Detection of BRAF V600E Mutation in Langerhans Cell Histiocytosis Using High-resolution Melting Analysis in Decalcified, Paraffin-embedded Tissue

Fu, Bin

doi:10.4172/2329-6917.1000101

Cited by 2 publications

(2 citation statements)

References 10 publications

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“…Particularly in the clinical scenario where the bony decalcified specimen is the only available specimen for a patient who is reluctant to undergo an additional procedure to obtain tissue, knowledge that less harsh decalcification treatments were used can justify attempts at molecular testing. As technologies continue to improve, some groups 10,11 have reported successful molecular testing with decalcified specimens. This also underscores the importance of documenting the type of decalcification treatment used in anatomic pathology reports.…”

Section: Methods For Management Of Alternative Specimensmentioning

confidence: 99%

Do More With Less: Tips and Techniques for Maximizing Small Biopsy and Cytology Specimens for Molecular and Ancillary Testing: The University of Colorado Experience

Aisner¹,

Rumery²,

Merrick³

et al. 2016

Archives of Pathology &Amp; Laboratory Medicine

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Context In an era in which testing of patient tumor material for molecular and other ancillary studies is of increasing clinical importance for selection of therapy, the ability to test on small samplings becomes critical. Often, small samplings are rapidly depleted in the diagnostic workup or are insufficient for multiple ancillary testing approaches. Objective To describe technical methodologies that can be implemented to preserve and maximize tissue for molecular and other ancillary testing. Data Sources Retrospective analysis of a case cohort from the University of Colorado, description of techniques used at the University of Colorado, and published literature. Conclusions Numerous techniques can be deployed to maximize molecular and other ancillary testing, even when specimens are from small samplings. A dedicated process for molecular prioritization has a high success rate, but also increases workload, which must be factored into establishing such a process. Additionally, establishing high-fidelity communication strings is critical for success of dedicated molecular prioritization of samples. Numerous approaches can be deployed for alternative specimen types, and several technical approaches can also aid in maximizing small specimens.

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Section: Methods For Management Of Alternative Specimensmentioning

confidence: 99%

Do More With Less: Tips and Techniques for Maximizing Small Biopsy and Cytology Specimens for Molecular and Ancillary Testing: The University of Colorado Experience

Aisner¹,

Rumery²,

Merrick³

et al. 2016

Archives of Pathology &Amp; Laboratory Medicine

View full text Add to dashboard Cite

show abstract

“…Two different methods were utilized for BRAF status determination: (i) cobas ® 4800 BRAF V600 Mutation Test and (ii) High Resolution Melting (HRM) Assay [ 22 ], which was further validated with two tests: pyrosequencing of BRAF exon 15 and immunohistochemistry (IHC) with anti-BRAF V600E (VE1) Mouse Monoclonal Primary Antibody (Ventana). Out of 173 FFPE samples, 126 were tested with cobas ® 4800 BRAF V600 Mutation Test according to the protocol provided by the manufacturer.…”

Section: Methodsmentioning

confidence: 99%

Oncogenic BRAF mutations and p16 expression in melanocytic nevi and melanoma in the Polish population

Mackiewicz-Wysocka

Czerwińska

Filas

et al. 2017

pdia

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IntroductionTwenty-five – fifty percent of skin melanomas arise from nevi. Melanocyte proliferation is activated by BRAF V600E, then is arrested, but single nevi transform to melanomas. p16 controls arrest, and p16 loss may promote transformation.AimTo analyze BRAF V600E, p16 expression and melanocyte proliferation in dermal, compound and dysplastic nevi, cells of primary and metastatic melanoma in the Polish population.Material and methodsOne hundred and thirty-two nevi (dermal, compound, dysplastic) and 41 melanomas (in situ, primary, metastatic) were studied. BRAF was assessed by cobas® 4800 BRAFV600 Mutation Test, High Resolution Melting Assay validated with: pyrosequencing and immunohistochemistry. p16 and Ki67 expression was analyzed by IHC.ResultsEighty-two percent of nevi and 57% of melanomas display BRAF V600E expression. Most dermal and compound nevi had > 50% of p16(+) cells. BRAF V600E dysplastic nevi had a low number of p16(+) cells. Nevi without BRAF V600E (WT), had 90% of cells p16(+). In 60% of in situ and primary melanomas, there was a low number of cells of p16(+). Fifty percent of WT metastatic melanoma and 33% of BRAF V600E showed a high level of p16. The number of Ki67(+) cells in dysplastic nevi was very low. In 25% of BRAF V600E melanomas in situ and 55% of WT, > 10% cells were Ki67(+). All BRAF V600E primary melanomas and 66% of WT had > 10% Ki67(+) cells. Twenty percent of BRAF V600E and WT metastases had > 10% of Ki67(+), however, 62% of BRAF V600E and 32% of WT samples had > 50% of Ki67(+) cells.ConclusionsBRAFV600E and p16 are more frequent in nevi than in melanoma in vivo. A significantly higher p16 expression was observed in mutated nevi than in WT, while in melanoma it was just the opposite. The proliferation rate of melanoma cells negatively correlated with p16 expression.

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Detection of BRAF V600E Mutation in Langerhans Cell Histiocytosis Using High-resolution Melting Analysis in Decalcified, Paraffin-embedded Tissue

Cited by 2 publications

References 10 publications

Do More With Less: Tips and Techniques for Maximizing Small Biopsy and Cytology Specimens for Molecular and Ancillary Testing: The University of Colorado Experience

Do More With Less: Tips and Techniques for Maximizing Small Biopsy and Cytology Specimens for Molecular and Ancillary Testing: The University of Colorado Experience

Oncogenic BRAF mutations and p16 expression in melanocytic nevi and melanoma in the Polish population

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