Evaluation of Fluctuations of BRAF Gene Expression and its Polymorphism at rs1267623 in Colorectal Cancer.

BACKGROUND: Molecular markers in Colorectal Cancer (CRC) are needed for more ac-curate classification and personalized treatment. In this way, we investigated the effects of the BRAF gene on clinical outcomes of its expression fluctuations and its polymorphism at rs1267623 in CRC. METHODS: In this study, 36.36 percent of patients with CRC were women, and 63.63 percent were men. After the pathology department confirmed the tumor of the samples, the stage and grade of the tumor were determined according to the TNM system. Real-time PCR was used to check the expression of the BRAF gene in tumor and non-tumor tissues, and its polymorphism in rs1267623 was also checked using the Tetra-ARMs PCR technique. RESULTS: The expression of BRAF in tumor tissues was significantly higher than in non-tumoral tissues (P = 0.001), indicating an upregulation of BRAF gene expression in tumoral tissues. The user's text is empty. Furthermore, there was a significant correlation between BRAF expression and tumor stage (P = 0.001), as well as tumor grade (P = 0.003). However, no significant link was found between lymph node metastasis and distant metastasis of BRAF gene expression (P = 0.3). Additionally, no mutation was detected in the investigation of rs1267623 polymorphism. CONCLUSION: The BRAF gene was upregulated in tumoral tissues. Remarkably, no mutation was found in the rs1267623 polymorphism. As a result, this gene can be used as a biomarker in the diagnosis and treatment of CRC.

The Combined Use of Fine-Needle Aspiration (FNA) and BRAF V600E Gene Testing: Can it Increase the Definitive Diagnosis Rate of Nodules Categorized as Bethesda III for Papillary Thyroid Carcinoma?

OBJECTIVE: This study aimed to analyze the malignant probability of thyroid nodules diagnosed as indeterminate cytology, including atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS), and investigate the diagnostic value of combining BRAF V600E gene testing within this classification. METHODS: We conducted a retrospective analysis of 126 patients who underwent fine-needle aspiration (FNA) examination of thyroid nodules and subsequent surgical treatment at Beijing Haidian Hospital between October 2021 and November 2022. Among them, there were 22 male and 104 female patients, aged between 18 and 75 years old. Surgical pathology results were considered the gold standard for diagnosing the nature of thyroid nodules, evaluating the malignant incidence of cytological results categorized as AUS/FLUS. Fisher's exact test and diagnostic test evaluation methods were used to analyze the discriminatory diagnostic efficacy of preoperative FNA combined with BRAF V600E gene testing for papillary thyroid carcinoma (PTC). Statistical analysis was performed using SPSS 22.0 software. RESULTS: In PTC patients, the BRAF V600E gene mutation rate was 87.93% (102/116). Within the category of FNA results as AUS/FLUS, the proportion of PTC was 60.00% (15/25). The specificity, sensitivity, positive predictive value, and negative predictive value of the BRAF V600E gene mutation in diagnosing PTC within the AUS/FLUS category were 10/10, 6/15, 6/6, and 10/19, respectively. The BRAF V600E gene mutation significantly increased the detection rate of PTC in patients classified under this cytology (P = 0.028, <0.05). CONCLUSION: Preoperative FNA combined with BRAF V600E gene mutation testing significantly enhances the malignant detection rate of thyroid nodules diagnosed cytologically as AUS/FLUS. This combined approach provides a potent tool to improve diagnostic accuracy in this indeterminate classification.

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation. Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity. Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis. Whole exome sequencing (WES) was conducted to identify the types and locations of possible gene mutations. Neurological development was assessed using electroencephalography (EEG), magnetic resonance imaging (MRI) and Gesell developmental evaluation. Results: All four CFCS patients exhibited de novo BRAF gene mutations, manifesting with cardiac malformations, distinctive facial features, skin and hair changes, and neurological abnormalities. WES revealed that the specific BRAF mutations were closely linked to their clinical severity. Three patients displayed milder symptoms (case 1-3, genotype I or II), demonstrating stability or slight improvement, whereas one patient (case 4, genotype III) suffered from a severe phenotype characterized by profound neurological and digestive system impairments, leading to a significantly reduced quality of life and a grim prognosis. Conclusion: In CFCS patients, severe developmental delay and seizures are predominant neurological features, possibly accompanied by continuous spike-and-wave during sleep (CSWS) and severe sleep disturbances. CFCS generally carries a poor prognosis, underscoring the importance of disease awareness and early genetic testing.

[Progress of BRAF Gene Alteration in Non-small Cell Lung Cancer].

V-Raf murine sarcoma viral oncogene homolog B (BRAF) alteration is one of the most essential driver genes of non-small cell lung cancer (NSCLC). BRAF encodes serine/threonine protein kinases, and its mutations typically lead to protein compositional activation, thereby activating the mitogen-activated protein kinase kinase (MEK) signaling pathway. A promising new approach for the treatment of mutated BRAF and/or downstream MEK may provide customized treatment opportunities for BRAF driven NSCLC patients. However, combination therapy is necessary to overcome the difficulties such as short duration of benefit, poor therapeutic effect of non-V600 BRAF mutations and susceptibility to drug resistance. This article reviewed the progress in structural characteristics, related signaling pathways, mutation types of BRAF gene, and the clinical pathological relationship between BRAF mutations and NSCLC, as well as the therapy, in order to provide more evidences for clinical doctors to make treatment decisions.
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Correlation analysis of risk factors for cervical lymphatic metastasis in papillary thyroid carcinoma.

OBJECTIVE: This study aims to identify and analyze the risk factors associated with Cervical Lymph Node Metastasis (CNM) in Papillary Thyroid Carcinoma (PTC) patients. METHODS: We conducted a retrospective study involving the clinicopathological data of 2384 PTC patients admitted to our hospital between January 2016 and December 2020. All relevant data were statistically processed and analyzed. RESULTS: The related risk factors for Central Lymph Node Metastasis (CLNM) were gender (male), age (≤ 30 years old), tumor lesion size (> 0.855 cm), and multifocal tumor foci. The ROC curve revealed that the critical value for predicting CLNM based on tumor lesion size was 0.855 (sensitivity = 57.9%, specificity = 69%, AUC = 0.269, and P < 0.05). Lateral Lymph Node Metastasis (LLNM) was positively correlated with tumor diameter. Specifically, the LLNM rate increased with the tumor diameter. LLNM occurrence was significantly higher in zones II, III, and IV than in zones I and V. Although the BRAF gene mutation detection assay has certain clinical benefits in diagnosing PTC and LLNM, no statistically significant difference was found in its relationship with central and lateral neck lymph node metastases (P = 0.741). CONCLUSION: Our findings revealed that CLNM is associated with gender (male), age (≤ 30 years old), tumor lesion size (> 0.855 cm), and multiple tumor lesions in PTC patients. Central Lymph Node Dissection (CLND) is recommended for patients with these risk factors. On the other hand, preoperative ultrasound examination, fine-needle pathological examination, and genetic testing should be used to determine whether Lateral Cervical Lymph Node Dissection (LLND) is needed.

Progress of BRAF Gene Alteration in Non-small Cell Lung Cancer / 中国肺癌杂志

V-Raf murine sarcoma viral oncogene homolog B (BRAF) alteration is one of the most essential driver genes of non-small cell lung cancer (NSCLC). BRAF encodes serine/threonine protein kinases, and its mutations typically lead to protein compositional activation, thereby activating the mitogen-activated protein kinase kinase (MEK) signaling pathway. A promising new approach for the treatment of mutated BRAF and/or downstream MEK may provide customized treatment opportunities for BRAF driven NSCLC patients. However, combination therapy is necessary to overcome the difficulties such as short duration of benefit, poor therapeutic effect of non-V600 BRAF mutations and susceptibility to drug resistance. This article reviewed the progress in structural characteristics, related signaling pathways, mutation types of BRAF gene, and the clinical pathological relationship between BRAF mutations and NSCLC, as well as the therapy, in order to provide more evidences for clinical doctors to make treatment decisions.
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Diagnostic value of contrast-enhanced ultrasound combined with fine-needle aspiration biopsy and BRAF gene detection for TI-RADS category 4 nodules / 中华超声影像学杂志

Objective:To explore the diagnostic value of contrast-enhanced ultrasound combined with fine-needle aspiration biopsy and BRAF gene detection for TI-RADS category 4 nodules.Methods:The clinical datas of 80 patients who underwent surgery in the First Affiliated Hospital, Zhejiang University School of Medicine and Lishui People′s Hospital and diagnosed with TI-RADS 4 thyroid nodules from January 2019 to January 2020 were retrospectively analyzed. All patients received contrast-enhanced ultrasound combined fine-needle aspiration biopsy and BRAF gene detection, the ROC curves were plotted, the area under the ROC curve(AUC) and the best diagnostic cut-off values were calculated, and the application value of ultrasound-enhanced contrast, fine-needle aspiration biopsy and BRAF gene detection were compared.Results:Based on the results of pathological diagnosis, in diagnosing TI-RADS 4 thyroid nodules, the sensitivity, specificity and accuracy were 77.61%, 70.97% and 75.51% for contrast-enhanced ultrasound, respectively; 80.60%, 74.19%, and 78.57% for ultrasound-guided fine-needle aspiration biopsy, respectively; 79.10%, 96.77%, and 84.69% for the BRAF gene test, respectively; and 98.51%, 70.97% and 89.80% for the combined diagnosis, respectively. The AUC was 0.790 for contrast-enhanced ultrasound, and 0.774 for ultrasound-guided fine-needle aspiration biopsy, 0.799 for BRAF genetic testing, and 0.847 for combined testing. The diagnostic value of combined diagnosis was significantly higher than other diagnostic methods ( P<0.05). Conclusions:Contrast-enhanced ultrasound combined with fine-needle aspiration biopsy and BRAF gene detection is valuable for the diagnosis of TI-RADS 4 class thyroid nodules and improves the preperative diagnosis.

Cardio / 中南大学学报(医学版)

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.

Logic and clinical significance of the new WHO classification of ameloblastoma in 2017 / 口腔疾病防治

@#A substantial revision of the classification of ameloblastoma was made by the World Health Organization (WHO) in the fourth edition of the Classification of Head and Neck Tumors in 2017, which was based on the review and summary of much clinical research data and prospective evaluation of the latest results of genetic research. The new classification is simpler and more practical. It retains two subtypes, the unicystic type and extraosseous/peripheral type, classifies the remaining types as ameloblastoma (classic), defines metastatic ameloblastoma as a benign tumor and simplifies the classification of ameloblastic carcinoma, which has important guiding significance for clinical diagnosis and treatment. Moreover, the new classification included the latest advances in the genetic research on ameloblastoma, demonstrating that the BRAF gene mutation was found in approximately 60% of ameloblastoma cases. The classification provides a new concept and direction for studying the pathogenesis of ameloblastoma, and BRAF-targeted therapy may be an emerging therapy for some ameloblastoma patients with multiple recurrence or surgical contraindications. This article analyzes the intrinsic logic of these changes via a review of the relevant literature and combination of clinical experiences to better understand the new classification. In 2017, the WHO′s new classification of ameloblastoma summarized the experience and achievements in histopathology and clinical treatment of ameloblastoma in the prior 10 years, indicating that BRAF-targeted treatment may bring new treatment options and hope for patients with recurrent or inoperable ameloblastoma.

Correlation of papillary thyroid carcinoma different subtypes BRAF mutation and ultrasonic characteristics / 中华超声影像学杂志

Objective To investigate the correlation of BRAF mutation frequency with cervical lymph node metastasis ,and to compare the ultrasonic characteristics in patients with BRAF mutation in papillary thyroid carcinoma ( PTC) different subtypes . Methods The tumor samples were collected from 139 PTC patients who underwent thyroidectomy . And they were classified by histological subtype into 3 groups:classic variant of papillary thyroid carcinoma (CVPTC) group( 34 cases) ,follicular variant of papillary thyroidcarcinoma (FVPTC) group(36 cases) ,tall cell variant (TCV) group(69 cases) . The BRAF mutation frequency and the correlation with cervical lymph node metastasis among 3 groups were analyzed , then the ultrasonic characteristics with BRAF mutation in PTC different subtypes were compared . Results①The frequency of BRAF mutation was statistically significant different in different subtypes( χ2 =6 .390 , P =0 .041) ,and the frequency in TCV was 86 .9％ . There was also a statistical difference between BRAF mutation frequency and cervical lymph node metastasis among three subtypes ( χ2 = 13 .106 , P =0 .041) .②There was no statistically significant difference among the three groups in nodule number ,echo level , internal structure ,boundary ,crossbar ,morphology and acoustic halo of patients with BRAF mutation ( P >0 .05) . ③ A single factor analysis was performed for the ultrasonographic characteristics of patients with BRAF mutation ,and there were significant statistical differences among the 3 groups in calcification type (χ2 = 21 .7 , P = 0 .001 ) and close to the envelope (χ2 = 7 .726 , P = 0 .021 ) . ④ Multivariate logistic regression showed that BRAF mutation was an independent influence factor affecting the calcification type of different histological subtypes in PTC patients.Conclusions ①BRAF mutation is correlated with cervical lymph node metastasis in different PTC subtypes . ② BRAF mutation is an independent influence factor affecting the morphology type of different calcification subtypes in PTC . The CVPTC group is mainly microcalcification ,and the TCV group is mainly macrocalcification .

BRAF/ KRAS and PIK3CA mutation characteristics and clinical significance in primary small cell lung caner / 中华放射肿瘤学杂志

Objective To detect the frequency of BRAF/ KRAS and PIK3CA mutations in the small cell lung cancer (SCLC) specimens from a large population of Chinese patients and to analyze the gene mutation and clinical characteristics. Methods A total of 557 samples were collected from SCLC patients from 2009 to 2014.BRAF,KRAS,PIK3CA,NRAS and MEK1 gene mutations were detected by the dideoxy sequencing. Chi-square test was adopted to analyze the correlation between clinical factors and gene mutation. Kaplan-Meier method was utilized for survival analysis. Cox model was used for multivariate prognostic analysis. Results BRAF mutations were detected in 13 out of 557 specimens. The mutation types included V600E (n= 5) ,V600A (n= 2) ,V600M (n= 1) ,D594G (n= 1),G464E (n= 1),K601R (n= 2) and S605N (n= 1).KRAS mutation was detected in 6 cases including G12C (n= 3),G12A (n= 1),G12D (n=1) andG13D (n= 1).PIK3CA mutation was observed in 4 samples including E545G (n= 2) and H1047R (n= 2).Besides,NRAS mutation (Q61R) was detected in 1 case and MEK1 mutation (D61Y) was noted in 1 case. These gene mutations were not significantly correlated with the age, gender, smoking status and clinical staging of the patients. Univariate survival analysis demonstrated the median survival time of patients with gene mutation was (10.30±0. 751) months (95％CI:8. 829-11. 771 months),significantly shorter than (12.80±0. 543) months (95％CI:11. 736-13. 864 months) of their counterparts without gene mutation (P=0. 011). Conclusions BRAF/ KRAS and PIK3CA gene mutation is detected in a small proportion of SCLC patients. These gene mutations are not significantly correlated with the clinical characteristics. Univariate survival analysis demonstrates that negative these gene mutations are negatively correlated with the clinical prognosis of SCLC patients.

Progress of BRAF gene mutation in children with langerhans cell histiocytosis / 国际儿科学杂志

Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal proliferation and aggregation of LCH cells(Langerhans cells,LCs),and there has been controversy about its pathogenesis.In recent years,BRAF mutations have been detected repeatedly in LCH patients,suggesting that the BRAF gene mutation may drive the occurrence and development of LCH,and may be associated with clinical chemotherapy and prognosis.These findings not only provide evidence for LCH as a tumor disease,but also lay a molecular genetic basis for the development of targeted therapy for LCH.

Research advances in the v-raf murine sarcoma viral oncogene homolog gene mutation in ameloblastoma / 中华口腔医学杂志

V-raf murine sarcoma viral oncogene homolog B1 (BRAF) is a pro-oncogene, which is one member of the RAF family. Mutated BRAF is found in approximately 8% of human tumors. BRAF gene mutations lead to continuous activation of the mitogen-activatd protein kinase (MAPK) pathway, which resulting in abnormal cell proliferation and tumorigenesis. In recent years, recurrent MAPK signaling mutations were identified in ameloblastoma, among which BRAF-V600E is the most prominent type. This provides new strategies for the targeted treatment of ameloblastoma. This paper reviewed the latest advances in BRAF gene mutation associated with ameloblastoma and its potential clinical significance.

Clinical significance of detection for mutated BRAF gene in thyroid nodules based on amplification refractory mutation system / 中国耳鼻咽喉头颈外科

OBJECTIVE To explore the feasibility of detection for mutated BRAF V600E gene based on amplification refractory mutation system(ARMS),and to evaluate its clinical significance of BRAF V600E gene mutation in thyroid nodules.METHODS The method of ARMS was used to detect BRAF V600E mutation status in 179 patients with PTC and 115 patients with benign lesions.The diagnosis index of BRAF V600E mutation status for identifying the nature of the thyroid nodule was calculated.The potential correlation between BRAF V600E mutation and PTC clinicpathological characteristics was also analyzed.RESULTS Detection of BRAF V600E mutation status in thyroid lesions based on ARMS was feasible and believable.The positive rate of mutated BRAF V600E gene in PTC was 82.68％,whereas the rate in benign lesions was only 1.74％,indicating statistical differences between the two groups(x2=183.568,P＜0.01).The diagnostic sensitivity of BRAF V600E mutation was 82.68％,specificity was 98.26％,accuracy was 88.76％,and Youden index was 0.8094.There was no associations between the BRAF V600E mutation status and PTC clinicpathological characteristics(eg.gender,age,tumor size,numbers of lesions,bilateral lesions,extrathyroidal extension and lymph node metastasis).CONCLUSION Detection of BRAF V600E mutation based on ARMS has higher sensitivity and specificity in distinguishing PTC from benign lesions,indicating BRAF V600E gene is an ideal marker of PTC for clinical early diagnosis.

Correlation between BRAF gene mutation and papillary thyroid carcinoma / 肿瘤研究与临床

Papillary thyroid carcinoma (PTC) is a common tumor in endocrine system with unclear pathogenesis. The study has shown that the stimulation of cell growth, differentiation and gene mutation factors act together on the thyroid gland cells to transform into tumor cells from normal cells. A variety of oncogenes and tumor suppressor genes are involved in the development of PTC. In recent years, the study has found that BRAF gene mutation has a close relationship with the pathogenesis and prognosis of PTC. Mutated BRAF gene affects the occurrence and development of PTC owing to the regulation by RAS protein kinase and the application of biological function by activating MAPK signaling pathways.

Correlation of RAS mutations and microsatellite instability with clinico-pathological features and prognosis of patients with stage Ⅲ colorectal cancer / 中国病理生理杂志

AIM:To investigate the status of RAS/BRAF mutations and microsatellite instability ( MSI ) and their associations with clinicopathological features and prognosis of the patients with stage Ⅲ colorectal cancer ( CRC ) . METHODS:The surgical patients with stage ⅢCRC (n=281) were followed up.The mutations of RAS/BRAF were ex-amined by PCR amplification-Sanger sequencing , and MSI status was detected using immunohistochemistry ( IHC) in their archival paraffin-embedded tissue specimens .The relationships of the status with the clinicopathological features and prog-nosis of the patients were statistically analyzed .RESULTS: Among 281 patients, the mutations of RAS/BRAF were ob-served in 136 cases (48.4%), including 116 cases (41.3%) of KRAS mutations.RAS/BRAF mutations were highly cor-related with the level of carcino-embryonic antigen (P<0.05).Moreover, 18 cases (6.4%) of MSI-high (MSI-H) pa-tients were determined by IHC, and MSI-H status was more common in N2b patients (P<0.05).Correlation study found that the mutation rate of BRAF was higher in MSI-H tumors than that in MSI-low ( MSI-L)/microsatellite stability ( MSS) counterparts (P<0.01), although no association between KRAS/NRAS mutations and the MSI status was observed .The prognosis in the patients with wild-type RAS/BRAF or MSI-H was better than the patients with any mutation or MSI-L/MSS (P<0.01).CONCLUSION:Mutant RAS/BRAF and MSI may serve as fairly good indicators for prognosis of the patients with stage Ⅲ CRC.

Correlation of RAS mutations and microsatellite instability with clinico-pathological features and prognosis of patients with stage Ⅲ colorectal cancer / 中国病理生理杂志

AIM:To investigate the status of RAS/BRAF mutations and microsatellite instability ( MSI ) and their associations with clinicopathological features and prognosis of the patients with stage Ⅲ colorectal cancer ( CRC ) . METHODS:The surgical patients with stage ⅢCRC (n=281) were followed up.The mutations of RAS/BRAF were ex-amined by PCR amplification-Sanger sequencing , and MSI status was detected using immunohistochemistry ( IHC) in their archival paraffin-embedded tissue specimens .The relationships of the status with the clinicopathological features and prog-nosis of the patients were statistically analyzed .RESULTS: Among 281 patients, the mutations of RAS/BRAF were ob-served in 136 cases (48.4%), including 116 cases (41.3%) of KRAS mutations.RAS/BRAF mutations were highly cor-related with the level of carcino-embryonic antigen (P<0.05).Moreover, 18 cases (6.4%) of MSI-high (MSI-H) pa-tients were determined by IHC, and MSI-H status was more common in N2b patients (P<0.05).Correlation study found that the mutation rate of BRAF was higher in MSI-H tumors than that in MSI-low ( MSI-L)/microsatellite stability ( MSS) counterparts (P<0.01), although no association between KRAS/NRAS mutations and the MSI status was observed .The prognosis in the patients with wild-type RAS/BRAF or MSI-H was better than the patients with any mutation or MSI-L/MSS (P<0.01).CONCLUSION:Mutant RAS/BRAF and MSI may serve as fairly good indicators for prognosis of the patients with stage Ⅲ CRC.

Melanoma lentiginoso acral en una mujer suazí / Acral lentiginous melanoma in a suazi woman

Se presenta el caso clínico de una fémina de 58 años de edad, de raza negra, quien acudió a la consulta de Cirugía del Hospital Gubernamental de Mbabane en Suazilandia por presentar una lesión pigmentada y ulcerada en el talón del pie derecho, donde se le practicó una biopsia por escisión cuyo resultado fue un melanoma lentiginoso acral invasivo. Posteriormente fue evaluada en la consulta de Oncología y luego de realizarle los exámenes complementarios necesarios, la neoplasia se clasificó en estadio IIC. La paciente fue remitida a Sudáfrica para recibir tratamiento con citosinas inmunomoduladoras, factor estimulante de colonias de granulocitos y macrófagos o inhibidores del gen BRAF.

The case report of a 58 years black woman is presented. She went to the Surgery Service of Mbabane Government Hospital in Suaziland due to a pigmented and ulcerated injury in her right foot heel, where she had an excisional biopsy whose result was an invasive acral lentiginous melanoma. Later on she was evaluated in the Oncology Service and after carrying out the necessary complementary tests, the neoplasm was classified in stage IIC. The patient was referred to South Africa to receive treatment with immunomodulatory cytokines, stimulating factor of granulocytes and macrophages colonies or BRAF gene inhibitors.

BRAF and targeted treatment for non-small cell lung cancer / 国际肿瘤学杂志

B-Raf kinase (BRAF) gene is a driver mutation,and is an effective target in the treatment of non-small cell lung cancer (NSCLC).Studies have shown that BRAF inhibitors are effective for treatment of NSCLC with BRAF mutant.It is important to understand the clinicopathologic features and the research progress of BRAF inhibitors for the individual treatment of NSCLC.

Comparison of real-time PCR method with Sanger sequencing for detection of BRAF muta-tion in papillary thyroid carcinoma / 临床与实验病理学杂志

Purpose To investigate the positive rate and concordance rate of BRAF mutation in papillary thyroid carcinoma detected by real-time PCR method and Sanger sequencing. Methods 312 papillary thyroid carcinomas patients were enrolled in this study. Real-time PCR method and Sanger sequencing were performed to detect BRAF gene mutations. The frequency of BRAF mutation and the concordance of two methods were analyzed. Results BRAF mutation was detected in 65. 4% (204/312) and 63. 8% (199/312) of 312 papillary thyroid carcinoma samples by using real-time PCR method and Sanger sequencing, respectively. There was no significant correlation between BRAF gene mutations and patients’ gender. There was significant correlation between BRAF gene mutations and patients’ age. The overall concordance between real-time PCR method and Sanger sequencing for BRAF mutation detection was 98. 4%. Conclusion Real-time PCR method provides an effective method in BRAF gene mutation detection.