scholarly journals Genetic Alterations of Esophageal Squamous Cell Carcinoma in Korean Patients

2021 ◽  
Author(s):  
Sunggyun Park ◽  
Dongju Won ◽  
Dae Joon Kim ◽  
Seong Yong Park ◽  
Seung-Tae Lee
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Small Sample ◽  
Smoking History ◽  
Base Substitution ◽  
Esophageal Mucosa ◽  
Sequencing Analysis

Abstract Background: Esophageal squamous cell carcinoma (ESCC) is one of the deadliest cancers in Korea, although its incidence is lower in Korea than in China and Japan. There are no data on genetic alterations associated with ESCC in Korea. Our study is the first report of the mutational landscape of ESCC in a Korean cohort.Methods: We performed whole exome sequencing analysis of 43 ESCC tumor samples and germline DNA from normal esophageal mucosa or whole blood. Using electronic medical records, the patients’ clinical characteristics were reviewed carefully.Results: We found a mutually exclusive mutation pattern in NFE2L2–ZNF750 gene pairs. Non-silent variants of KMT2D (MLL2) were associated with a poor prognosis. An analysis to identify potentially druggable genes revealed NOTCH1 as a potential therapeutic target. We observed a high frequency of C:G → T:A transitions regardless of smoking history. In our cohort, deconstruction of the mutation signature revealed enrichment of COSMIC single base substitution (SBS) 13, SBS 39, SBS 2, SBS 40, and SBS 1.Conclusion: We did not find a Korean-specific signature of genetic alterations, but our data suggest that KMT2D is a molecular prognostic marker. Further studies need to examine the role of KMT2D in ESCC prognosis due to our small sample size.

PS02.048: DECREASED EXPRESSION OF PRSS27 IN ESOPHAGEAL SQUAMOUS CELL CARCINOMA

2018 ◽  
Vol 31 (Supplement_1) ◽  
pp. 134-134
Author(s):  
Masayoshi Terayama ◽  
Teruki Hagiwara ◽  
Kazuhiko Yamada ◽  
Daisuke Soma ◽  
Kyoko Nohara ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Clinical Features ◽  
Squamous Cell ◽  
Cell Layer ◽  
Normal Mucosa ◽  
Esophageal Mucosa ◽  
Gene And Protein Expression ◽  
Significant Difference

Abstract Background Alcohol drinking and smoking are substantial risk factors of esophageal squamous cell carcinoma (ESCC) and are supposed to induce genetic mutations and epigenetic disorders, including aberrant DNA methylation. Previously, we have conducted transcriptome and methylome analyses of a paired specimen of ESCC and adjacent non-cancerous tissues and found that both gene expression and promotor methylation of PRSS27 were perturbed in ESCC. PRSS27 was a trypsin-like serine protease (also known as marapsin) and expressed in normal esophagus; however, little is known about the significance of PRSS27 expression in ESCC. In this study, we evaluated the expression of PRSS27 in many ESCC cases in relation with clinical features and the prognosis. Methods ESCC tissue specimens were obtained from 80 patients who had undergone esophagectomy between April 2008 and December 2016 in our hospital and were subjected to immunostaining for PRSS27. ESCC cases were classified into PRSS27-negative and PRSS27-positive groups and difference of clinical features and the prognosis between the groups was analyzed. Results The mRNA expression of PRSS27 was significantly decreased in ESCC compared with those in matched normal mucosa (P < 0.0001). Histologically, PRSS27 was highly expressed in spinous cells of suprabasal cell layer but not in basal cell layer of normal esophageal mucosa. In contrast, 37 of 80 (47%) ESCC exhibited decreased intensity of PRSS27 staining when compared with that in normal mucosa, and 53% (43/80) of ESCC showed almost no staining of PRSS27. Although the prognosis of PRSS27-positive cases were worse in trend than that of PRSS27-negative cases, there was no significant difference (P = 0.0763) Conclusion PRSS27 gene and protein expression was both downregulated in ESCC; its functional significance in relation to malignancy is underinvestigation. Disclosure All authors have declared no conflicts of interest.

scholarly journals HPV Infection and its Relationship with Expression of PIK3CA, PIK3CB in Esophageal Squamous Cells Carcinoma

2021 ◽  
Author(s):  
Feifei Wen ◽  
Yangyang Li ◽  
Shuang He ◽  
Xiaoyang Xu ◽  
Ningjie Guo ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Hpv Infection ◽  
Tumor Location ◽  
Esophageal Mucosa ◽  
Squamous Cells ◽  
Hpv Status

Abstract Background: Esophageal squamous cell carcinoma (ESCC) is a highly lethal cancer. Human papillomavirus (HPV) is currently considered as a potential risk factor for ESCC, but this assumption is still contradictory. P16INK4a (p16) staining can be used as an alternative marker of HPV oncogene activity. This study was to investigate the role of HPV in esophageal cancer and to compare the relationship between HPV status and PIK3CA, PIK3CB. Methods: Immunohistochemistry, Western blot, and RT-PCR analyses were performed to detect the expression of p16, PIK3CA, PIK3CB and p53 in 156 cases of esophageal squamous cell carcinoma. The patients were followed up by telephone or clinic. Results: The positive rates of p16, PIK3CA, PIK3CB and p53 in esophageal squamous cell carcinoma were significantly higher than those in normal esophageal mucosa. The overexpression of p16 was closely related to tumor location, TNM stage, differentiation and lymph node metastasis. In addition, the expression of p16 was positively correlated with the expression of PIK3CA, but not with the expression of PIK3CB and p53. Survival analysis showed that p16 was a good prognostic marker, while PIK3CA and p53 were poor prognostic markers. Conclusions: HPV infection is associated with ESCC. The imbalance of PI3K/Akt signaling pathway is closely related to HPV infection and prognosis. Detection of p16 and PIK3CA is of great significance in evaluating the prognosis and optimizing the treatment of esophageal squamous cell carcinoma.

scholarly journals Expressions of HPV 16-E6 in esophageal carcinoma and it's clinical significance

2015 ◽  
Vol 6 (6) ◽  
pp. 39-42
Author(s):  
Xing Zhao ◽  
Rajina Sahi ◽  
Yu-Yang Zhao ◽  
Jun Wang ◽  
Chun- Hui Li
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Esophageal Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Immunohistochemical Method ◽  
Esophageal Mucosa ◽  
Medical Sciences ◽  
Hpv 16 ◽  
Hpv16 E6

Aim: To explore the association between HPV16-E6 protein and esophageal squamous cell carcinoma.Materials and Methods: SP immunohistochemical method was used to examine the expression of HPV 16-E6 in 50 cases of esophageal squamous cell carcinoma, 10 cases of normal esophageal squamous cell and 10 cases of adjacent tissue.Results: The expressions of HPV 16-E6 was significantly higher in esophageal carcinoma than in normal esophageal mucosa and in adjacent tissue. The expressions of HPV 16-E6 had correlation with invasive depth (P<0.05), but not with patient age, lymph node metastasis, tumor size (P>0.05).Conclusion: HPV 16-E6 can promote the growth and metastasis of esophageal squamous cell carcinoma and can be a prognostic factor of esophageal squamous cell carcinoma.  DOI: http://dx.doi.org/10.3126/ajms.v6i6.12537 Asian Journal of Medical Sciences Vol.6(6) 2015 39-42

scholarly journals Molecular aspects of esophageal squamous cell carcinoma carcinogenesis

2003 ◽  
Vol 40 (4) ◽  
pp. 256-261 ◽  
Author(s):  
Dárcio Matenhauer Lehrbach ◽  
Marcelo Eidi Nita ◽  
Ivan Cecconello
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Current Knowledge ◽  
Genetic Alterations ◽  
Tumor Control ◽  
Genetic Profile ◽  
Esophageal Tumor ◽  
Cell Hyperplasia

BACKGROUND: The development of human esophageal cancer is a multistep, progressive process. An early indicator of this process is an increased proliferation of esophageal epithelial cells morphologically including basal cell hyperplasia, dysplasia, carcinoma in situ and advanced esophageal squamous cell carcinoma. The process of tumorigenesis at cellular level is related to disorders of the control of cell proliferation and differentiation and controlled cell death (apoptosis). Most of cancer cells contain genetic alterations related to the control of these processes, including transcription factors and apoptosis related proteins. AIM: In this review, the current knowledge of the genetic profile of this subtype of esophageal tumor is discussed, focusing on the potential of the development of novel tools for clinical management of esophageal squamous cell carcinoma. CONCLUSIONS: The advances in the field of molecular biology have let us to deeper our knowledge of the process of carcinogenesis of esophagus. Ideally, this knowledge should be translated in benefits for patients suffering from cancer. Thus, better understanding of molecular alterations during carcinogenesis is expected to improve tumor control and prevention and also may lead to better disease management.

Novel genomic prognostic factors for nonsurgical esophageal squamous cell carcinoma treated with concurrent chemoradiotherapy.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15589-e15589
Author(s):  
Honghai Dai ◽  
Yang Shao ◽  
Xiaoling Tong ◽  
Xue Wu ◽  
Jiaohui Pang ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Prognostic Factors ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Genetic Alterations ◽  
Disease Stage ◽  
Free Survival ◽  
Male Patients ◽  
The Impact

e15589 Background: Definitive concurrent chemoradiation therapy (dCRT) is the standard treatment for patients with nonsurgical esophageal squamous cell carcinoma (ESCC), yet patients demonstrated great variations in responses and post-treatment progression inevitably. Methods: To identify prognostic factors that could assist in clinical judgment and make predictions ahead of disease relapse, we performed a targeted next generation sequencing of 416 cancer-related genes on primary tumor biopsies from 47 ESCC patients with locally advanced or metastatic nonsurgical diseases. Patients were subjected to dCRT treatment and local recurrence free survival (LRFS), progression free survival (PFS) and overall survival (OS) times were analyzed. Results: TP53 (78%), NOTCH1 (32%), ARID1A (13%), FAT1 (13%) and CDKN2A (13%) are the most commonly mutated genes in ESCC, while copy number gains are frequently occurred in MCL1 (36%), FGF19 (34%), MYC (32%), CCND1 (27%), ZNF217 (15%), CDKN2A (13%) and YAP1 (11%). Multivariate analysis including clinical variables (age, gender and disease stage) and individual genetic alterations suggested that gender is an independent prognostic factor and male tend to have longer LRFS, PFS and OS after dCRT treatment. In addition, YAP1 amplification likely increased the risk of disease progression and death. To remove the impact of gender on prognosis, gender stratified survival analysis was performed and found that male patients with YAP1 amplification had significantly shorter LRFS (p = 0.002) and OS (p = 0.03), and also demonstrated a certain trend toward a shorter PFS (p = 0.06) than male patients without YAP1 amplification. Conclusions: YAP1 amplification might be a potentially useful biomarker in predicting treatment outcomes and selecting patients with high relapse risk for closely monitoring.

Early Esophageal Squamous Cell Carcinoma and Precancerous Lesions can be Detected by white Light Endoscopy with the Aid of White Substance

2020 ◽  
Author(s):  
Yingbang Wang ◽  
Guodong Yang ◽  
Xiaoying Zhang ◽  
Xiaoming Zhang ◽  
Linyi Wu ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Precancerous Lesions ◽  
Diagnostic Value ◽  
Esophageal Mucosa ◽  
Neoplastic Lesions ◽  
The Difference ◽  
White Substance

Abstract Previous studies have shown that the presence of white substance on the esophageal mucosa is associated with tumor lesions of the flat esophageal mucosa. Since the early lesions of esophageal mucosa are mostly flat, we reasoned that the white substance might also be indicative of early esophageal squamous cell carcinoma and precancerous lesions. Objective: To investigate the diagnostic value of white substance in the detection of flat esophageal mucosal lesions and precancerous lesions associated with early esophageal squamous cell carcinoma Methods: Clinical and pathological data of patients diagnosed with flat esophageal mucosal disease were collected. The lesions were divided into a neoplastic group and a non-neoplastic group, and the clinicopathological differences between the groups were analyzed. The patients were also divided into two groups based on the presence of white substance after endoscopic examination: a “white substance” group and a “non-white substance” group. The differences between the two groups were analyzed. The diagnostic value of white substance for detection of early esophageal squamous cell carcinoma and related precancerous lesions was calculated and the pathological nature of white substance inferred. Results: In total, 183 patients with flat esophageal mucosal lesions were enrolled, including 92 (50.3%) with neoplastic lesions and 91 (49.7%) with non-neoplastic lesions. Forty-nine cases (26.8%) presented white substance in the esophageal mucosa. White substance was mainly found in female patients (57.1%), middle esophagus (75.5%), and 60-69-year-old patients (51.0%). Moreover, white substance was more frequently found in neoplastic than in non-neoplastic lesions (43.5% vs. 11.0%, p < 0.05). Consistently, neoplastic lesions were more represented in the white substance group than in the non-white substance group and the difference was statistically significant (79.6 vs. 20.4%, p < 0.05). 51% of the patients in the white substance group, but only 26.1% of those in the non-white substance group, had hyperkeratosis and necrosis, and the difference was statistically significant (p < 0.05). The diagnostic sensitivity of white substance for detection of early esophageal squamous cell carcinoma and precancerous lesions was 42.4% (95% CI, 32.8%–52.6%),the specificity 89.0% (95% CI, 80.8%–94.1%).Conclusions: White substance in the mucosa of flat esophageal lesions exhibited high specificity for the diagnosis of early esophageal squamous cell carcinoma and precancerous lesions. Thus, the presence of white substance in the esophageal mucosa, even in the absence of obvious lesions, may reflect the presence of latent early esophageal squamous cell carcinoma and precancerous lesions. White substance was associated with hyperkeratosis and necrosis.

scholarly journals Comparative Study on the Esophageal Microflora of Different Tissue Types in Patients With Esophageal Squamous Cell Carcinoma

2021 ◽  
Author(s):  
Xiaobo liu ◽  
Ziye Gao ◽  
Wen Xu ◽  
JianChao Meng ◽  
Chuantao Sun ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Hypervariable Region ◽  
Illumina Miseq ◽  
Cancer Tissue ◽  
Esophageal Mucosa ◽  
Group A ◽  
Group B

Abstract Objective: This study aimed to compare the differences in microbiota between the postoperative tissues and esophageal mucosa tissues of patients with esophageal squamous cell carcinoma (ESCC). Methods: Seventy-two patients who had ESCC and diagnosed in Taihe Hospital were selected from July 2018 to July 2019 to participate in this work. Then, 27 postoperative tissues and 45 mucosa samples of ESCC were collected. The sequence V4 hypervariable region was amplified, and Illumina MiSeq sequencing was performed to analyze the differences between the two groups. Results: Results revealed that the Shannon and Chao1 indices of the postoperative esophageal cancer tissue group (Group A) were significantly higher (P<0.05) than those of the esophageal mucosa group (Group B). The Simpson index of Group A was higher than that of Group B, but the difference was not significant (P>0.05). The beta diversity of the two groups was also not significantly different (P>0.05). LEfSe analysis showed that the abundance of Megasphaera, Actinobacteria, Enterobacteriaceae, and Enterobacteriales in Group A was significantly higher than that in Group B, but the abundance of Mogibacteriaceae in Group B was significantly higher than that in Group A (P<0.05). At the phylum level, Actinobacteria and Verrucomicrobiae were more abundant in the postoperative tissue group than in the esophageal mucosa group. The abundance of Fusobacteriia, SR1, and Spirochaetes in the postoperative tissue group was significantly lower than that of the esophageal mucosa group(P<0.05). Conclusion: The source of the sample should be considered in studies on the esophageal flora. More relevant findings were obtained from postoperative tissues than from the normal mucosa.

scholarly journals Expressions of HPV 16-E6 in Esophageal Carcinoma and its Clinical Significance

2015 ◽  
Vol 10 (4) ◽  
pp. 1-5
Author(s):  
Xing Zhao ◽  
Rajina Sahi ◽  
Yu-Yang Zhao ◽  
Ju Wang ◽  
Chun-Hui Li
Keyword(s):  
Squamous Cell Carcinoma ◽  
Esophageal Squamous Cell Carcinoma ◽  
Esophageal Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Immunohistochemical Method ◽  
Anatomical Location ◽  
Esophageal Mucosa ◽  
Hpv 16 ◽  
E6 Protein

Background and Objective: The role of (Human Papilloma Virus) HPV in cancer of certain anatomical location, such as cervix, has been widely recognized. The present study was conducted to explore the association between HPV 16-E6 protein and esophageal squamous cell carcinoma.Methods: SP immunohistochemical method was used to examine the expression of HPV 16-E6 in 50 cases of esophageal squamous cell carcinoma, 10 cases of normal esophageal squamous cell and 10 cases of adjacent tissue.Results: The expression of HPV 16-E6 was significantly higher in esophageal carcinoma than in normal esophageal mucosa and in adjacent tissue. The expressions of HPV 16-E6 had significant correlation with invasive depth (P<0.05), but not with patient age, lymph node metastasis, tumor size (P>0.05).Conclusion: HPV 16-E6 can promote the growth and metastasis of esophageal squamous cell carcinoma and can be a prognostic factor of esophageal squamous cell carcinoma.JCMS Nepal 2014; 10(4):1-5 

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