immunohistochemistry (IHC). χ2 test was used to analyze the correlation of Sox2 expression with clinicopathological parameters of GC tissues including age, gender, tumor size, histological type, TNM stage, differentiation degree, depth of invasion and lymph node metastasis. Results RT-PCR results showed that the positive rate of Sox2 expression was significantly increased in gastric tumor tissues (53.3%, 32/60) compared with that of matching, adjacent non-cancerous tissues (20.0%, 12/60, P<0.01). Semi-quantitative analysis showed that the relative intensity of Sox2 mRNA expression was significantly higher in gastric cancer tissues (0.724±0.209) than that in tissues adjacent to carcinoma (0.256±0.065,P<0.01). The positive expression of Sox2 was significantly higher in gastric tumor tissues (50.0%, 30/60) than that of matching, adjacent non-cancerous tissues (16.7%, 10/60,P<0.01). The positive expression of Sox2 was significantly higher in gastric tumor patients with TNM stage (Ⅲ+Ⅳ) than that of TNM stage (Ⅰ+Ⅱ). The positive expression of Sox2 was significantly higher in gastric tumor patients with low differentiation and undifferentiated tumor cells than that of patients with middle and high differented cells. The positive expression of Sox2 was also significantly higher in gastric tumor patients with the depth of invasion T3-T4 than that of patients with T1-T2. The positive expression of Sox2 was significantly higher in gastric tumor patients with lymph node metastasis than that of patients without lymph node metastasis (P<0.05 or P<0.01). Conclusion The elevated expression of Sox2 is associated with the initiation, invasion, progression, and metastasis of GC. Sox2 may serve as a novel diagnostic and therapeutic marker for human GC.