Detection of BRAF mutation in Chinese tumor patients using a highly sensitive antibody immunohistochemistry assay

Qiu, Tian; Lu, Haizhen; Guo, Lei; Huang, Wenting; Ling, Yun; Shan, Ling; Li, Wenbin; Jin, Ying; Lv, Ning

doi:10.1038/srep09211

Cited by 38 publications

(34 citation statements)

References 24 publications

(24 reference statements)

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“…However, studies from molecular diagnostic laboratory in our center also revealed low incidence of BRAF V600E mutations in Chinese CRCs detected by the high sensitive testing of ARMS PCR or next‐generation sequencing . In previous study, we also had confirmed that the fully automated IHC method to detect BRAF V600E mutation in CRCs had a high specificity and sensitivity validated by high sensitive ARMS PCR . So, IHC on BRAF V600E should not be the systematic shortcoming causing low rate of the mutation.…”

Section: Discussionmentioning

confidence: 54%

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort

Lin

Jin

Wang

et al. 2020

Intl Journal of Cancer

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Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) predisposition syndrome. We performed a large‐scale study to assess a screening strategy for identifying LS in Chinese CRC patients in routine clinical testing. A total of 4,195 eligible CRCs were universally screened. Then, 8.7% of CRCs were detected with dMMR. The incidence of LS was 2.7% (115 of 4,195) in this cohort; among patients over 70 years of age, only 0.3% (2 of 678) were diagnosed as LS. Then, 17.4% of LS cases showed large genomic deletions/duplications. LS probands developed CRCs predominantly at proximal colon location. The frequency of BRAF V600E mutation among Chinese CRCs was significantly lower than that among Western populations, and MLH1 promoter methylation significantly improved the efficiency of genetic screening for LS among MLH1‐deficient patients. A comprehensive molecular testing strategy that includes detection of large genomic rearrangements is imperative for the diagnosis of LS. Among CRC patients aged 70 years or younger, a selective strategy for LS screening might be considered for routine clinical testing.

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Section: Discussionmentioning

confidence: 54%

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort

Lin

Jin

Wang

et al. 2020

Intl Journal of Cancer

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Section: Discussionmentioning

confidence: 81%

“…In particular, considering the study of Qiu et al [23], who instead used the same fully automatized immunohistochemical method as we did, they found that the sensitivity and specificity of the VE1 antibody were 100 and 99%, respectively. However, it is to consider that in their set there were only 41 cases of malignant melanoma while the majority of them were colorectal carcinomas (611 samples) and papillary thyroid carcinomas (127 specimens) [23]. Our results are close to those of Yaman et al [24], who, in a study on 48 cases with both primary cutaneous and metastatic melanoma using the fully automatized Ventana® immunohistochemical method with the addition of an amplification signaling kit, reached a positive predictive value of 98.2% and a negative predictive value of 89.7%.…”

Section: Discussionmentioning

confidence: 81%

Is immunohistochemistry of BRAF V600E useful as a screening tool and during progression disease of melanoma patients?

et al. 2016

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BackgroundIn clinical practice the gold standard method to assess BRAF status in patients with metastatic melanoma is based on molecular assays. Recently, a mutation-specific monoclonal antibody (VE1), which detects the BRAF V600E mutated protein, has been developed. With this study we aimed to confirm the clinical value of the VE1 Ventana® antibody, as today a univocal validated and accredited immunohistochemical procedure does not exist, to preliminary detect BRAF status in our routine diagnostic procedures. Moreover, we explored the biological meaning of BRAF immunohistochemical labeling both as a predictor marker of response to target therapy and, for the first time, as a player of acquired tumor drug resistance.MethodsWe analyzed a retrospective series of 64 metastatic melanoma samples, previously investigated for molecular BRAF status, using a fully automatized immunohistochemical method. We correlated the data to the clinicopathologic characteristics of patients and their clinical outcome.ResultsThe sensitivity and the specificity of the Ventana® VE1 antibody were 89.2 and 96.2% respectively, while the positive predictive value and negative predictive value were 97.1 and 86.2%, respectively. For six mutated patients the histological sample before treatment and when disease progressed was available. The immunohistochemical BRAF V600E expression in the specimens when disease progressed was less intense and more heterogeneous compared to the basal expression. Multivariate analysis revealed that a less intense grade of positive expression is an independent predictor of a less aggressive stage at diagnosis (p = 0.0413).ConclusionsOur findings encourage the introduction of immunohistochemistry as a rapid screening tool for the assessment of BRAF status in melanoma patients in routine diagnostic procedures and prepare the ground for other studies to highlight the role of immunohistochemical BRAF V600E expression in patients at the time of progression.

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“…This includes LS screening for patients meeting the revised Bethesda criteria and for prognostication in patients with stage II (pT3N0 and pT4N0) or above CRC. The reference standard which the Idylla (index test) was compared against is a commonly used standard-care test, the Cobas 4800 BRAF V600 Mutation Test performed on the Cobas 4800 System (Roche Molecular Diagnostics),12 which has been previously validated on CRC tissue and is now in widespread use 17. This assay largely detects the V600E mutation, with limited D or K mutation coverage 12…”

Section: Introductionmentioning

confidence: 99%

Automated PCR detection ofBRAFmutations in colorectal adenocarcinoma: a diagnostic test accuracy study

2015

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Background Testing for BRAF mutations in colorectal carcinoma (CRC) is important in the screening pathway for Lynch syndrome and is of prognostic value to guide management. This is a diagnostic accuracy study of the Idylla system, a novel and automated alternative PCR system. Methods 100 consecutive formalin-fixed, paraffinembedded CRC resection cases were tested for BRAF mutations using the Idylla automated platform and compared with standard (Cobas) PCR. Results The sensitivity of the Idylla BRAF test was 100% and the specificity was 96%. Only one discordant Idylla positive/standard PCR negative result occurred and on Droplet Digital PCR demonstrated a mutation not identified by traditional PCR in this case. Conclusion This study has validated the Idylla system for BRAF testing in CRC and demonstrated a possibly greater sensitivity, in addition to cost effectiveness and shorter turnaround time, when compared with standard PCR.

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Detection of BRAF mutation in Chinese tumor patients using a highly sensitive antibody immunohistochemistry assay

Cited by 38 publications

References 24 publications

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort

Is immunohistochemistry of BRAF V600E useful as a screening tool and during progression disease of melanoma patients?

Automated PCR detection ofBRAFmutations in colorectal adenocarcinoma: a diagnostic test accuracy study

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