Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features
Objective: To investigate the relationship between genetic characteristics of pivotal driver genes and clinicopathological features in pancreatic ductal adenocarcinoma(PDAC). Methods: Mutations in related genes in 269 PDAC patients were detected with targeted sequencing, and the relationship between...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Diagnostics Concepts & Practice
2022-10-01
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| Series: | Zhenduanxue lilun yu shijian |
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| Online Access: | https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1674993665306-660271298.pdf |
| _version_ | 1811175574018719744 |
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| author | XIE Wen, LIANG Huaiyu, DONG Lei, YUAN Fei, WANG Chaofu, GUO Yan |
| author_facet | XIE Wen, LIANG Huaiyu, DONG Lei, YUAN Fei, WANG Chaofu, GUO Yan |
| author_sort | XIE Wen, LIANG Huaiyu, DONG Lei, YUAN Fei, WANG Chaofu, GUO Yan |
| collection | DOAJ |
| description | Objective: To investigate the relationship between genetic characteristics of pivotal driver genes and clinicopathological features in pancreatic ductal adenocarcinoma(PDAC). Methods: Mutations in related genes in 269 PDAC patients were detected with targeted sequencing, and the relationship between the genetic status of pivotal driver genes (KRAS、TP53、SMAD4 and CDKN2A) and clinicopathological features (including age, tumor differentiation, and prognosis, etc) were analyzed. Results: Among 269 patients, KRAS, TP53, SMAD4 and CDKN2A mutations were identified in 222 cases (82.53%), 148 cases (55.02%), 41 cases (15.24%) and 30 cases (11.15%) respectively. KRAS mutations were missense mutations, of which 94.59% occurred in codon 12 of exon 2 and 5.41% in codon 61 in exon 3. KRAS mutation might be correlated with age, with a mutation rate of 80.09% in patients younger than 70 years old and 93.75% in patients older than 70 years old (P<0.05); TP53 mutation was correlated with the tumor differentiation, with a mutation rate of 52.52% in well/moderately differentiated patients and 74.19% in poorly differentiated patients (P<0.05); SMAD4 or CDKN2A mutations were not significantly associated with the clinicopathological features. Univariate and multivariate analysis showed that TP53 mutation was an independent risk factor for prognosis of PDAC patients. Conclusions: The genetic status of KRAS and TP53 genes are accociated with the age and tumor differentiation respectively, and TP53 mutation can be used as a reference index to predict the prognosis of PDAC patients. |
| first_indexed | 2024-04-10T19:37:57Z |
| format | Article |
| id | doaj.art-ab903de281504a6e9eb47d54bb19d4a8 |
| institution | Directory Open Access Journal |
| issn | 1671-2870 |
| language | zho |
| last_indexed | 2024-04-10T19:37:57Z |
| publishDate | 2022-10-01 |
| publisher | Editorial Office of Journal of Diagnostics Concepts & Practice |
| record_format | Article |
| series | Zhenduanxue lilun yu shijian |
| spelling | doaj.art-ab903de281504a6e9eb47d54bb19d4a82023-01-30T01:10:41ZzhoEditorial Office of Journal of Diagnostics Concepts & PracticeZhenduanxue lilun yu shijian1671-28702022-10-01210558158710.16150/j.1671-2870.2022.05.006Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic featuresXIE Wen, LIANG Huaiyu, DONG Lei, YUAN Fei, WANG Chaofu, GUO Yan0Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, ChinaObjective: To investigate the relationship between genetic characteristics of pivotal driver genes and clinicopathological features in pancreatic ductal adenocarcinoma(PDAC). Methods: Mutations in related genes in 269 PDAC patients were detected with targeted sequencing, and the relationship between the genetic status of pivotal driver genes (KRAS、TP53、SMAD4 and CDKN2A) and clinicopathological features (including age, tumor differentiation, and prognosis, etc) were analyzed. Results: Among 269 patients, KRAS, TP53, SMAD4 and CDKN2A mutations were identified in 222 cases (82.53%), 148 cases (55.02%), 41 cases (15.24%) and 30 cases (11.15%) respectively. KRAS mutations were missense mutations, of which 94.59% occurred in codon 12 of exon 2 and 5.41% in codon 61 in exon 3. KRAS mutation might be correlated with age, with a mutation rate of 80.09% in patients younger than 70 years old and 93.75% in patients older than 70 years old (P<0.05); TP53 mutation was correlated with the tumor differentiation, with a mutation rate of 52.52% in well/moderately differentiated patients and 74.19% in poorly differentiated patients (P<0.05); SMAD4 or CDKN2A mutations were not significantly associated with the clinicopathological features. Univariate and multivariate analysis showed that TP53 mutation was an independent risk factor for prognosis of PDAC patients. Conclusions: The genetic status of KRAS and TP53 genes are accociated with the age and tumor differentiation respectively, and TP53 mutation can be used as a reference index to predict the prognosis of PDAC patients.https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1674993665306-660271298.pdf|pancreatic ductal adenocarcinoma|driver gene|clinicopathological feature|prognosis |
| spellingShingle | XIE Wen, LIANG Huaiyu, DONG Lei, YUAN Fei, WANG Chaofu, GUO Yan Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features Zhenduanxue lilun yu shijian |pancreatic ductal adenocarcinoma|driver gene|clinicopathological feature|prognosis |
| title | Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| title_full | Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| title_fullStr | Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| title_full_unstemmed | Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| title_short | Analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| title_sort | analysis of genetic status of pivotal driver genes in pancreatic ductal adenocarcinoma and their correlation with clinicopathologic features |
| topic | |pancreatic ductal adenocarcinoma|driver gene|clinicopathological feature|prognosis |
| url | https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1674993665306-660271298.pdf |
| work_keys_str_mv | AT xiewenlianghuaiyudongleiyuanfeiwangchaofuguoyan analysisofgeneticstatusofpivotaldrivergenesinpancreaticductaladenocarcinomaandtheircorrelationwithclinicopathologicfeatures |