Strong Linkage Disequilibrium and Haplotype Association of Neovascular Age-related Macular Degeneration in Indonesian Patients

@#Introduction: The aim of this study was to investigate the linkage disequilibrium (LD) and haplotype of three most associated SNP with nAMD of 80 patients in Indonesia. Methods: All patients underwent standard ophthalmic tests including fundoscopy and optical coherence tomography. Genomic DNA was extracted using commercially available DNA isolation kits. Genotyping of rs11200638, rs1061170 and del443ins54 used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. The acquired genotype data were analyzed using Haploview and R package software. Results: Linkage Disequilibrium analyses showed high LD value in the 10q26 region of 80 patients with AMD and 85 controls. The PCR-RFLP showed TTA was the most frequent haplotype while GTG was the most associated haplotype in the study sample. Conclusion: There was a high LD in the 10q26 region and strong association in GTG haplotype of Indonesian patients with AMD.

Factors affecting the elevation of inter-arm systolic blood pressure difference in a physical examination population / 中华健康管理学杂志

Objective:To analyze the related factors affecting the inter-arm systolic blood pressure difference (IASBPD) in a physical examination population.Methods:A total of 3 600 adults who underwent physical examination and completed the arteriosclerosis test in the first affiliated hospital of Anhui medical university from January 2019 to June 2021 were selected as the participants by systematic sampling method. Data on age, sex, and history of smoking, heavy drinking, hypertension, type 2 diabetes, and coronary heart disease were recorded. The height, weight, waist circumference, hip circumference, total muscle, total fat and body fat ratio were measured, and body mass index was calculated. The blood pressure of the limbs, ankle brachial index (ABI) were measured synchronously with the arteriosclerosis tester of the Chinese Academy of Sciences, and the IASBPD were calculated. According to the IASBPD value, the participants were divided into two groups: IASBPD<10 mmHg (1 mmHg=0.133 kPa) group and IASBPD≥10 mmHg group, The differences between the two groups were compared, and the related influencing factors of IASBPD were analyzed by multivariate logistic regression.Results:Weight, body mass index, waist circumference, hip circumference, systolic blood pressure, diastolic blood pressure, total muscle, total fat, body fat rate, history of hypertension, proportion of type 2 diabetes mellitus, and proportion of history of coronary heart disease in the IASBPD≥10 mmHg group was higher than that of IASBPD<10 mmHg group [(69.1±11.2) vs (65.3±10.8) kg, (25.6±3.4) vs (24.4±3.3) kg/m 2, (91.3±11.3) vs (87.8±10.6) cm, (98.5±10.4) vs (96.5±9.8) cm, (139.7±20.0) vs (129.7±17.6) mmHg, (80.3±11.6) vs (76.7±10.1) mmHg, (47.5±9.1) vs (45.3±8.8) kg, (19.4±7.0) vs (17.6±6.4) kg, (27.9%±8.5%) vs (26.8%±8.1%), 41.1% vs 29.3%, 16.6% vs 11.7%, 13.1% vs 7.3%] (all P<0.05); ABI was lower than that in IASBPD<10 mmHg group [(1.15±0.11) vs (1.20±0.09)] ( P<0.001). There were no significant differences in height, smoking history and heavy drinking history between the two groups (all P>0.05). Multivariate logistic regression analysis showed that age, systolic blood pressure, body weight and ABI were independent influencing factors of IASBPD≥10 mmHg. Age, systolic blood pressure and body weight were positively correlated with IASBPD≥10 mmHg, while ABI was negatively correlated with IASBPD≥10 mmHg. Conclusion:Increases in age, systolic blood pressure, and body weight and a decrease in ABI are important influencing factors leading to the elevation of IASBPD.

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms / 亚洲男科学杂志(英文版)

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

A Case Report of Painful Legs and Moving Toes Syndrome and Painful Arms and Moving Fingers Syndrome with Severe Blood Stasis and Panic Disorder Successfully Treated with Tokakujokito-Based Kampo Prescriptions / 日本東洋医学雑誌

The patient was a 47-year-old woman. Four years previously, she began to suffer from left lower leg pain and numbness, and involuntary movements. She received further examination in the department of neurology at other hospitals, but had an uncertain etiology and was provisionally diagnosed with restless legs syndrome. She was treated with Western medicine such as gabapentin and gabapentin enacarbil, but they were ineffective. She subsequently visited our hospital and was hospitalized. She was diagnosed with painful legs and moving toes syndrome, and painful arms and moving fingers syndrome after further examination. We prescribed tokakujokito because she had severe blood stasis and panic disorder on Kamp medical findings. As a result, her left lower leg numbness disappeared and pain was reduced. We report a case of a patient who could not be effectively treated using Western medicine and was successfully treated with tokakujokito-based Kampo prescriptions.

Analysis on specific effect of acupoints at the upper arms in treatment of scrofula and goiter / 中国针灸

Through analyzing the indication distribution of the different acupoints located at the upper limbs recorded in

Prevalence of beta thalassemia mutations in population of Gujarat using amplification-refractory mutation system–polymerase chain reaction

Background: Beta thalassemia is the most common genetic disorder in India. Its trait, coinheritance and mutations vary from mild to severe condition, resulting in thalassemia minor (heterozygous), intermediate and major depending upon many factors. The objective of this study was to find out the prevalence rate and the carrier of beta thalassemia in population of Gujarat using molecular genetic analysis of beta thalassemia patients by targeted mutation assay (ARMS-PCR).Methods: A total 105 samples for beta thalassemia were analysed for IVS 1-5 (G→C) and CD 15 (G→A) mutations. These two common mutations of thalassemia in Gujarat were carried out using amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and gel electrophoresis method.Results: A total 105 samples referred to us for molecular genetic analysis. The occurrence of positive mutations of IVS 1-5 (G→C) and CD 15 (G→A) were found in 48 and 15 samples respectively. The rest were negatives.Conclusions: Present study concludes that the prevalence rate of Beta thalassemia was widespread among the Gujarat population. The identification of IVS 1-5 (G→C) and CD 15 (G→A) mutations was carried out. The analysis revealed that, mutational patterns of IVS 1-5 (G→C) was the most frequent among other mutations in Gujarat region.

Detection of EGFR gene mutation in periphral blood of NSCLC patients in Yunnan by Super-ARMS and its clinical significance / 中国肿瘤生物治疗杂志

@#Objective: To detect the mutation of epidermal growth factor receptor (EGFR) gene in peripheral blood of non-small cell lung cancer (NSCLC) patients in Yunnan area with Super-ARMS, and to explore its correlation with clinicopathological characteristics. Methods: A total of 222 blood samples from patients with NSCLC were collected between January 2017 to December 2018 in the Molecular Diagnostic Center of Yunnan Cancer Hospital. The EGFR gene mutation in peripheral blood samples was detected by SuperARMS, and the relationship between EGFR gene mutation and clinicopathological features was analyzed. Meanwhile, the independent risk factors influencing EFGR mutation were also analyzed. Results: In the peripheral blood of 222 NSCLC patients, there were 81 cases (36.5%) with EGFR gene mutation. Among them, exon 19 deletion and L858R gene point mutation were the most common (75.3% of total mutation); female patients had a higher mutation rate than male patients (45.9% vs 27.0%); patients <60 years old had a higher incidence of mutation than patients≥60 years old (43.2% vs 28.8%) (P<0.05 or P<0.01); moreover, patients with no history of smoking, no history of radical surgery, adenocarcinoma, advanced stage and no history of chemotherapy had higher incidence of EGFR mutation (43.9% vs 21.6%, 39.2% vs 21.2%, 43.9% vs 4.8%, 39.7% vs 23.3% and 44.0% vs 23.5%) (P<0.05 or P<0.01). Multivariate logistic analysis showed that young, no smoking history, adenocarcinoma and no surgical history were independent risk factors for EGFR gene mutation (all P<0.01). Conclusion: In the peripheral blood of patients with NSCLC in Yunnan, the mutation rate of EGFR gene is higher in patients with age<60 years old, adenocarcinoma and non-smoking. Super-ARMS method is more sensitive in the detection of EGFR mutation in peripheral blood of lung cancer patients.

Propuesta de clasificación de las variaciones del músculo bíceps braquial y estudio en una muestra de población colombiana / Proposal of classification for the variations of the biceps brachii muscle and study in a sample of Colombian population

RESUMEN: Las variaciones anatómicas del músculo bíceps braquial en cuanto a la presencia de cabezas accesorias o supernumerarias pueden tener incidencia importante en los diagnósticos clínicos y radiológicos, así como en procedimientos quirúrgicos. La ausencia de una clasificación adecuada para las variaciones del músculo bíceps braquial y los hallazgos del presente estudio le permitieron a los autores presentar una propuesta de clasificación basada en el número de cabezas accesorias y en el origen de ellas. El objetivo del estudio fue determinar la frecuencia con que se presentan variaciones en el número de cabezas accesorias y proponer una clasificación para las variaciones del músculo bíceps braquial. En el estudio de tipo descriptivo, de corte transversal, se analizaron 90 brazos de 46 cadáveres colombianos. Se encontró una alta frecuencia (19,6 %) en las variaciones del músculo, 4,3 % bilateralmente y 15,2 % unilateralmente. En los 11 brazos (12,2 %) que presentaron la variación del músculo, la presencia de una sola cabeza accesoria fue la más alta (81,8 %), siendo el origen más frecuente en ellas el clasificado por los autores como 3b, 3 para la ubicación inferior medial y b para el intervalo entre la inserción del músculo coracobraquial y el origen del músculo braquial. Por lo detallado de la clasificación propuesta, se recomienda su uso cuando se reporten casos de variaciones anatómicas del músculo bíceps braquial. En los cadáveres de la población colombiana estudiados se encontró una alta frecuencia para la presencia de cabezas accesorias de este músculo, que amerita ser conocida por el personal médico.

SUMMARY: The anatomical variations of the biceps brachii muscle in relation to the number of supernumerary or accessory bellies may have important incidence in clinical and radiological diagnoses, as well as in surgical procedures. The absence of an appropriate classification for the variations that the biceps brachii muscle can present and the findings of the present study, allowed the authors to present a classification proposal based on the number of accessory bellies and their origin. The study aimed to determine with which frequency the variations in the number of accessory bellies of the biceps brachii muscle are present, and to propose a classification for these variations. In the crosssectional, descriptive study 90 arms of 46 Colombian cadavers were analyzed. A high frequency (19.6 %) in the variations of the muscle was found, 4.3 % bilaterally and 15.2 % unilaterally. In the 11 arms (12.2 %) that presented the variation, the presence of only one accessory belly was the highest frequency (81.8 %), being the most frequent origin for them the one classified by the authors as 3b, 3 for the inferomedial situation and b for the interval between the insertion of the coracobrachii muscle and the origin of the brachii muscle. Because the classification proposed is very detailed, its use is recommended whenever cases of biceps brachii muscle variations are reported. In the cadavers of the Colombian population studied, a high frequency was found for the presence of supernumerary or accessory heads of this muscle, which deserves to be known by medical professionals.

Plastome-wide comparison reveals new SNV resources for the authentication of and its corresponding medicinal slice (Huoshan Fengdou)

species and their corresponding medicinal slices have been extensively used as traditional Chinese medicine (TCM) in many Asian countries. However, it is extremely difficult to identify species based on their morphological and chemical features. In this study, the plastomes of were used as a model system to investigate the hypothesis that plastomic mutational hotspot regions could provide a useful single nucleotide variants (SNVs) resource for authentication studies. We surveyed the plastomes of 17 species, including the newly sequenced plastome of . A total of 19 SNVs that could be used for the authentication of were detected. On the basis of this comprehensive comparison, we identified the four most informative hotspot regions in the plastome that encompass to , to , to and to . Furthermore, to established a simple and accurate method for the authentication of and its medicinal slices, a total of 127 samples from 20 species including their corresponding medicinal slices (Fengdous) were used in this study. Our results suggest that and its medicinal slices can be rapidly and unequivocally identified using this method that combines real-time PCR with the amplification refractory mutation system (ARMS).

Detection of EGFR Gene Mutation in Lung Adenocarcinoma by ARMS and Its Clinical Significance / 现代检验医学杂志

Objective To investigate the efficacy and clinical significance of amplification refractory mutation system (ARMS)in epidermal growth factor receptor (EGFR) gene mutation in lung adenocarcinoma.Methods Collected 566 specimens of lung adenocarcinomia in pathology from Department of the First Affiliated Hospital of Xi'an Jiaotong University from January 2015 to August 2016.As the research object,which included 34 cases of pleural cell specimens,401 cases of lung biopsy specimens and surgical specimens from 131 patients with ARMS to complete the above specimens EGFR gene mutation detection,analysis of EGFR gene mutations associated with non-small cell lung cancer patients clinical data.Results Among 566 cases of lung cancer specimens,the EGFR mutation rate of 239 cases of patients with smoking had no obvious correlation with age,gender and surgical methods(P＞0.05),but primary lung site was closely related (P＜0.05),and EGFR mutation rate of 327 cases of patients with non smoking had no obvious correlation withage,sex,operation mode and primary lung site (P＞0.05).Conclusion ARMS is an ideal method for the detection of EGFR gene mutation in non-small cell lung cancer.Smoking is a great influence on EGFR mutation rate in both lung tissue,and for right lung tissue is more dramatic.

Rapid detection of human MTHFR gene polymorphism by the TaqMan-ARMS method / 临床检验杂志

Objective To establish a rapid detection method for human methylene tetrahydrofolate reductase ( MTHFR) gene polymor-phism by using the primer mismatching amplification and fluorescence quantitative PCR. Methods A total of 214 samples with differ-ent MTHFR C677T genotypes ( CC, CT, TT) or different A1298C genotypes ( AA, AC, CC) , which were verified by gene sequen-cing, were collected, and the plasmids with the corresponding wild-type and homozygous mutants were constructed, respectively. The amplification refractory mutation system ( ARMS) primers and TaqMan probes were designed based on the wild-type standard sequence of MTHFR gene, and the optimal mutation detection system was established. The results from the system were compared with the known sequencing results to verify the feasibility of the system. Results The performance of the established TaqMan-ARMS method was ex-cellent, which had 10 copies/μL of lowest detectable limit and high specificity. There was no nucleic acid amplification in the cross de-tection between samples and the negative control. In addition, the established method had good repeatability. The standard deviations of the reproducibility detection of MTHFR-667 and 1298 loci ranged from 0.11 to 0.44, and the coefficients of variation ( CV) of homozy-gous and heterozygous samples were all less than 4.52％. The consistency of the established method with the sequencing method in 214 clinical samples was 100％. Conclusion The established TaqMan-ARMS method for the detection of MTHFR gene polymorphism is simple, rapid and accurate, which may be used for the rapid diagnosis of clinical patients.

Distribution of Moxibustion-induced Thermosensitive Acupoints of Yangming Meridians in Patients with Perennial Allergic Rhinitis / 针刺研究

OBJECTIVE: To examine the distribution of heat-sensitive acupoints below the elbow and knee joints of the Yangming Meridians in patients with perennial allergic rhinitis (PAR)．. METHODS: A total of 27 PAR volunteers 16－55 years in age were recruited in the present study. In a quiet room, the patient was ordered to take a recumbent or sitting position, and the operator held an ignited moxa-stick to make a circling (about 2 min), sparrow-pecking (2 min) and forwards-backwards moving (1 min) moxibustion perpendicularly over the skin (about 3 cm away) along the running course of the Large Intestine Meridian of Hand Yangming below the elbow joints and the Stomach Meridian of Foot Yangming below the knee joints on both sides. The procedures were repeated again and again until the moxibustion sensation disappeared. The patient was asked to carefully perceive the heat diffusion, diathermic, extending, athermal (cool and itching) feelings, at the heated loci. If one or more of the feelings appeared, it was considered as the thermosensitive phenomenon and that spot was marked as the "thermosensitive spot" or "thermosensitive acupoint"．. RESULTS: In those 27 PAR patients, the thermosensitive response was found at Quchi (LI 11), Shousanli (LI 10), Hegu (LI 4), Sanjian (LI 3), and Zusanli (ST 36), constituting 59.25% (16/27), 85.18% (23/27), 44.44% (12/27), 55.55% (15/27), and 11.11% (3/27), respectively, being 92.59% in total. Of the 27 patients, 2, 2, 9, 8, 5 and 1 cases had 0, 1, 2, 3, 4 and 5 thermosenitive acupoints appeared, accounting for 7.41%, 7.41%, 33.33%, 29.63%, 18.52% and 3.70%, respectively. CONCLUSION: There is a certain occurrence rate of the thermosensitive acupoints below the elbow and knee joints of the Yangming Meridians in PAR patients, which may provide a target-point for treating PAR.

Detection of Rare Mutations in EGFR-ARMS-PCR-Negative Lung Adenocarcinoma by Sanger Sequencing

PURPOSE: This study aimed to identify potential epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer that went undetected by amplification refractory mutation system-Scorpion real-time PCR (ARMS-PCR). MATERIALS AND METHODS: A total of 200 specimens were obtained from the First Affiliated Hospital of Guangzhou Medical University from August 2014 to August 2015. In total, 100 ARMS-negative and 100 ARMS-positive specimens were evaluated for EGFR gene mutations by Sanger sequencing. The methodology and sensitivity of each method and the outcomes of EGFR-tyrosine kinase inhibitor (TKI) therapy were analyzed. RESULTS: Among the 100 ARMS-PCR-positive samples, 90 were positive by Sanger sequencing, while 10 cases were considered negative, because the mutation abundance was less than 10%. Among the 100 negative cases, three were positive for a rare EGFR mutation by Sanger sequencing. In the curative effect analysis of EGFR-TKIs, the progression-free survival (PFS) analysis based on ARMS and Sanger sequencing results showed no difference. However, the PFS of patients with a high abundance of EGFR mutation was 12.4 months [95% confidence interval (CI), 11.6−12.4 months], which was significantly higher than that of patients with a low abundance of mutations detected by Sanger sequencing (95% CI, 10.7−11.3 months) (p < 0.001). CONCLUSION: The ARMS method demonstrated higher sensitivity than Sanger sequencing, but was prone to missing mutations due to primer design. Sanger sequencing was able to detect rare EGFR mutations and deemed applicable for confirming EGFR status. A clinical trial evaluating the efficacy of EGFR-TKIs in patients with rare EGFR mutations is needed.

Analysis of epidermal growth factor receptor gene T790M mutation in plasmatic ctDNA samples of pa-tients with non-small cell lung cancer / 实用医学杂志

Objective To investigate epidermal growth factor receptor(EGFR)gene T790M mutation in plasmatic ctDNA samples from 171 patients with non-small cell lung cancer and analyze the relationship between EGFR T790M mutation and the clinical factors. Methods The EGFR T790M mutation was detected in 171 cases by super amplification refractory mutation system(Super ARMS)in this paper. Rusults The EGFR gene T790M mutation was identified in 7.60%(13/171)plasmatic ctDNA samples which mostly came from patients withⅢb~Ⅳstages of lung cancer. The EGFR T790M mutation rate was identified in 2.05%(3/146)plasmatic samples of pa-tients who did not received treatment of EGFR-TKIs,which was lower than 40.00%(10/25,P<0.05)plasmatic samples of patients who received treatment of first generational EGFR-TKIs. The EGFR T790M mutation rate was identified in 75.00%(3/4) and 60.00%(6/10) plasmatic samples of patients who have received TKI for 6 to 10 months and more than 10 months,which was higher than 9.10%(1/11,P < 0.05)plasmatic samples of patients who have received TKIs for less than 6 months. Conclusions This article demonstrated that EGFRT790M muta-tion was more common in lately NSCLC patients who have received TKIs treatmentover 6 months,meanwhile the EGFR T790M mutation dynamical detective technology will effectively guide the clinic treatment.

Analysis of epidermal growth factor receptor gene T790M mutation in plasmatic ctDNA samples of pa-tients with non-small cell lung cancer / 实用医学杂志

Objective To investigate epidermal growth factor receptor(EGFR)gene T790M mutation in plasmatic ctDNA samples from 171 patients with non-small cell lung cancer and analyze the relationship between EGFR T790M mutation and the clinical factors. Methods The EGFR T790M mutation was detected in 171 cases by super amplification refractory mutation system(Super ARMS)in this paper. Rusults The EGFR gene T790M mutation was identified in 7.60%(13/171)plasmatic ctDNA samples which mostly came from patients withⅢb~Ⅳstages of lung cancer. The EGFR T790M mutation rate was identified in 2.05%(3/146)plasmatic samples of pa-tients who did not received treatment of EGFR-TKIs,which was lower than 40.00%(10/25,P<0.05)plasmatic samples of patients who received treatment of first generational EGFR-TKIs. The EGFR T790M mutation rate was identified in 75.00%(3/4) and 60.00%(6/10) plasmatic samples of patients who have received TKI for 6 to 10 months and more than 10 months,which was higher than 9.10%(1/11,P < 0.05)plasmatic samples of patients who have received TKIs for less than 6 months. Conclusions This article demonstrated that EGFRT790M muta-tion was more common in lately NSCLC patients who have received TKIs treatmentover 6 months,meanwhile the EGFR T790M mutation dynamical detective technology will effectively guide the clinic treatment.

Nocturnal Restless Arms and Face Improved by Dopamine Agonist: Is It a Variant of Restless Legs Syndrome?

The symptoms of restless legs syndrome (RLS) usually involve legs and can extend to other body parts. However, isolated body parts other than leg have rarely been involved. A 32-year-old woman had abnormal sensations of both forearms and face during night, which caused a difficulty falling in sleep. The symptoms were relieved by shaking and rubbing. She experienced a clear benefit from pramipexole, but a recurrence of restlessness was followed in both arms subsequent to pramipexole withdrawal. Finally, she had been prescribed a dose of 0.375 mg, which was well tolerated for 6 years. We report a case of nocturnal restless arms and face without leg involvement, which was like RLS in terms of clinical criteria except lesion site.

ARMS-PCR Based SNP Analysis of MTHFR C677T Allele Using Syber Green in Pancreatic Tumour.

In human, carcinoma of pancreas, a rare disease and mortality rate is quite high in Indian population. Epidemiological studies support the hypothesis that folate metabolism regulate DNA stability and prevent cancer. Because folate have been linked to dietary supplement and defect in folate metabolism have been increase risk of developing cancer shows adverse effect on health conditions. In the present study we have assess methylene tetrahydrofolate reductase gene polymorphism (MTHFR) 677 C → T using ARMS PCR based SNP analysis using Syber green in the cases of pancreatic tumour to determine the “risk factor”. Interestingly, our findings reveals that 33.0% frequency (one case) showing mutation of MTHFR 677 TT genotype (rare type) in homozygous condition with Tm value 82.50°C for mutant 677T allele shifted to 677C allele (83.50°C).Two cases (66%) showing CC (wild type) allele and Tm value 82.83°C for 677C allele. In MTHFR 677TT is a rare mutation and individuals show very low enzymatic activity due to the substitution of alanine to valine. The study further continue to confirm the mutation by visualization on agarose gel electrophoresis of the same PCR product, again showing (Lane- 2) the band of 50 kb of mutant 677TT allele in the same case, suggesting an relevant role of folate metabolism and subsequent impairment of aberrant DNA methylation during carcinogenesis with increasing “high risk” for the development of carcinoma due to allele TT mutation of MTHFR. However, large samples size is required to further confirm the association.

Detection of Epidermal Growth Factor Receptor(EGFR) Mutations and the Significance in Patients with Non-small Cell Lung Cancer(NSCLC)of Hubei Province / 现代检验医学杂志

Objective To evaluated the prevalence of EGFR mutations in Hubei region,to provide reliable experimental basis for reasonable screening TKI beneficiaries in clinic.Methods EGFR mutation of 253 patients diagnosed with NSCLC in Hu-bei region during 2010 to 2015 was detected by PCR-sanger sequencing and ARMS assay,to investigate the sensitivity of dif-ferent methods,to explore the frequency and clinical significance of EGFR mutation in different gender,in different histologi-cal type and different exons.Results 93 of 253 NSCLC patients harbored EGFR mutation,mainly occurred in exon 19 and 21,accounting for 53.76% and 35.38% of the total EGFR mutation rate,respectively.ADx-ARMS method showed higher sensitivity (P=0.001).The mutation detection rate of female NSCLC was significantly higher than that of male NSCLC (P=0.001).The observed incidence of EGFR mutations in patients with adenocarcinomas (38.01%)was the highest in differ-ent histological type,followed by glandular squamous cell carcinoma (30.77%),large cell carcinoma (20%)and squamous cell carcinoma (4.55%).Nonsmoking patients had a higher EGFR mutation frequency (51.6%,81/157)than those with a history of smoking (24%,12/50).Conclusion ARMS assay was more sensitive and more convenient detection method for clinical screening for EGFR-TKI treatment subpopulation.The mutation rate of female NSCLC was significantly higher than that of male NSCLC in Hubei Province.Speculated that the sexual differences in NSCLC with EGFR mutation frequencies were related to hormone levels and smoking status.