Graphene oxide based nano-biosensor for the detection of deletion mutation in exon 19 of EGFR gene, leading to lung cancer

2016 ◽  
Vol 183 ◽  
pp. 441-443 ◽  
Author(s):  
Bagher Eftekhari-Sis ◽  
Maryam Anvari Aliabad ◽  
Farrokh Karimi
The Analyst ◽  
2018 ◽  
Vol 143 (8) ◽  
pp. 1797-1804 ◽  
Author(s):  
Dong-Min Kim ◽  
Dong Ho Kim ◽  
Woong Jung ◽  
Kye Young Lee ◽  
Dong-Eun Kim

A sensitive fluorometric detection of EGFR exon 19 deletion mutation based on probe DNA-degrading PCR and graphene oxide.


2019 ◽  
Vol 3 (10) ◽  
pp. 1887-1891
Author(s):  
WuQiang Fan ◽  
Jason Sloane ◽  
Lisa B Nachtigall

Abstract Non–small cell lung cancer with pituitary metastasis (NSCLC-PM) is a devastating disease; however, treatment is being revolutionized by a novel therapy targeting highly specific tumor signals, such as the mutation of epidermal growth factor receptors (EGFRs). Long-term management of hormonal defects in this population has become a unique neuroendocrine clinical challenge. We report the case of a 73-year-old female nonsmoker who was diagnosed with stage IV non–small cell lung cancer. The initial staging evaluation revealed a 7 × 11 × 21-mm sellar lesion abutting the optic chiasm and causing clinical hypopituitarism. The patient received three cycles of chemotherapy with carboplatin and pemetrexed, which was discontinued because of major cumulative side effects of myelosuppression and kidney disease. Eight months later, scans demonstrated evidence of disease progression. A repeated lung nodule biopsy revealed an EGFR exon 19 deletion mutation. EGFR-targeted therapy with osimertinib 80 mg daily was initiated. A complete resolution of the pituitary lesion was evident on a follow-up pituitary MRI 5 weeks later and was sustained 1 year after. However, the panhypopituitarism persisted. This is an illustrative case of NSCLC-PM with EGFR exon 19 deletion mutation, wherein osimertinib, a third-generation EGFR‒tyrosine kinase inhibitor, eradicated the sellar metastasis and prevented the need for radiotherapy. However, the neuroendocrine deficits persisted despite anatomic improvement.


2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 7633-7633
Author(s):  
Y. Lee ◽  
B. Cho ◽  
H. Choi ◽  
J. Sohn ◽  
S. Kang ◽  
...  

7633 Background: The presence of EGFR mutations in NSCLC has strongly associated with never-smoking history. SHS exposure is associated with higher risk of lung cancer. We have conducted this study to evaluate the association between SHS exposure and likelihood of mutations in EGFR gene in NSCLC patients who had never smoked. Methods: SHS exposure information from a total of 93 never smokers (<100 lifetime cigarettes) with newly diagnosed primary NSCLC was obtained using a standardized questionnaire. Patients were asked whether they were regularly exposed to SHS at home or work places, respectively. Nucleotide sequencing of the kinase domain of EGFR (exons 18 to 21) was performed using nested PCR amplification of individual exons. Results: Patient characteristics (n=93) included median age 57 years; female (n= 81); adenocarcinoma ± bronchoalveolar carcinoma (n= 82); EGFR mutation (1 mutation in exon 18 G719, 31 in-frame deletions in exon 19, 10 mutations in codon 858 in exon 21). Fifty-two (55.9%) of the patients reported having been exposed to SHS, including 46 (49.5%) exposed at home and 13 (14.0%) exposed at work. The incidence of EGFR mutations was not associated with female gender and adenocarcinoma histology. Patients with SHS exposure showed a trend towards lower incidence of EGFR mutations (36.5% vs. 56.1%, P= 0.060) and a significantly lower incidence of deletion mutations in exon 19 (57.9% vs. 87.0%, P= 0.033). When the incidence of EGFR mutations was compared, no difference between SHS exposure at home and work places was found. No significant differences were found for other clinicopathological factors according to SHS exposure. Conclusions: Our results indicate weak evidence of relationship between likelihood of mutation in EGFR gene and SHS exposure. The deletion mutations in exon 19 were significantly less common in patients with SHS exposure. No significant financial relationships to disclose.


Author(s):  
Changlong He ◽  
Chengcheng Wei ◽  
Jun Wen ◽  
Shi Chen ◽  
Ling Chen ◽  
...  

Abstract Background By comparing the detection rate and type of targeted gene mutations in non-small cell lung cancer (NSCLC) between amplification refractory mutation system PCR (ARMS-PCR) and next-generation sequencing (NGS), the characteristics and application advantages of non-small cell lung cancer detection are explained, providing a basis for clinicians to effectively select the corresponding detection methods. Methods and materials The cases of targeted genes for lung cancer were selected from the First Affiliated Hospital of Chongqing Medical University from January 2016 to October 2020. A sample of 4467 cases was selected, and they were diagnosed with NSCLC by Pathological biopsy. Sample sources include surgical resection, bronchoscope biopsy, metastatic biopsy, blood, sputum, cytology of pleural effusion. Among them, 3665 cases were detected by ARMS-PCR technique, and 802 cases were detected by NGS technology. The detection rate and type of ARMS-PCR and NGS techniques for EGFR gene mutations (including exon 18, exon 19, exon 20, exon 21 and so on) in different NSCLC samples were compared, respectively. Results The total mutation rate of EGFR gene detected by ARMS-PCR was 47.6% while 42.4% detected by NGS which indicated that there was a significant difference between the two methods in detecting total mutation of EGFR gene (P < 0.001). In different exons, the EGFR mutation rate detected by two methods is various. The mutation rate of exon 19 by ARMS-PCR detection was evidently higher than that of NGS detection, while the mutation rate of exons 20 and 21 by ARMS-PCR detection were statistically significantly lower than that of NGS detection. Moreover, the multiple mutation rate detected by NGS was 16.3% which was much higher than the 2.7% detected by ARMS-PCR with statistically different. Conclusion It showed that NGS could direct the drug use for the resistant patients. However, some rare loci could be detected by NGS but the importance and directed meaning are still unknown and the number of rare mutations is rare too. Further research on new biomarkers and technique is still needed for early diagnosis, directing drug use and assessing the therapy prognosis.


2021 ◽  
Author(s):  
Changlong He ◽  
Chengcheng Wei ◽  
Jun Wen ◽  
Shi Chen ◽  
Ling Chen ◽  
...  

Abstract BackgroundBy comparing the detection rate and type of targeted gene mutations in non-small cell lung cancer (NSCLC) between amplification refractory mutation system PCR (ARMS-PCR) and next generation sequencing (NGS), the characteristics and application advantages of non-small cell lung cancer detection are explained, providing a basis for clinicians to effectively select the corresponding detection methods.Methods and materials The cases of targeted genes for lung cancer were selected from the First Affiliated Hospital of Chongqing Medical University from January 2016 to October 2020. A sample of 4467 cases was selected,and they were diagnosed with NSCLC by Pathological biopsy. Sample sources include surgical resection, bronchoscope biopsy, metastatic biopsy, blood, sputum, cytology of pleural effusion. Among them, 3665 cases were detected by ARMS-PCR technique, and 802 cases were detected by NGS technology. The detection rate and type of ARMS-PCR and NGS techniques for EGFR gene mutations (including exon 18, exon 19, exon 20, exon 21 and so on) in different NSCLC samples were compared respectively.ResultsThe total mutation rate of EGFR gene detected by ARMS-PCR was 47.6% while 42.4% detected by NGS which indicated that there was a significant difference between the two methods in detecting total mutation of EGFR gene (P<0.001). In different exons, the EGFR mutation rate detected by two methods is various. The mutation rate of exon 19 by ARMS-PCR detection was evidently higher than that of NGS detection, while the mutation rate of exon 20 and 21 by ARMS-PCR detection were statistically significantly lower than that of NGS detection. Moreover, the multiple mutation rate detected by NGS was 16.3% which was much higher than the 2.7% detected by ARMS-PCR with statistically different. ConclusionsIt showed that NGS could direct the drug use for the resistant patients. However, some rare loci could be detected by NGS but the importance and directed meaning are still unknown and the number of rare mutations is rare too. Further research on new biomarkers and technique is still needed for early diagnosis, directing drug use and assessing the therapy prognosis.


2021 ◽  
Author(s):  
Kai Song ◽  
Xiaojing Ma ◽  
Jinghong Xu ◽  
Lirong Chen

Abstract Background: Extraosseous benign notochordal cell tumor is extremely rare, and there are only five reported cases worldwide. The presented case of pulmonary primary benign notochordal cell tumor is the sixth case, but the first to report the deletion mutation of EGFR gene exon 19. Case presentation: The patient was a 50-year-old asymptomatic woman, who had been followed up for 3 years for a nodule in the right lung. Six months after the wedge resection, the patient is alive without evidence recurrence or metastasis. The tumor was 7 millimeters in diameter and was well demarcated. The tumor was consisted of a sheet of large round vacuolated cells with small and bland nuclei. No connective tissue containing blood vessels or inflammatory cell infiltration was detected in the stroma. The tumor were positive for CK AE1/AE3, Vimentin, S100 and Brachyury. Deletion mutation of EGFR gene exon 19 was first detected and reported. Conclusions: We firstly reported the EGFR mutation of pulmonary primary benign notochordal cell tumor. Due to the rarity of this tumor, more reports are need to explore pathological characteristics, especially the molecular characteristics, in order to better understand the nature of tumors


2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 7544-7544 ◽  
Author(s):  
Y. Yamane ◽  
K. Goto ◽  
H. Kenmotsu ◽  
Y. Ohe ◽  
H. Ohmatsu ◽  
...  
Keyword(s):  

2021 ◽  
Author(s):  
Changlong He ◽  
Chengcheng Wei ◽  
Jun Wen ◽  
Shi Chen ◽  
Ling Chen ◽  
...  

Abstract BackgroundBy comparing the detection rate and type of targeted gene mutations in non-small cell lung cancer (NSCLC) between amplification refractory mutation system PCR (ARMS-PCR) and next generation sequencing (NGS), the characteristics and application advantages of non-small cell lung cancer detection are explained, providing a basis for clinicians to effectively select the corresponding detection methods.Methods and materials The cases of targeted genes for lung cancer were selected from the First Affiliated Hospital of Chongqing Medical University from January 2016 to October 2020. A sample of 4467 cases was selected,and they were diagnosed with NSCLC by Pathological biopsy. Sample sources include surgical resection, bronchoscope biopsy, metastatic biopsy, blood, sputum, cytology of pleural effusion. Among them, 3665 cases were detected by ARMS-PCR technique, and 802 cases were detected by NGS technology. The detection rate and type of ARMS-PCR and NGS techniques for EGFR gene mutations (including exon 18, exon 19, exon 20, exon 21 and so on) in different NSCLC samples were compared respectively.ResultsThe total mutation rate of EGFR gene detected by ARMS-PCR was 47.6% while 42.4% detected by NGS which indicated that there was a significant difference between the two methods in detecting total mutation of EGFR gene (P<0.001). In different exons, the EGFR mutation rate detected by two methods is various. The mutation rate of exon 19 by ARMS-PCR detection was evidently higher than that of NGS detection, while the mutation rate of exon 20 and 21 by ARMS-PCR detection were statistically significantly lower than that of NGS detection. Moreover, the multiple mutation rate detected by NGS was 16.3% which was much higher than the 2.7% detected by ARMS-PCR with statistically different. ConclusionsIt showed that NGS could direct the drug use for the resistant patients. However, some rare loci could be detected by NGS but the importance and directed meaning are still unknown and the number of rare mutations is rare too. Further research on new biomarkers and technique is still needed for early diagnosis, directing drug use and assessing the therapy prognosis.


2021 ◽  
pp. 107815522110191
Author(s):  
Pinar Gursoy

Introduction Most patients with non-small-cell lung cancer tumors that have epidermal growth factor receptor (EGFR) mutations have deletion mutations in exon 19 or exon 21, or both.In recent years, targeted therapies in lung cancer have increased survival, but the development of resistance to these drugs poses a major problem. Thesubstitution of methionineforthreonine at position 790 (T790M) mutation,is primarily responsible for this resistance. However, after osimertinib used in T790M positivepatients treatment options are generally limited to chemotherapy. Case report We reported the efficacy of erlotinib, which we reapplied due to the disappearance of the resistance mutation after osimertinib in a 68-year-old patient using osimertinib after erlotinib. Management and outcome: In the patient using erlotinib due to exon 19 deletion when progression was observed and T790M positivity was detected, osimertinib treatment was initiated. However, when T790M was found to be negative with rebiopsy in progression after osimertinib, a complete response was achieved by restarting erlotinib. Discussion The strategy of restarting erlotinib treatment with negative T790M mutation detected in biopsies of patients with osimertinib resistance may be an acceptable treatment option.


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