ObjectiveTo explore the relationship of the clinicopathological characteristics of non-small cell lung cancer (NSCLC) with the mutations of epidermal growth factor receptor (EGFR), K-ras and EML4-ALK fusion gene in cell blocks of pleural effusion (PLE). MethodsA total of 268 cytological specimens of PLE (pleural effusion), from Central Hospital of Zibo city were collected from advanced NSCLC patients between January 2012 year and June 2014 year. There were 165 male and 103 female patients at age of 53.6 (31-76) years. Qualitative diagnosis has been made in the 268 patients using PLE samples with conventional smear. Immunohistochemical staining combined with cell block section were used for further classification. There were 76 patients diagnosed as NSCLC with 39 patients of adenocarcinoma and 37 patients of squamous-cell carcinoma. In the 76 patients of lung biopsy specimens and PLE, EGFR and K-ras mutations, EML4-ALK fusions were tested. ResultsEGFR mutations rate was 34.21% (26/76). K-ras mutations rate was 6.58% (5/76). EML4-ALK fusions rate was 7.89% (6/76) at the same time. EGFR and K-ras mutations, EML4-ALK fusions were mostly found in young female adenocarcinoma patients who were non-smokers. EGFR and K-ras mutations or EML4-ALK fusions were not found in the same patient. ConclusionCytological specimens are feasible for detecting EGFR were K-ras mutations and EML4-ALK fusions. This will especially benefit to patients whose histological specimen can not be obtained.
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.
Genetic epilepsy with febrile seizures plus (GEFS+) is a new type of genetic epilepsy syndrome with a marked hereditary tendency. Febrile seizure is the most common clinical symptom, followed by febrile seizure plus, and with/without absence seizures, focal seizures, and generalized tonic-clonic seizures. Results of the polymerase chain reaction (PCR), exon sequencing and single nucleotide polymorphism (SNP) analysis showed that the occurrence of GEFS+ is mainly related to the mutation of gamma aminobutyric acid type A receptor gamma 2 subunit (GABRG2), but its pathogenesis was still unclear. The main types of GABRG2 mutations include missense mutation, nonsense mutation, frameshift mutation, point mutation and splice site mutation. All these types of mutations can reduce the function of ion channels on cell membrane, but the degree and mechanism of dysfunction are different, which may be the main mechanism of epilepsy. This article will focus on the relationship between GEFS+ and the mutation types of GABRG2 in recent years, which is of great significance for clinical accurate diagnosis, anti-epileptic treatment strategy and new drug development.
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.
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.
Lung cancer in never-smokers has been identified as a separate disease entity. Notably, the proportion of this distinct disease has been reported to increase in recent decades. Due to its occult onset and lack of clinical specificity, patients with this disease are always diagnosed with advanced stage. This review summarizes the current literatures about the risk factors, clinicopathological characteristics, molecular features, and prognosis of lung cancer in never-smokers, which will enhance our understanding and facilitate the precise management of this distinct disease.
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.
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 study the mutations at 1 573 fragment of TNF receptor II (TNFR-II) gene in patients with keloid. Methods The tissue DNA was extracted from 22 samples of keloids donated by 22 patients (6 males and 16 females, aged 18-53 years), and all keloids were examined and classified by pathologist. The peri pheral blood DNA was extracted from the same patients as the control. PCR was used to ampl ify the 1 573 fragment of TNFR-II gene from the keloid tissue DNA and peripheral blood DNA. The PCR products were sequenced directly and then compared with the GeneBankdata. Results All the concentration of the extracted DNA in trial were higher than 0.50 μg/μL and the purity (A260/A280) ofthe extracted DNA were higher than 1.5. It closed to the magnitude of the design DNA fragment by agarose gel electrophoresis examining, and corresponded with the test requirement. Mutations at 1 573 fragment of TNFR-II gene were detected in 13 out of 22 keloids. The mutation incidence was 59.1%. Among them, 9 had point mutation at codon 1 663, accounting 40.9%. No TNFR-II gene mutation was detected in all peripheral blood samples. There were significant difference between keloids DNA and peripheral blood DNA (P lt;0.01). The mutations involved point mutation, deletion and insertion as well as multisite and multitype. Conclusion There is a correlation between the mutation at 1 573 fragment of TNFR-II gene and keloid.