The loss of heterozygosity and mutation for nm23-H1 gene in colorectal carcinomas were studied by Southern blot and RT-PCR-SSCP/silver staining sequencing. The rate of loss of heterozygosity for nm23-H1 was 29.63%. The cases of Duke’s stage D and distant metastatsis had higher frequency of the loss of heterozygosity. No mutation for nm23-H1 was found in colorectal carcinomas. These reaults indicate that the loss of heterozygosity for nm23-H1 may play a significant role in the malignant progression and distant metastasis in colorectal carcinomas.
Objective To investigate the feature of c-kit gene mutation in gastrointestinal stromal tumor （GIST） and its correlation with clinicolpathology， molecular targeted therapy，and prognosis. Methods The related literatures about the molecular genetic mechanism of GIST were reviewed. Results The c-kit gene mutation， which is prevalent in GIST， may be the early genomic events， and they are not the independent prognostic factor. However， different molecular subtype as a new indicator to regulate biological behaviors and assess prognosis of GIST is still controversial. Conclusions The study of genotype in GIST has advanced our understanding of pathogenesis， evaluating the prognosis and conducting treatment optimization. However， subsequent work remains to be done.
ObjectiveTo explore the correlation between expression of thyroid transcription factor-1 (TTF-1) and gene mutation of epidermal growth factor receptor (EGFR) in patients with resectable lung adenocarcinoma (LAC). Method Sixty-seven LAC patients who underwent surgical resection in the Department of Cardiothoracic Surgery of Shanghai No.6 Hospital and Department of Thoracic Surgery, Renji Hospital, School of Medicine of Shanghai Jiaotong University from June 2009 to December 2012 were enrolled in this study. There were 40 male and 27 female patients with their age of 37-79 (56.7±1.8) years. TTF-1 expression was detected by immunohistochemistry. EGFR gene mutation was examined with mutant-enriched polymerase chain reaction. The correlation between TTF-1 expression and EGFR gene mutation was analyzed with corrected chi-square test. ResultsAmong the 67 LAC samples, 57 samples were TTF-1 positive and 10 samples were TTF-1 negative. There was EGFR gene mutation in 44 samples. EGFR gene mutation rate was 73.7% (42/57) in TTF-1 positive patients and 20.0% (2/10) in TTF-1 negative patients. The sensitivity of TTF-1 expression to predict EGFR mutation was 95.5%, and the specificity was 34.8%. ConclusionEGFR gene mutation rate is higher in LAC patients with positive TTF-1 expression. Positive TTF-1 expression can be used to predict EGFR gene mutation in LAC patients.
ObjectiveTo investigate the relationship of concomitant BRAFV600E gene mutation with the predictive factors of papillay thyroid microcarcinoma(PTMC). MethodsBy fluorescence quantitative PCR method to detect BRAFV600E gene mutation of PTMC of 86 cases, and to detect the relationship with clinical pathological features of PTMC by single factor and multi-factor logistic regression analysis. ResultsThe morbidity of BRAFV600E gene mutation was 65.1%(56/86). By univariate analysis, BRAFV600E gene mutation status showed a related trend with lymph node metastasis(P=0.057). The multivariate analysis showwd that lymph node metastasis was correlated with BRAF V600E gene mutation(P < 0.05). When the diameter of tumor > 5 mm and≤10mm, BRAFV600E gene mutation was no statistically significantly related to central lymph node metastasis(P > 0.05). When BRAFV600E gene mutations was negative in patients with tumor diameter≤5 mm, no lymph node metastasis sample appeared. ConclusionsThe presence of BRAFV600E gene mutation is an independent predictive factor for central lymph node metastasis. When PTC with preoperative BRAFV600E gene mutation positive, the central neck dissection should be routine performed. There should be re-examined the necessity of preventative central lymph node disection when the tumor diameter is 5 mm or less with the patients which mutation negative.
ObjectiveTo observe the mutation and expression of Nkx2.5 in congenital heart disease patients with diminutive pulmonary blood. We preliminarily explored the association between Nkx2.5 gene and pathogenesis of congenital heart disease patients with diminutive pulmonary blood. MethodsFifty six patients of congenital heart disease with diminutive pulmonary blood in the first affiliated hospital of Bengbu medical college and Anhui province children, s hospital between May 2012 and May 2014 were as an experimental group. Sixty three patients of ventricular septal defect were as a control group. In the trial group, there were 30 males and 26 females averagely aged 5.82± 4.23 years ranking from 6 months to 14 years. In the control group, there were 36 males and 27 females averagely aged 6.93± 4.56 years ranking from 6 months to 14 years. Before operation, peripheral venous blood of all the patients were collected. We used polymerase chain reaction combined with DNA sequencing technology to detect Nkx2.5 gene exon sequence and to analyze the association between Nkx2.5 gene mutation and congenital heart disease with diminutive pulmonary blood. And we got some hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5× 0.5× 0.5 cubic centimeter. And we extracted myocardial tissue RNA. The expression changes of Nkx2.5 gene mRNA were detected by real-time fluorescence quantitative polymerase chain reaction technique. ResultsThere was no mutations tested out in the peripheral venous blood in both two groups. The expression of mRNA in Nkx2.5 gene of the trial group was lower than that in the control group with a statistical difference. ConclusionNkx2.5 gene mutation may be associated with multiple factors. The occurrence of congenital heart disease with diminutive pulmonary blood may be related with a decline of Nkx2.5 gene expression in the myocardial tissue.
Objective To study the basic and clinical achievements in diagnosis and therapy of hereditary pancreatitis. Methods Related literatures of recent years were reviewed. Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80%, and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer.Conclusion The progress has been made on hereditary pancreatitis and has given us many useful suggestions for a better understanding about this difficult medical problem.
Objective To detect gene mutations of Fas gene death domain （exons 7-9） in 2 Chinese keloid pedigrees and to investigatethe significance of Fas gene mutations in the keloid formation.Methods The samples were selected from keloid pedigrees A and B in 2005. The polymerase chainreaction and DNA sequencing analysis technique were used to detect the sequenceof exons 7-9 of Fas gene from keloid tissues of 2 male patients in pedigree A,their peripheral vein blood and their surrounding normal skin served as their own contrast, their spouses’ peripheral vein blood served as normal contrast, the peripheral vein blood of 2 patients in pedigree B served as a contrast between different keloid pedigrees.Results No gene mutations and single nucleotidepolymorphism in Fas gene exons 7, 8 were found in all samples from pedigrees A and B. But point mutations and single nucleotide polymorphism in Fas gene exon 9were identified in 11 bp and 53 bpin 2 keloid tissue samples from Chinese keloid pedigree A.Conclusion Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.
ObjectiveTo explore the action of dominant-negative effect on mutant insulin gene-induced diabetes.Methods293T cells were transfected with a recombinant plasmid containing mutant preproinsulinogen complementary DNA (cDNA) and a recombinant plasmid containing human wild-type preproinsulinogen cDNA. There were 5 mutant groups which mutant preproinsulins respectively bear substitutions V(A3)L, C(A7)Y, R(SP6)H, G(B8)S or G(C28)R. Wild-type mouse preproinsulin and wild-type human preproinsulin were co-transfected as normal control group. After 48 hours, medium and cells were collected. Human proinsulin were detected by human-specific proinsulin radioimmunoassay.ResultsCompared with the control group [(135.84±1.89) pmol/L], human proinsulin levels in medium of C(A7)Y group [(29.28±6.85) pmol/L] and G(B8)S group[(33.62±10.52) pmol/L] decreased significantly (P<0.01). There was no significant difference in human proinsulin level between the other groups and the control group (P>0.05).ConclusionMutants C(A7)Y and G(B8)S induce the dominant-negative effect on co-existing wild-type proinsulin.
Systemic therapy is the main treatment for advanced non-small cell lung cancer, but the effect of chemotherapy alone is not good. In recent years, with the discovery of the pathogenic targets of non-small cell lung cancer, new treatment methods such as targeted drugs and immune checkpoint inhibitors are available, which greatly improve the survival time and quality of life of patients with advanced non-small cell lung cancer. Genetic testing is recommended for all patients with advanced non-small cells lung cancer to obtain more precise and individualized treatment. This article focuses on different types of gene mutations and the corresponding molecular targeted drugs in advanced non-small cell lung cancer, in order to better guide clinical treatment.
Objective To investigate K-ras gene exon 2 codon 12 and 13 mutations， and analyze the clinical significance in the Uyghur and Han patients with rectal cancer. Methods A total of 144 surgical specimens taken from patients with rectal cancer who were treated in this hospital from January 2010 to December 2011 were used in this study. DNA was picked up from the tumor tissues and amplificated by PCR then direct sequencing.Results The K-ras gene muta-tion rate was 22.22% （32/144）， which was 26.09% （12/46） and 20.41% （20/98） in the Uyghur and Han patients， respec-tively， the difference was not statically significant （P＞0.05）. The K-ras gene mutation was related to the depth of invasion（T1＋T2：25.0%， T3＋T4：75.0%， P=0.01）， which was not related to the nation， gender， location of tumor， differen-tiation degree， or lymph node metastasis （P＞0.05）. Conclusions K-ras gene mutation is a common event in the Uyghur and Han patients with rectal cancer， but the K-ras gene mutation rate is not significant difference between the Uyghur nationality and Han nationality， which is only related to depth of invasion.