1.Detection of KRAS mutation in pancreatic cancer and colorectal cancer patients with highly sensitivite COLD-PCR
Shaorong YU ; Zhibo HOU ; Chao CHEN ; Li XIE ; Lixia YU ; Xiaoping QIAN ; Baorui LIU
Chinese Journal of Laboratory Medicine 2010;33(12):1181-1184
Objective To evaluate the significance of COLD-PCR in detecting KRAS mutation of pancreatic cancer and colorectal cancer patients. Methods First, set up COLD-PCR and compared the sensitivities of COLD-PCR/Sanger sequencing with PCR/Sanger sequencing using mixed cell lines ( KRAS wild-type cell line SW116 and KRAS mutant cell line SW480).Then, detected KRAS mutation of 20 formalin-fixed paraffin-embedded samples of pancreatic cancer and 39 formalin-fixed paraffin-embedded samples of colorectal cancer using PCR/Sanger sequencing and COLD-PCR/Sanger sequencing, respectively and compared the coincidence rate and consistency. Results The low detection limits of PCR/Sanger respectively. KRAS frequency detected by COLD-PCR/Sanger sequencing [75% (15/20)] in 20 cases of pancreatic cancer was higher than that detected by regular PCR/Sanger sequencing [40% ( 8/20 ) ,x2 =5.013, P < 0.05]. KRAS frequency detected by COLD-PCR/Sanger sequencing [44% (17/39)] in 39 cases of colorectal cancer was higher than that detected by regular PCR/Sanger sequencing [31% (12/39) ,x2 =1. 372, P = 0. 174]. The coincidence rate of these two methods was 0. 730 and the difference had no statistical significance. The coincidence rate of detecting KRAS mutation was 65% in pancreatic cancer and the results showed a good correlation between two methods and the two methods had bad agreement in diagnosis (Kappa = 0. 364, P < 0. 05 ). COLD-PCR/Sanger sequencing could detect more cases of KRAS mutations from pancreatic caner than regular PCR/Sanger sequencing. This was because there were many non-tumor cells in pancreatic tumor tissue and COLD-PCR/Sanger sequencing was more sensitive than regular PCR/Sanger sequencing. The coincidence rate of detecting KRAS mutations was 87% in colorectal cancer and the results were showed a good correlation between two methods and the two methods had substantical agreement in diagonsis ( Kappa = 0. 730, P < 0. 05 ) . Conclusion COLD-PCR/Sanger sequencing is highly sensitive to screen KRAS mutation in pancreatic cancer and colorectal cancer patients.
2.Value of ultrasound in the diagnosis of intraneural perineurioma
Tiezheng WANG ; Hengtao QI ; Zhibo LIU ; Zhidian HOU ; Yeting WANG ; Wen CHEN ; Jianbo TENG
Chinese Journal of Ultrasonography 2023;32(7):627-630
Objective:To investigate the value of ultrasound in the diagnosis of intraneural perineurioma.Methods:From June 2015 to June 2022, 11 patients with intraneural perineurioma confirmed by surgery or biopsy in Provincial Hospital Affiliated to Shandong First Medical University were retrospectively collected, all of whom underwent high-frequency ultrasound examination. Clinical data and sonographic characteristics were collected. The maximum cross-sectional area of the affected nerve was recorded and compared with the corresponding site of the contralateral nerve.Results:All the 11 cases of intraneural perineurioma were single neuropathy. The sonogram showed that the affected nerve was spindle shaped and thickened. There was a statistical difference between the maximum cross-sectional area of the thickened intraneural perineurioma and the corresponding site of the contralateral nerve [(0.158±0.043)cm vs (0.044±0.012)cm, t=8.669, P<0.001]. The fascicles of the affected nerve were thickened with loss of normal fascicular definition, but there were still hyperechoic linear separation among the fascicles. Conclusions:High-frequency ultrasound may be a valuable technique for the diagnosis of intraneural perineurioma.
3.Research on medical radioisotope production technology by medium and high-energy cyclotron and solid target
Tianjue ZHANG ; Kai WEN ; Jingyuan LIU ; Li HUO ; Chengwei MA ; Junyi CHEN ; Jiantao BA ; Xianlu JIA ; Guofang SONG ; Haiqiong ZHANG ; Sumin WEI ; Lei WANG ; Suping ZHANG ; Shigang HOU ; He ZHANG ; Jingfeng WANG ; Lei CAO ; Guang YANG ; Zhibo LIU
Chinese Journal of Nuclear Medicine and Molecular Imaging 2022;42(6):340-346
In this paper, the domestic and international demand and development trend of clinical diagnostic radionuclides are analyzed, and the medium and high-energy cyclotrons, adequate and systematic facilities, and preparation techniques required for the production of medical radionuclides based on solid targets are introduced. This paper focuses on the research and development carried out by some important medical institutions and scientific research institutes in China over the years in the aspects of medium and high-energy cyclotrons, beam transmission lines, high-power irradiation target stations and new medical isotope production processes etc. It also looks forward to some new directions for the development of medical radionuclides in China during the 14th Five-Year Plan period.
4.Gene-gene/gene-environment interaction of transforming growth factor-β signaling pathway and the risk of non-syndromic oral clefts
Tianjiao HOU ; Zhibo ZHOU ; Zhuqing WANG ; Mengying WANG ; Siyue WANG ; Hexiang PENG ; Huangda GUO ; Yixin LI ; Hanyu ZHANG ; Xueying QIN ; Yiqun WU ; Hongchen ZHENG ; Jing LI ; Tao WU ; Hongping ZHU
Journal of Peking University(Health Sciences) 2024;56(3):384-389
Objective:To explore the association between polymorphisms of transforming growth factor-β(TGF-β)signaling pathway and non-syndromic cleft lip with or without cleft palate(NSCL/P)among Asian populations,while considering gene-gene interaction and gene-environment interaction.Methods:A total of 1 038 Asian NSCL/P case-parent trios were ascertained from an international consortium,which conducted a genome-wide association study using a case-parent trio design to investigate the genes affec-ting risk to NSCL/P.After stringent quality control measures,343 single nucleotide polymorphism(SNP)spanning across 10 pivotal genes in the TGF-β signaling pathway were selected from the original genome-wide association study(GWAS)dataset for further analysis.The transmission disequilibrium test(TDT)was used to test for SNP effects.The conditional Logistic regression models were used to test for gene-gene interaction and gene-environment interaction.Environmental factors collected for the study in-cluded smoking during pregnancy,passive smoking during pregnancy,alcohol intake during pregnancy,and vitamin use during pregnancy.Due to the low rates of exposure to smoking during pregnancy and al-cohol consumption during pregnancy(<3%),only the interaction between maternal smoking during pregnancy and multivitamin supplementation during pregnancy was analyzed.The threshold for statistical significance was rigorously set at P=1.46 × 10-4,applying Bonferroni correction to account for multiple testing.Results:A total of 23 SNPs in 4 genes yielded nominal association with NSCL/P(P<0.05),but none of these associations was statistically significant after Bonferroni's multiple test correction.How-ever,there were 6 pairs of SNPs rs4939874(SMAD2)and rs1864615(TGFBR2),rs2796813(TGFB2)and rs2132298(TGFBR2),rs4147358(SMAD3)and rs1346907(TGFBR2),rs4939874(SMAD2)and rs1019855(TGFBR2),rs4939874(SMAD2)and rs12490466(TGFBR2),rs2009112(TGFB2)and rs4075748(TGFBR2)showed statistically significant SNP-SNP interaction(P<1.46 × 10-4).In contrast,the analysis of gene-environment interactions did not yield any significant results after being cor-rected by multiple testing.Conclusion:The comprehensive evaluation of SNP associations and interac-tions within the TGF-β signaling pathway did not yield any direct associations with NSCL/P risk in Asian populations.However,the significant gene-gene interactions identified suggest that the genetic architec-ture influencing NSCL/P risk may involve interactions between genes within the TGF-β signaling path-way.These findings underscore the necessity for further investigations to unravel these results and further explore the underlying biological mechanisms.