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Analysis Of Clinicopathologic Features,gene Mutation Characteristics And Potential Risk Factors Of Small Gastrointestinal Stromal Tumor

Posted on:2024-07-03Degree:MasterType:Thesis
Country:ChinaCandidate:F JiangFull Text:PDF
GTID:2544307175499494Subject:Clinical pathology
Abstract/Summary:PDF Full Text Request
Objective(s):1.To explore and analyze the gender,age,clinical symptoms and other clinical data of small gastrointestinal stromal tumor.2.To explore and analyze the clinicopathological features and gene mutation characteristics of small gastrointestinal stromal tumors.3.To explore and analyze the potential risk factors of small gastrointestinal stromal tumor,in order to provide possible effective reference for future clinical diagnosis and treatment.Methods:According to the inclusion criteria and exclusion criteria,48 patients with small gastrointestinal stromal tumor admitted to our hospital from January 2015 to September 2022 who met the inclusion criteria were retrospectively analyzed.The data collected included general clinical data,imaging data,pathological data,immunohistochemical data and molecular detection data.SPSS 26.0 was used to complete the correlation analysis of each factor.Graphpad Prism 9.0 was used to draw statistical maps,including ROC curve and calculate its AUC and best cut-off value,to explore the diagnostic value of each index for small gastrointestinal stromal tumors and potential risk factors.Results:1.A total of 48 patients with small gastrointestinal stromal tumor were enrolled in this study,including 20 males and 28 females.The ratio of male to female was close to 1:1.4.The median age was 63 years.The main clinical manifestations were abdominal pain(31.25%)and no obvious symptoms(25%).Among them,21 cases were complicated with malignant tumors.There were 7 cases of gastric cancer,7cases of esophageal cancer,3 cases of intestinal cancer,3 cases of ovarian cancer and1 case of endometrial cancer.The primary tumors were located in stomach(42 cases,87.5%),small intestine(4 cases),colorectum(1 case)and esophagus(1 case).2.Among the 48 patients with small gastrointestinal stromal tumors,44(91.67%)had complete endoscopic/endoscopic ultrasound data.Among the 21 patients with malignant tumors,3 had chronic inflammation,and 16 had endoscopic signs of corresponding malignant tumors.Of the 27 patients without malignancy,2had no relevant examination.Under ordinary endoscopy,the lesions were submucosal protrusions.EUS showed that the lesion originated from the muscularis propria layer and one case from the submucosa.Regular boundary was observed in 19 cases,and no cystic degeneration or hyperechogenic foci were observed.Thirty-six(75%)of 48 patients with small gastrointestinal stromal tumors had complete CT data.Among the21 patients with malignant tumors,17 had CT signs of corresponding malignant tumors.Among the 27 patients without malignant tumors,8 were not examined and 4were missed.CT scan showed regular shape and quasi-circle.Nine cases showed heterogeneous enhancement.3.Microscopically,48 cases of small gastrointestinal stromal tumors ranged in size from 0.2 cm to 1.9cm,with an average diameter of 0.94 ± 0.49 cm.Forty-six cases(95.83%)were spindle cell type,1 case was epithelial cell type,and 1 case was mixed cell type.The mitotic count was less than 5/5mm2 in 44 cases(91.67%),moderate or severe atypia in 20 cases,necrosis and calcification were detected in 6cases,respectively.The risk stratification was very low risk in 44 cases,medium risk in 3 cases and high risk in 1 case.All 48 cases of small gastrointestinal stromal tumors were positive for CD117,DOG-1 and CD34.KI-67 expression was ≤5% in46 cases.4.Genetic testing data were available in 9 cases,including 5 cases of C-KIT exon 11 mutation and 4 cases of wild type.C-KIT exon 11 mutation accounted for55.55%.Four cases had exon 11 deletion mutation and 1 case had exon 11 point mutation.C-KIT exon 11W557-K558 deletion mutation accounted for 50%.There were significant differences between the C-KIT exon 11 group and the wild type group in the presence or absence of malignant tumors and cell atypia(p<0.05),but there were no significant differences in age,gender,tumor size,tumor location,histological type,and risk grade(p>0.05).5.After excluding 21 patients with malignant tumors,27 patients were divided into medium-high risk group and low risk group.There was a significant difference in the presence or absence of imaging high-risk signs between the medium-high-risk group and the low-risk group,and it was positively correlated with risk stratification(p<0.05,r =0.590).Regular tumor boundary and homogeneous enhancement were positively correlated with risk stratification(r =0.780,r =0.590).6.There were significant differences between small gastrointestinal stromal tumors(≤1cm)and small gastrointestinal stromal tumors(1-2cm)in gender,mitotic count,risk grade,atypia,and concomitant malignant tumors(p<0.05).There was no significant difference in age,tumor location,histological type,CD117,DOG-1,CD34 and KI-67(p>0.05).Pearson correlation analysis showed a positive correlation between mitotic count and tumor size(r = 0.425).7.ROC curve analysis showed that 0.75 cm was the largest tumor diameter for predicting malignant potential,and the area under the curve(AUC)was 0.8286(95%confidence interval 0.7141-0.9430,p < 0.01).According to the cut-off value of 0.75,the patients were divided into ≤ 0.75 cm group and >0.75 cm group.The clinicopathological characteristics of the two groups were analyzed.There were significant differences in atypia and malignancy between the two groups(p<0.05),but no significant differences in age,sex,tumor location,mitotic count,risk grade,and histiocyte type(p>0.05).8.Follow-up outcomes were observed in 40 of 48 patients with small gastrointestinal stromal tumors,and 8 cases were lost to follow-up,including 13 cases with malignant tumors and 27 cases without malignant tumors.The follow-up rate of this study was 83.33%.Among the 21 patients with malignant tumors,8 cases were lost to follow-up,7 cases died(3 cases of esophageal cancer,2 cases of gastric cancer,1 case of intestinal cancer,and 1 case of ovarian cancer),and the remaining patients survived.Twenty-seven patients with small gastrointestinal stromal tumors without malignant tumors were followed up for 3-86 months,and the median recurrence-free survival time was 27 months.Only 1 case had local recurrence 21 months after operation,and no distant metastasis was observed.Overall,the prognosis of 27 patients with small gastrointestinal stromal tumors is good.The patients with high risk grade of small gastrointestinal stromal tumors have relatively short recurrence-free survival time(p<0.01).Conclusion(s):1.Small gastrointestinal stromal tumors tend to coexist with other malignant tumors of the digestive tract.2.Small gastrointestinal stromal tumors are mostly spindle cell type,and most of them show low mitotic count.3.C-KIT exon 11 is the most common type of mutation in small gastrointestinal stromal tumors.4.Irregular border and heterogeneous enhancement are important factors for predicting the risk stratification of small gastrointestinal stromal tumors.5.Tumor site,tumor size and mitotic count are important indicators to evaluate the malignant potential of small gastrointestinal stromal tumor.6.The overall prognosis of small gastrointestinal stromal tumors is good,and the biological behavior is mostly benign,but it has a certain malignant potential.
Keywords/Search Tags:Small gastrointestinal stromal tumors, Pathological features, Gene mutation, Risk factors, Prognosis
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