scholarly journals TP53 and NRAS are the Most Frequently Mutated Genes in Stool DNA of CRC Patients from Central Part of Iran

Author(s):  
Farideh Saberi ◽  
Virinder Sarhadi ◽  
Omar Youssef ◽  
Arto Kokkola ◽  
Pauli Puolakkainen ◽  
...  

Abstract Colorectal cancer (CRC) rated among the three most diagnosed cancers and the fourth main cause of death worldwide. CRC is a curable cancer provided to be diagnosed at its early-stage. Colonoscopy, stool and blood-based tests are in use for CRC diagnosis/screening. Due to low patient compliance, low specificity and high rate of false results, more reliable methods with desired level of detection accuracy and high patients’ compliance are highly demanded. Detecting hotspot mutations in stool DNA emerged as a robust noninvasive alternative, but due to the different genetic background of various populations and hence varied mutation spectrum/prevalence, prior assessment of CRC mutations in the population is essential. Here, we have evaluated stool DNAs from CRC patients and controls using a NGS based 22 genes panel. Hotspot mutations in NRAS, FGFR3, SMAD4 and TP53 genes had higher prevalence among the CRC patients compare to normal controls. Patients were followed up in their post-surgical period. Six of them (12%) with TP53 mutations (2 patients had NRAS mutation as well) were died of cancer. Those harboring mutations in TP53 and/or NRAS would be regarded as high risk and should be provided with special care.

2020 ◽  
Vol 19 ◽  
pp. 153303382092097
Author(s):  
Ling-Yu Chu ◽  
Dong-Ming Guo ◽  
Jun-Tian Chen ◽  
Wang-Kai Fang ◽  
Jian-Jun Xie ◽  
...  

Objective: Colorectal cancer is one of the most important malignant cancer in the world with high incidence and mortality. Some studies have found that the expression of low serum L1 cell adhesion molecule is associated with poor prognosis in some malignancies. It is suggested that L1 cell adhesion molecule is a candidate serum marker for certain tumors. However, the relationship between serum L1 cell adhesion molecule and colorectal cancer, especially about the diagnostic value, is rarely reported. Therefore, this study aimed to evaluate the diagnostic potential of serum L1 cell adhesion molecule in patients with colorectal cancer. Methods: Enzyme-linked immunosorbent assay was carried out to detect L1 cell adhesion molecule level in sera of 229 patients with colorectal cancer and 145 normal controls. Receiver operating characteristic curves were employed to calculate the accuracy of diagnosis. Results: The levels of serum L1 cell adhesion molecule in the colorectal cancer group were significantly lower than that in normal controls ( P < .05). In the normal group, the area under the receiver operating characteristic curve (area under the curve) of all colorectal cancer was 0.781 (95% confidence interval: 0.734-0.828) and early-stage colorectal cancer was 0.764 (95% confidence interval: 0.705-0.823). With optimized cutoff of 17.760 ng/mL, L1 cell adhesion molecule showed certain diagnostic value with specificity of 90.3% and sensitivities of 43.2% and 36.2% in colorectal cancer and early-stage colorectal cancer, respectively. Clinical data analysis showed that the levels of L1 cell adhesion molecule were significantly correlated with gender ( P < .05) and early and late stages ( P < .05). Furthermore, when compared with carcinoembryonic antigen, serum L1 cell adhesion molecule had significantly improved diagnostic accuracy for both colorectal cancer and early-stage colorectal cancer. Conclusions: Our study demonstrated that serum L1 cell adhesion molecule might be served as a potential biomarker for the diagnosis of colorectal cancer.


2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Jianping Wang ◽  
Side Liu ◽  
Hui Wang ◽  
Lei Zheng ◽  
Changchun Zhou ◽  
...  

Abstract Background and Aims Stool DNA testing is an emerging and attractive option for colorectal cancer (CRC) screening. We previously evaluated the feasibility of a stool DNA (sDNA) test of methylated SDC2 for CRC detection. The aim of this study was to assess its performance in a multicenter clinical trial setting. Methods Each participant was required to undergo a sDNA test and a reference colonoscopy. The sDNA test consists of quantitative assessment of methylation status of SDC2 promoter. Results of real-time quantitative methylation-specific PCR were dichotomized as positive and negative, and the main evaluation indexes were sensitivity, specificity, and kappa value. All sDNA tests were performed and analyzed independently of colonoscopy. Results Among the 1110 participants from three clinical sites analyzed, 359 and 38 were diagnosed, respectively, with CRC and advanced adenomas by colonoscopy. The sensitivity of the sDNA test was 301/359 (83.8%) for CRC, 16/38 (42.1%) for advanced adenomas, and 134/154 (87.0%) for early stage CRC (stage I–II). Detection rate did not vary significantly according to age, tumor location, differentiation, and TNM stage, except for gender. The follow-up testing of 40 postoperative patients with CRC returned negative results as their tumors had been surgically removed. The specificity of the sDNA test was 699/713 (98.0%), and unrelated cancers and diseases did not seem to interfere with the testing. The kappa value was 0.84, implying an excellent diagnostic consistency between the sDNA test and colonoscopy. Conclusion Noninvasive sDNA test using methylated SDC2 as the exclusive biomarker is a clinically viable and accurate CRC detection method. Chinese Clinical Trial Registry Chi-CTR-TRC-1900026409, retrospectively registered on October 8, 2019; http://www.chictr.org.cn/edit.aspx?pid=43888&htm=4.


2019 ◽  
Vol 20 (14) ◽  
pp. 1486-1495 ◽  
Author(s):  
Seyed Mostafa Parizadeh ◽  
Reza Jafarzadeh-Esfehani ◽  
Maryam Ghandehari ◽  
Afsaneh Rezaei-Kalat ◽  
Seyed Mohammad Reza Parizadeh ◽  
...  

Colorectal cancer (CRC) is one of the most common cancers globally and is associated with a high rate of morbidity and mortality. A large proportion of patients with early stage CRC, who undergo conventional treatments develop local recurrence or distant metastasis and in this group of advanced disease, the survival rate is low. Furthermore there is often a poor response and/or toxicity associated with chemotherapy and chemo-resistance may limit continuing conventional treatment alone. Choosing novel and targeted therapeutic approaches based on clinicopathological and molecular features of tumors in combination with conventional therapeutic approach could be used to eradicate residual micrometastasis and therefore improve patient prognosis and also be used preventively. Peptide- based vaccination therapy is one class of cancer treatment that could be used to induce tumorspecific immune responses, through the recognition of specific antigen-derived peptides in tumor cells, and this has emerged as a promising anti-cancer therapeutic strategy. The aim of this review was to summarize the main findings of recent studies in exciting field of peptide-based vaccination therapy in CRC patients as a novel therapeutic approach in the treatment of CRC.


Lung Cancer ◽  
2015 ◽  
Vol 90 (1) ◽  
pp. 78-84 ◽  
Author(s):  
Shu Xia ◽  
Chiang-Ching Huang ◽  
Min Le ◽  
Rachel Dittmar ◽  
Meijun Du ◽  
...  

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Fan Yu ◽  
Xiaolu Liu ◽  
Qiong Yang ◽  
Yu Fu ◽  
Dongsheng Fan

Abstract Acute ischemic stroke (AIS) has a high risk of recurrence, particularly in the early stage. The purpose of this study was to assess the frequency and risk factors of in-hospital recurrence in patients with AIS in China. A retrospective analysis was performed of all of the patients with new-onset AIS who were hospitalized in the past three years. Recurrence was defined as a new stroke event, with an interval between the primary and recurrent events greater than 24 hours; other potential causes of neurological deterioration were excluded. The risk factors for recurrence were analyzed using univariate and logistic regression analyses. A total of 1,021 patients were included in this study with a median length of stay of 14 days (interquartile range,11–18). In-hospital recurrence occurred in 58 cases (5.68%), primarily during the first five days of hospitalization. In-hospital recurrence significantly prolonged the hospital stay (P < 0.001), and the in-hospital mortality was also significantly increased (P = 0.006). The independent risk factors for in-hospital recurrence included large artery atherosclerosis, urinary or respiratory infection and abnormal blood glucose, whereas recurrence was less likely to occur in the patients with aphasia. Our study showed that the patients with AIS had a high rate of in-hospital recurrence, and the recurrence mainly occurred in the first five days of the hospital stay. In-hospital recurrence resulted in a prolonged hospital stay and a higher in-hospital mortality rate.


2018 ◽  
Vol 29 ◽  
pp. viii33-viii34
Author(s):  
E. Letellier ◽  
M. Schmitz ◽  
A. Ginolhac ◽  
E. Koncina ◽  
M. Marchese ◽  
...  

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