Effect of epidermal growth factor receptor gene mutation on clinical pathology and clinical effect of tyrosine kinase inhibitor in non-small cell lung cancer / 实用医学杂志

Objective To explore the effect of epidermal growth factor receptor (EGFR) gene mutation on clinical pathology of non-small cell lung cancer (NSCLC) and clinical efficacy of tyrosine kinase inhibitor (TKI) treatment. Methods 460 NSCLC patients who were treated in our hospital from January 2017 to December 2017 were selected in this study. Based on types of mutations, they were divided into mutant positive group (129 cases) and mutant negative group (331 cases). The mutant positive group was further divided into TKI target treatment group (72 cases) and chemotherapy group (57 cases). All patients in the mutant negative group received chemotherapy (331 cases) treatment. Finally, the relationship between the EGFR gene mutation and clinical pathology was analyzed, and the progression-free survival (PFS) among groups of TKI therapy, chemotherapy of mutant positive group and chemotherapy of mutant negative group was compared. Results (1) It was found that the mutation of EGFR gene in NSCLC patients was closely related to the sex, smoking, pathological type, degree of differentiation, and serum carcinoembryonic antigen (CEA) level (P < 0.05). (2) The ORR and DCR in patients treated with TKI were significantly higher than those in other patients with positive gene mutation (P < 0.05). (3) The ORR and DCR in the EGFR mutant negative group were significantly higher than those in the EGFR mutant positive group (P < 0.05). (4) The PFS were significantly different among all groups (P<0.05) : (201.65±20.81) d in TKI group; (116.53 ± 11.61) d in chemotherapy of mutant positive group and (167.59 ± 11.46) d in mutant negative group. Conclusions The mutation of EGFR gene in NSCLC patients occurs more frequently in women, nonsmokers, adenocarcinoma, and those whose serum CEA ≥ 5 ng/mL.TKI therapy can effectively prolong the PFS in patients with EGFR positive mutation. However, it's more effective to use chemotherapy for patients without EGFR positive mutation.

Construction of EGFR gene G719S and T790M mutation vector and preliminary clinical application / 临床检验杂志

Objective To construct mutant recombinant vector of epidermal growth factor receptor ( EGFR) gene G719S and T790M sites associated with cervical cancer, lay the foundation for the detection of EGFR gene mutation in cervical cancer. And using it to es-tablish a molecular switch platform to detect cervical cancer EGFR gene mutations. Methods Using the wild-type recombinant plasmid as template, the mutant fusion target fragment were amplified by overlap PCR, then connect this target fragment into the vector pMD19-T. The constructed mutant recombinant plasmid was finally transformed into competent cells E.coli DH5αfurther identified by PCR with bacterial solution and genome sequencing. Establishing the molecular switch for the detection of clinical cervical cancer samples. Re-sults The G719S and T790M mutations were successfully certified by genome sequencing, and the site-directed mutant vector was successfully constructed. In addition, a molecular switch detection platform was also successfully established for the detection of cervical cancer tissue DNA. Conclusion We successfully constructed an EGFR gene mutant recombinant vector by overlap PCR technique, which providing a new technical means for gene site-directed mutagenesis. And the molecular switch detection platform was successfully established based on it, which furnishing a new method for clinical detection of EGFR gene mutations.

Relationship between the epidermal growth factor receptor gene mutation and malignant pulmonary focal ground-glass lesion / 中国胸心血管外科临床杂志

@#Objective    To analyze the relationship between the epidermal growth factor receptor(EGFR) gene mutation and malignant pulmonary focal ground-glass lesion (fGGL). Methods    We retrospectively collected the clinical data of 86 patients with surgical treatment in the department of cardiothoracic surgery of Changzheng Hospital from August 2012 to February 2015. There were 26 males and 60 females with a mean age of 56.14±10.55 years. We analyzed the relationship between the EGFR gene mutation and the related clinical data. Results    Postoperative pathology showed atypical adenomatous hyperplasia (AAH) combined with focal adenocarcinoma in situ (AIS) or AIS in 10 patients, minimally invasive adenocarcinoma (MIA) in 15, and lepidic predominant adenocarcinoma (LPA) in 61. The EGFR gene mutation reports showed the exon 19 19-del mutation in 14 patients, exon 21 L858R mutation in 27, and exon 21 L861Q mutation in 2. There was no difference between the mutation of EGFR gene and clinical factors except age and smoking (P>0.05). Till June 30, 2015, all patients were alive and follow-up was 440.48±186.61 days. Conclusion    The EGFR gene in patients with malignant pulmonary fGGL shows a higher mutation rate, which provides important clinical reference data for the basic research and the clinical treatment.

EGFR mutations detection in non-small cell lung cancer liquid based cytology samples by ARMS method / 临床与实验病理学杂志

Purpose To explore the application and characteristics of liquid-based cytology samples of non-small cell lung cancer for detection of EGFR mutations by ARMS method.Methods The positive samples of liquid-based cytology were collected and the DNA of samples was extracted to detect the EGFR mutations by ARMS method and the analyze the association with clinical features,types of samples,pathological types and the contents of tumor cells,etc.Results There were 117 genetic mutations detected in 279 liquid-based cytology specimens,with the mutation rate of 41.9％.The mutation rate of adencarcinoma was 44.7％ and the other was 11.3％.When the tumor ceils in cytology samples were abundant,medium,small clusters and few,EGFR gene mutation rate were 53％,44％,45％ and 44％ respectively.19Del was 51.9％.Exon 21L858R missense mutation occurred at 39.4％ of EGFR mutations.Conclusion All liquid-based cytology of non-small cell lung cancer samples are adequate for EGFR mutation analysis.In the tumor cell-rich samples EGFR gene mutation rate is higher than that of the less tumor cells samples.19Del is the most common type of EGFR mutations.

Research of exons 19 and 21 mutations of epidermal growth factor receptor gene in 109 cases of lung adenocarcinoma in Yancheng area / 国际检验医学杂志

Objective To investigate the 19 and 21 exon mutation status of the epidermal growth factor receptor(EGFR) gene in the patients with lung adenocarcinoma and its distribution differences among different groups .Methods The related samples in 109 cases of lung adenocarcinoma were collected in our hospital during 2013-2014 .The 19 and 21 exons of EGFR gene were detected by adopting the ARMS‐PCR method .Results Among 119 cases ,19 and 21 exons mutations were found in 56 cases(51 .38% ) ,in which 24 cases (22 .02% ) were in exon 19 and 33 cases (30 .28% ) were in exon 21 .59 cases were male with 19 cases(32 .20% ) of mutant type and 50 cases were female with 37 cases (74 .00% ) of mutant type;64 cases were ≥ 60 years old with 34 cases (53 .13% ) of mutant type ,45 cases were <60 years old with 22 cases(48 .89% ) of mutant type;33 male cases were smoking with 7 cases(21 .21% ) of mutant type and 25 male cases were non‐smoking with 12 cases (48 .00% ) of mutant type .Conclusion The 19 and 21 exon mutation rate of EGFR gene in the patients with lung adenocarcinoma is higher in this area ,the 21 exon mutation rate is slightly higher than that of 19 exon;the mutation type and mutation rate are correlated with sex and smoking history ,but have no correlation with age .

Relationship between serum carcinoembryonic antigen and EGFR mutation in recurrent non-small cell lung cancer / 实用医学杂志

Objective To investigate the relationship of epidermal growth factor receptor (EGFR) mutation with clinical features of baselines as well as serum CEA level in patients with recurrent non-small cell lung cancer (NSCLC). Methods A total of 54 patients with first recurrence of advanced lung cancer who had received chemotherapy were included in this study. ADx-ARMS was performed to detect EGFR gene mutations in surgical specimens taken from the primary tumor. Serum CEA level was measured by the electrochemical luminescence method. Results The mutation rate of EGFR was significantly higher in females than in males (χ2= 11.868, P =0.006), with a total mutation rate of 60.8%in 106 patients. The rate was higher in adenocarcinoma than in other histological types(χ2=6.002,P=0.014), and significantly higher in non-smokers than in smokers (χ2= 8.502,P=0.004) and in the patients with serum CEA level over or equal to 5.0 ng/mL than those with CEA level less than 5.0 ng/mL (χ2=22.543,P=0.000). A multivariate analysis revealed that a higher serum CEA level at the time of disease recurrence was associated with EGFR gene mutations (P = 0.002). Conculsions Serum CEA level is closely associated with the presence of EGFR gene mutations in patients with first recurrence of advanced NSCLC. A higher serum CEA level at the time of disease recurrence is independently associated with EGFR gene mutations. CEA level can be used as a potential indicator to determine EGFR mutation.

Mutational Analysis of the Epidermal Growth Factor Receptor Gene in Gastrointestinal Stromal Tumors

PUPOSE: Most gastrointestinal stromal tumors (GISTs) have gain-of-function mutations of the KIT or the platelet-derived growth factor receptor alpha (PDGFRA) genes, but approximately 10% of the GISTs are wild types for both the KIT and the PDGFRA genes. The purpose of this study was to investigate the possibility that epidermal growth factor receptor (EGFR) gene mutation might be responsible for the pathogenesis of GIST. MATERIALS AND METHODS: We analyzed the EGFR gene in 60 GISTs for the detection of somatic mutations by using the polymerase chain reaction (PCR), the single strand conformation polymorphism (SSCP), and DNA sequencing in exon 18, 19, and 21 encoding the kinase domain. RESULTS: The SSCP analysis revealed no evidence of EGFR mutations in exon 18, 19, and 21 in GISTs. CONCLUSION: The data indicate that the EGFR gene may not be mutated in human GIST and suggest that therapies targeting the mutated EGFR gene products might not be useful in the treatment of GISTs.

Increased expression of the epidermal growth factor receptor gene in psoriasis / 대한피부과학회지

Psoriasis is characterized by disregulation of keratinocyte growth with profound epidermal hyperplasia. Keratinocyte hyperplasia in psoriasis may be expained in part by overproduction of growth factor, and by altered metabolism of the epidemal growth factor receptors (EGFR) in affected skin. The expression of epidermal growth f ictor receptor was investigated by Northern blot and slot-blot analysis of total RNA extrated from biopsies of normal skin and psoriatic lesions. In Northern blot analysis, EGFR-specific mRNA transcripts from psoriatic tissues demonstrated the specificity of hybridizarion with a EGFR mDNA probe. The size of EGFR mRNA transcript was 6.7kb in psoriasis lesions which showed no change of quality. In slot-blot analysis, the levels of EGFR mRNA in poriasis revealed a 1.2 fold to 4.1 fold elevation when compared to normal skin. EGFR were present in all epidermal layers by immunoperoxidase staining, whereas in normal skin they were primarily present in the stratum basalis. These results indicate that the increased expresion of the EGFR gene may be, in part, responsible for the hyperproliferation of the epider nis and that retained EGFR may reflect incomplet; abnormal differentiation in active porasis. This altered process of EGFR metabolism may be involved in the pathogenesis of psoriasis.