<p>Mutational Characterization and Potential Prognostic Biomarkers of Chinese Patients with Esophageal Squamous Cell Carcinoma</p>

Abstract

Purpose Esophageal squamous cell carcinoma (ESCC) is the most common type of esophageal cancer in China and the 5-year mortality rate is up to 70%. Studies on the ESCC genetic landscape are needed to further explore clinical therapeutic strategies. In this study, we evaluated the genetic landscape of ESCC to aid the search for clinical therapeutic strategies. Patients and Methods A total of 225 ESCC patients were enrolled in this study. Deep sequencing of 450 cancer genes was performed on formalin-fixed paraffin-embedded tumor biopsies and matched blood samples from patients. Tumor mutational burden (TMB) was calculated using an algorithm developed in-house. Results Our results showed that the most commonly mutated genes in ESCC were TP53 (96%), CCND1 (46%), FGF4 (44%), FGF19 (44%), FGF3 (44%), CDKN2A (31%), PIK3CA (26%), NOTCH1 (24%), KMT2D (18%), FAT1 (16%), and LRP1B (16%). We found that TMB correlated with patient drinking status. We identified mutations associated with sex, early ESCC, high TMB, and metastasis lymph nodes. KMT2D mutations associated with sex ( P = 0.035), tumor stage ( P = 0.016), high TMB ( P = 0.0072), and overall survival of patients ( P = 0.0026). SPEN mutations associated with high TMB ( P = 0.0016) and metastasis-positive lymph nodes ( P = 0.027). These results suggested that SPEN and KMT2D could be potential prognosis biomarkers for Chinese patients with ESCC. We also found that the number of positive lymph nodes was associated with disease-free survival. Clinical target gene analysis indicated that nearly half of Chinese ESCC patients might benefit from treatment with gene-specific target drugs. Conclusion Our study revealed the ESCC mutational landscape in 225 Chinese patients and uncovered the potential prognosis biomarker for Chinese patients with ESCC.

CDKN2A is a prognostic biomarker and correlated with immune infiltrates in hepatocellular carcinoma

“…There are few researches have reported CDKN2A in cervical cancer tissues was negatively correlated with serosal invasion [ 28 ]. And CDKN2A has been reported to promote the angiogenic phenotype and predict poor prognosis in esophageal squamous cell carcinoma [ 29 ]. In the present study, we systematically analyzed the expression of CDKN2A (mainly mRNA) in tumor tissues of HCC patients in TCGA and GEO databases.…”

GFI1 promotes the proliferation and migration of esophageal squamous cell carcinoma cells through the inhibition of SOCS1 expression

“…For the wound healing assay, 1x10 6 transfected cells were seeded in 6-well plates for 48 h at 37˚C. The cell monolayer was scraped using a 200-µl pipette tip when they reached 80-90% confluence, washed three times with PBS, and 2 ml RPMI-1640 medium without FBS was added.…”

“…EAc is the most common type of EScA in Western countries, whereas EScc is the most common type in china, where it accounts for >70% of cases of EScA (4,5). Although research into treatments for patients with EScc has achieved significant progress, the 5-year survival rate remains unfavorable due to the high rates of recurrence and metastasis (4,6,7). Therefore, there is an urgent need to elucidate the molecular mechanism underlying EScc progression.…”

Prognostic Implications of Six Altered Genes in Asian Non-Surgical Esophageal Carcinoma Patients Treated with Chemoradiotherapy

“…The association between gene alterations and prognosis has been indicated. 13,14 Here, we performed targeted panel sequencing of tumor tissues from 69 Asian EC patients. A TCGA cohort of 143 EC patients was also included in this study for comparison.…”