ObjectiveTo investigate the correlation between different RAS/BRAF mutation sites and the clinicopathological characteristics, metastatic sites, and prognosis of patients with colorectal cancer. MethodsA retrospective analysis was conducted on the clinicopathological data of 415 patients with stage Ⅰ –Ⅲ microsatellite stability (MSS) colorectal cancer who underwent radical surgery at the Department of Colorectal Surgery, The First Affiliated Hospital of Zhejiang University, and the Department of General Surgery, Gansu Provincial People’s Hospital, from March 1, 2017, to October 1, 2022, and had next-generation sequencing data. According to the presence and sites of RAS/BRAF mutations, patients were divided into five groups: RAS/BRAF wild-type group, KRAS G12 codon mutation group, KRAS G13 codon mutation group, BRAFV600E mutation group, and other RAS codon mutation group. The clinicopathological characteristics and prognostic differences between the four groups of RAS/BRAF mutant colorectal cancer patients and the RAS/BRAF wild-type colorectal cancer patients were compared. ResultsAmong stage Ⅰ –Ⅲ MSS colorectal cancer patients, there were 166 cases (40.0%) of wild-type RAS/BRAF without mutation, 124 cases (29.9%) of KRAS G12 mutation, 55 cases (13.3%) of KRAS G13 mutation, 23 cases (5.5%) of BRAFV600E mutation, and 47 cases (11.3%) of other RAS codon mutations. Clinicopathological characteristics analysis revealed that BRAFV600E mutation was associated with mucinous adenocarcinoma (P=0.033). Compared with the wild-type group, KRAS G12 mutation could increase the probability of metachronous lung metastasis (P=0.003) and reduce the probability of metachronous liver metastasis (P=0.013); the KRAS G13 mutation and other RAS mutations could increase the probability of metachronous lung metastasis (P=0.004, P=0.006). Univariate and multivariate Cox proportional hazards regression analysis showed that among the RAS/BRAF codon mutations, only KRAS G13 mutation was an independent prognostic factor for poor prognosis in stage Ⅰ –Ⅲ colorectal cancer. ConclusionsDifferent RAS/BRAF gene codon mutations are associated with distinct clinicopathological characteristics and organ metastatic sites in colorectal cancer. KRAS G13 codon mutation is an independent prognostic factor for poor prognosis in stage Ⅰ –Ⅲ colorectal cancer. It is recommended that routine detection of RAS/BRAF gene site mutations should be performed in stage Ⅰ –Ⅲ colorectal cancer patients to guide the follow-up management and help clinicians make rational clinical decisions after tumor recurrence.
ObjectiveTo evaluate the diagnostic value of BRAFV600E mutation test in high-risk thyroid nodules with easily underdiagnosed fine-needle aspiration biopsy (FNAB) results.MethodsRetrospectively collected 122 cases of thyroid nodule who treated in the Hebei Petrochina Central Hospital between January 2017 and December 2018, all the cases admitted preoperative ultrasound and FNAB detection. All of the patients had the non-positive cytological results of FNAB and the high-risk features of ultrasound. Contrasted the postoperative pathological coincidence rate of combination of FNAB and BRAFV600E test with FNAB alone.ResultsThe BRAFV600E mutation rate was 27.0% (33/122). The positive rate of BRAFV600E mutation increased with the increase of ultrasound thyroid imaging reporting and data system(TI-RADS) grade (P<0.05), which was independent of patients’ age, gender, number of nodules, diameter of nodules, and FNAB results (P>0.05). The coincidence rate of FNAB combined with BRAFV600E mutation detection was higher than that of FNAB alone ［86.9% (106/122) vs. 69.7% (85/122), P<0.05).ConclusionsThe BRAFV600E mutation test can detect papillary thyroid carcinoma that might be missed by FNAB. We recommend that FNAB should be routinely accompanied by the BRAFV600E mutation test in the high-risk thyroid nodules.
ObjectiveTo investigate the relationship of concomitant BRAFV600E gene mutation with the predictive factors of papillay thyroid microcarcinoma(PTMC). MethodsBy fluorescence quantitative PCR method to detect BRAFV600E gene mutation of PTMC of 86 cases, and to detect the relationship with clinical pathological features of PTMC by single factor and multi-factor logistic regression analysis. ResultsThe morbidity of BRAFV600E gene mutation was 65.1%(56/86). By univariate analysis, BRAFV600E gene mutation status showed a related trend with lymph node metastasis(P=0.057). The multivariate analysis showwd that lymph node metastasis was correlated with BRAF V600E gene mutation(P < 0.05). When the diameter of tumor > 5 mm and≤10mm, BRAFV600E gene mutation was no statistically significantly related to central lymph node metastasis(P > 0.05). When BRAFV600E gene mutations was negative in patients with tumor diameter≤5 mm, no lymph node metastasis sample appeared. ConclusionsThe presence of BRAFV600E gene mutation is an independent predictive factor for central lymph node metastasis. When PTC with preoperative BRAFV600E gene mutation positive, the central neck dissection should be routine performed. There should be re-examined the necessity of preventative central lymph node disection when the tumor diameter is 5 mm or less with the patients which mutation negative.
ObjectiveTo study the expressions of BRAF gene in papillary thyroid microcarcinoma (PTMC) and papillary thyroid carcinoma (PTC) >1 cm in diameter, and the invasiveness of PTMC and PTC. MethodsThe data of 275 patients with PTC received surgical treatment and with BRAF gene mutation results in West China Hospital of Sichuan University from 2011 September to 2013 September were retrospectively analyzed. According to the size of tumors, the patients were divided into three groups, was the diameter <1 cm group, 1 cm< diameter≤2 cm group, and diameter >2 cm group,respectively. The ratio of BRAF gene mutation, and the degree of risk of extrathyroidal invasion and lymph node metastasis were compared. ResultsUnivariate analysis showed that tumor size was not related with the age, gender, and BRAF gene mutation rate (P>0.05), while the tumor size was related with the extrathyroidal invasion and lymph node metastasis (P<0.05), and the ratio of BRAF gene mutation was related with the extrathyroidal invasion and lymph node metastasis (P<0.05). Multivariate analysis showed that tumor size was associated with extrathyroidal extension (P=0.009) and lymph node metastasis (P=0.000). ConclusionsBRAF gene mutation can increase the extrathyroidal invasion and lymph node metastasis risk of PTC, and it is no significantly correlated with tumor size of PTC. The invasiveness of PTC increases with the increased of tumor size, but the PTMC of BRAF gene mutation positive is still require positive treatment.
ObjectiveTo investigate association between BRAFV600E gene mutation and extrathyroidal extension (ETE) among patients with papillary thyroid carcinoma (PTC).MethodsA retrospective study was conducted to collect all PTC surgical patients in the Renmin Hospital of Wuhan University from 2017 to 2019. The patients tested for BRAFV600E gene mutation were selected, and the association between BRAFV600E gene mutation and ETE were analyzed.ResultsThe BRAFV600E gene mutation test was performed only in 273 cases, 223 and 50 of whom were BRAFV600E gene with and without mutation, respectively; 194 and 79 of whom had ETE and no ETE, respectively. Univariate analysis showed that the incidence rate with BRAFV600E gene mutation was higher in the patients with ETE as compared with the patients without ETE (86.1% vs 70.9%, P=0.003) and the incidence rate of ETE was higher in the patients with BRAFV600E gene mutaton than in the patients without BRAFV600E gene mutaton (74.9% vs 54.0%, P=0.003). In addition, the incidence rates of ETE in the patients with tumor diameter >1 cm, bilaterality, and multifocality were higher than those in the patients with tumor diameter ≤1 cm (86.7% vs 61.3%, P<0.001), unilaterality (89.6% vs 63.8%, P<0.001), and single lesion (85.7% vs 60.9%, P<0.001), respectively. The incidence rate of ETE was increased with the increase of lymph node stage (P=0.003). Multivariate logistic regression analysis showed tumor size >1 cm [OR=3.606, 95%CI (1.758, 7.396), P<0.001], multifocality [OR=2.524, 95%CI (1.154, 5.519), P=0.020], with BRAFV600E gene mutaton [OR=3.022, 95%CI (1.443, 6.326), P=0.003] were the risk factors for ETE.ConclusionThe preliminary results of this study suggest that PTC patients with BRAFV600E gene mutaton are more likely to gross ETE.
Objective To detective KRAS and BRAF mutations in gastrointestinal stromal tumors (GISTs) and explore its significance in resistance of imatinib treatment. Methods Three hundred and eighty-one c-kit/PDGFRA mutation samples, 119 c-kit/PDGFRA wild type samples, and 19 pairs of samples before and after imatinib resistance from 519 patients with GIST were enrolled in this study. Polymerase chain reaction was used to detect KRAS exon 2 and BRAF exon 15 mutations. The survival data were evaluated in patients with KRAS or BRAF mutation. Results KRAS mutation was found in 2 cases (1.7%) of c-kit /PDGFRA wild type GISTs, the type of KRAS mutation was G12D and G12C, respectively. BRAFV600E mutation was found in 2 cases (1.7%) of wild type GISTs. No KRAS and BRAF mutations were found in the patients with the c-kit/PDGFRA mutation GISTs and pairs of GISTs before and after imatinib resistance. Two patients with KRAS mutation showed shorter progression free survivals for imatinib treatment. Two patients with BRAF mutation had longer recurrence free survivals. Conclusions Low frequency of KRAS or BRAF mutation only happens in wild type GISTs. KRAS mutation might be related to imatinib primary resistance, but not to secondary resistance.
Objective To summarize the significance of BRAFV600E mutation for the diagnosis, treatment, and prognosis of papillary thyroid cancer (PTC). Methods Related literatures which were published in recent years for exploring the relationship of BRAFV600E mutation and PTC were collected and reviewed. Results The BRAFV600E mutation was the most common mutant type in PTC, which played an important role in the oncogenesis and development of PTC. In addition, this type of mutation was closely associated with aggressive behavior and poor prognosis of PTC. The BRAFV600E testing in fine needle aspiration (FNA) samples of thyroid nodule not only facilitated to improve the diagnostic accuracy of PTC, but also helped ensure the recurrence risk classification, selection of surgical treatment, and follow-up planning. Conclusion BRAFV600E mutation was prevalent in PTC and had important significance both in diagnosis and prognostic evaluation of PTC.
This study reports a case of a 56-year-old female patient with BRAF-mutated non-small cell lung cancer (NSCLC) who successfully underwent curative surgery after neoadjuvant targeted therapy with the BRAF inhibitor dabrafenib combined with the MEK inhibitor trametinib. The chest drainage tube was removed 2 days postoperatively, and the patient was discharged smoothly. Postoperative pathology indicated invasive adenocarcinoma, moderately to highly differentiated, with 80% being lepidic type, and the maximum tumor diameter was 4 cm. No vascular invasion, nerve invasion, air cavity dissemination, pleural invasion, or lymph node metastasis were observed. The postoperative staging was ypT2aN0M0. The patient continued with adjuvant treatment with dabrafenib combined with trametinib postoperatively, and no signs of recurrence were found in the follow-up examination six months after surgery.
ObjectiveTo discuss the correlation of BRAFV600E mutation with clinicopathologic characteristics or thyroglobulin (Tg) in papillary thyroid carcinoma (PTC) and its clinical significance. MethodsThe BRAFV600E mutations of 55 patients with PTC were detected by nested PCR. The relations between BRAFV600E mutation and the clinicopathologic characteristics were analyzed. Results①The BRAFV600E mutations happened in 29 patients with PTC, the mutation rate was 52.7% (29/55).②The BRAFV600E mutation rate was related with extracapsular spread, multiple lesions, regional lymph node metastasis or average Tg value > 1.0μg/L during 2 years after standardized treatment (P value was 0.01, 0.02, 0.02, 0.03, respectively), but which not related with the gender, age, tumor diameter, or TNM stage (P > 0.05). ConclusionThe BRAFV600E mutation in PTC might lead to increased tumor aggressiveness and it might be related with increased Tg value after standardized treatment.
ObjectiveTo detect expressions of epidermal growth factor receptor (EGFR), BRAF, and K-Ras genes in colorectal carcinoma tissues and explore pathogenesis in colorectal carcinoma. MethodThe expressions of EGFR, BRAF, and K-Ras genes were detected in these 136 colorectal carcinoma tissues and their corresponding adjacent normal colorectal tissues by immunohistochemistry. ResultsThe expressions of EGFR and BRAF in the colorectal carcinoma tissues were significantly higher than those in their corresponding adjacent normal colorectal tissues (P<0.05), but the expression of K-Ras had no significant difference between these two tissues (P>0.05). The expression of EGFR gene was related to the TNM stage, lymphatic metastasis, or degree of differentiation. The expression of BRAF gene was related to the TNM stage. The expression of K-Ras gene wasn,t related to the TNM stage, lymphatic metastasis, or degree of differentiation. The correlation analysis results showed that there was no relation among the EGFR, K-Ras, or BRAF expression. ConclusionsUp-regulated of EGFR and BRAF gene expressions might be related to development of colorectal carcinoma, and role of K-Ras is unclear. Anti EGFR and BRAF target therapy might be benefited for patients with colorectal carcinoma.