BRAFV600E and NRASQ61L/Q61R mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting

Kakavand, Hojabr; Walker, Emily; Lum, Trina; Wilmott, James S.; Selinger, Christina; Smith, E. L.; Saw, Robyn P.M.; Yu, Bing; Cooper, Wendy A.; Long, Georgina V.; O’Toole, Sandra A.; Scolyer, Richard A.

doi:10.1111/his.12992

Cited by 29 publications

(21 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It has been established that immunohistochemical detection of mutant BRAF V600 (VE1) protein can be used in clinical practice as a first screening test for BRAF mutations. Several authors (25)(26)(27)(28) have confirmed the correlation between immunohistochemical staining, using an anti-BRAF V600E (VE1) primary antibody and sequencing analysis. The authors highlighted that BRAF V600E (VE1) antibody is a reliable, highly specific antibody for the detection of mutated BRAF V600E protein.…”

Section: J Oral Pathol Medmentioning

confidence: 88%

Assessment of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in benign and malignant salivary gland neoplasms

Bodnar

Burduk

Antosik

et al. 2016

J Oral Pathology Medicine

View full text Add to dashboard Cite

show abstract

Section: J Oral Pathol Medmentioning

confidence: 88%

Assessment of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in benign and malignant salivary gland neoplasms

Bodnar

Burduk

Antosik

et al. 2016

J Oral Pathology Medicine

View full text Add to dashboard Cite

show abstract

“…40,41 Several authors confirmed that anti-BRAF V600E (VE1) antibody provides high reliability and specificity in the detection of mutated BRAF V600E protein. 42 Recently, some new molecular assays for BRAF mutations have become available. These are fully automated molecular diagnostic systems for quantitative allele-specific RT-PCR-based analyses.…”

Section: Discussionmentioning

confidence: 99%

Determination of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in borderline and low-grade ovarian cancers

et al. 2017

View full text Add to dashboard Cite

Epithelial ovarian tumors are a group of morphologically and genetically heterogeneous neoplasms. Based on differences in clinical phenotype and genetic background, ovarian neoplasms are classified as low-grade and high-grade tumor. Borderline ovarian tumors represent approximately 10%-20% of all epithelial ovarian masses. Various histological subtypes of ovarian malignancies differ in terms of their risk factor profiles, precursor lesions, clinical course, patterns of spread, molecular genetics, response to conventional chemotherapy, and prognosis. The most frequent genetic aberrations found in low-grade serous ovarian carcinomas and serous borderline tumors, as well as in mucinous cancers, are mutations in BRAF and KRAS genes. The most commonly observed BRAF mutation is substitution of glutamic acid for valine in codon 600 (V600E) in exon 15. The primary aim of this study was to determine whether fully integrated, real-time polymerase chain reaction-based Idylla™ system may be useful in determination of BRAF gene mutation status in codon 600 in patients with borderline ovarian tumors and low-grade ovarian carcinomas. The study included tissue specimens from 42 patients with histopathologically verified ovarian masses, who were operated on at the Department of Obstetrics and Gynecology, Nicolaus Copernicus University Collegium Medicum in Bydgoszcz (Poland). Based on histopathological examination of surgical specimens, 35 lesions were classified as low-grade ovarian carcinomas, and 7 as borderline ovarian tumors. Specimens with expression of BRAF V600E (VE1) protein were tested for mutations in codon 600 of the BRAF gene, using an automated molecular diagnostics platform Idylla™. Cytoplasmic immunoexpression of BRAF V600E (VE1) protein was found in three specimens: serous superficial papilloma, serous papillary cystadenoma of borderline malignancy, and partially proliferative serous cystadenoma. All specimens with the expression of BRAF V600E (VE1) protein were tested positively for BRAF V600E/E2/D mutation. No statistically significant relationship (p > 0.05) was found between the presence of BRAF V600E mutation and the probability of 5-year survival. BRAF mutation testing with a rapid, fully integrated molecular diagnostics system Idylla™ may be also a powerful prognostic tool in subjects with newly diagnosed serous borderline tumors, identifying a subset of patients who are unlikely to progress.

show abstract

“…Immunohistochemistry can serve as a quick screen, with excellent sensitivity for the BRAF V600E mutation. If immunohistochemistry is negative, alternative forms of testing are required to screen for other treatable mutations in BRAF (such as V600K, present in 10–20 per cent of the BRAF ‐mutant melanoma population) and other genes.…”

Section: Genomic Testing To Guide Treatment Of Metastatic Diseasementioning

confidence: 99%

Impact of genomics on the surgical management of melanoma

Ferguson

Long

Scolyer

et al. 2018

British Journal of Surgery

View full text Add to dashboard Cite

Background: Although surgery for early-stage melanoma offers the best chance of cure, recent advances in molecular medicine have revolutionized the management of late-stage melanoma, leading to significant improvements in clinical outcomes. Research into the genomic drivers of disease and cancer immunology has not only ushered in a new era of targeted and immune-based therapies for patients with metastatic melanoma, but has also provided new tools for monitoring disease recurrence and selecting therapeutic strategies. These advances present new opportunities and challenges to the surgeon treating patients with melanoma. Methods:The literature was reviewed to evaluate diagnostic and therapeutic advances in the management of cutaneous melanoma, and to highlight the impact of these advances on surgical decision-making.Results: Genomic testing is not required in the surgical management of primary melanoma, although it can provide useful information in some situations. Circulating nucleic acids from melanoma cells can be detected in peripheral blood to predict disease recurrence before it manifests clinically, but validation is required before routine clinical application. BRAF mutation testing is the standard of care for all patients with advanced disease to guide therapy, including the planning of surgery in adjuvant and neoadjuvant settings.Conclusion: Surgery remains central for managing primary melanoma, and is an important element of integrated multidisciplinary care in advanced disease, particularly for patients with resectable metastases. The field will undergo further change as clinical trials address the relationships between surgery, radiotherapy and systemic therapy for patients with high-risk, early-stage and advanced melanoma.

show abstract

BRAF^V600E and NRAS^Q61L/Q61R mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting

Cited by 29 publications

References 17 publications

Assessment of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in benign and malignant salivary gland neoplasms

Assessment of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in benign and malignant salivary gland neoplasms

Determination of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in borderline and low-grade ovarian cancers

Impact of genomics on the surgical management of melanoma

Contact Info

Product

Resources

About