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BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts

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BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts. / Schweizer, Leonille; Capper, David; Hölsken, Annett; Fahlbusch, Rudolf; Flitsch, Jörg; Buchfelder, Michael; Herold-Mende, Christel; von Deimling, Andreas; Buslei, Rolf.

In: NEUROPATH APPL NEURO, 10.2015.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schweizer, L, Capper, D, Hölsken, A, Fahlbusch, R, Flitsch, J, Buchfelder, M, Herold-Mende, C, von Deimling, A & Buslei, R 2015, 'BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts', NEUROPATH APPL NEURO. https://doi.org/10.1111/nan.12201

APA

Schweizer, L., Capper, D., Hölsken, A., Fahlbusch, R., Flitsch, J., Buchfelder, M., Herold-Mende, C., von Deimling, A., & Buslei, R. (2015). BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts. NEUROPATH APPL NEURO. https://doi.org/10.1111/nan.12201

Vancouver

Schweizer L, Capper D, Hölsken A, Fahlbusch R, Flitsch J, Buchfelder M et al. BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts. NEUROPATH APPL NEURO. 2015 Oct. https://doi.org/10.1111/nan.12201

Bibtex

@article{6122ecc8c77e428dbb79372ffaafd5c6,
title = "BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts",
abstract = "AIMS: The differential diagnosis of cystic epithelial masses of the sellar region, especially the histopathological differentiation of craniopharyngiomas and Rathke's cleft cysts, poses a challenge even to experienced diagnosticians. Recently, BRAF V600E mutations have been described as a genetic hallmark of papillary craniopharyngiomas. We investigated a series of 33 Rathke's cleft cysts to determine the frequency of BRAF V600E mutations and its suitability as an additional diagnostic marker for the differentiation of cystic lesions of the sellar region.METHODS: 33 Rathke's cleft cysts and 18 papillary craniopharyngiomas were analyzed for BRAF mutational status by immunohistochemistry using a monoclonal antibody (VE1) that selectively recognizes the BRAF V600E mutant epitope and additional BRAF pyrosequencing in a subset of samples.RESULTS: 30 of 33 specimens diagnosed as Rathke's cleft cysts were negative by VE1 immunohistochemistry and pyrosequencing, whereas in three cysts and in all the 18 papillary craniopharyngiomas a BRAF V600E mutation was detected. Clinical and histological reevaluation of the three BRAF V600E mutated cases formerly diagnosed as Rathke's cleft cysts revealed unusual presentations. Two of them were re-diagnosed as papillary craniopharyngiomas. The patient of the third case had a history of craniopharyngioma operated 14 years before and re-operation showed a cystic epithelial lesion with unclear histology.CONCLUSIONS: The determination of BRAF mutational status is recommended in any cystic sellar lesion and can in most cases be provided by VE1 immunohistochemistry even in specimens of low cellularity. Confirmation by (pyro-)sequencing should be attempted whenever sufficient epithelium is available due to variable staining results.",
author = "Leonille Schweizer and David Capper and Annett H{\"o}lsken and Rudolf Fahlbusch and J{\"o}rg Flitsch and Michael Buchfelder and Christel Herold-Mende and {von Deimling}, Andreas and Rolf Buslei",
note = "This article is protected by copyright. All rights reserved.",
year = "2015",
month = oct,
doi = "10.1111/nan.12201",
language = "English",
journal = "NEUROPATH APPL NEURO",
issn = "0305-1846",
publisher = "Wiley-Blackwell",

}

RIS

TY - JOUR

T1 - BRAF V600E analysis for the differentiation of papillary Craniopharyngiomas and Rathke's Cleft Cysts

AU - Schweizer, Leonille

AU - Capper, David

AU - Hölsken, Annett

AU - Fahlbusch, Rudolf

AU - Flitsch, Jörg

AU - Buchfelder, Michael

AU - Herold-Mende, Christel

AU - von Deimling, Andreas

AU - Buslei, Rolf

N1 - This article is protected by copyright. All rights reserved.

PY - 2015/10

Y1 - 2015/10

N2 - AIMS: The differential diagnosis of cystic epithelial masses of the sellar region, especially the histopathological differentiation of craniopharyngiomas and Rathke's cleft cysts, poses a challenge even to experienced diagnosticians. Recently, BRAF V600E mutations have been described as a genetic hallmark of papillary craniopharyngiomas. We investigated a series of 33 Rathke's cleft cysts to determine the frequency of BRAF V600E mutations and its suitability as an additional diagnostic marker for the differentiation of cystic lesions of the sellar region.METHODS: 33 Rathke's cleft cysts and 18 papillary craniopharyngiomas were analyzed for BRAF mutational status by immunohistochemistry using a monoclonal antibody (VE1) that selectively recognizes the BRAF V600E mutant epitope and additional BRAF pyrosequencing in a subset of samples.RESULTS: 30 of 33 specimens diagnosed as Rathke's cleft cysts were negative by VE1 immunohistochemistry and pyrosequencing, whereas in three cysts and in all the 18 papillary craniopharyngiomas a BRAF V600E mutation was detected. Clinical and histological reevaluation of the three BRAF V600E mutated cases formerly diagnosed as Rathke's cleft cysts revealed unusual presentations. Two of them were re-diagnosed as papillary craniopharyngiomas. The patient of the third case had a history of craniopharyngioma operated 14 years before and re-operation showed a cystic epithelial lesion with unclear histology.CONCLUSIONS: The determination of BRAF mutational status is recommended in any cystic sellar lesion and can in most cases be provided by VE1 immunohistochemistry even in specimens of low cellularity. Confirmation by (pyro-)sequencing should be attempted whenever sufficient epithelium is available due to variable staining results.

AB - AIMS: The differential diagnosis of cystic epithelial masses of the sellar region, especially the histopathological differentiation of craniopharyngiomas and Rathke's cleft cysts, poses a challenge even to experienced diagnosticians. Recently, BRAF V600E mutations have been described as a genetic hallmark of papillary craniopharyngiomas. We investigated a series of 33 Rathke's cleft cysts to determine the frequency of BRAF V600E mutations and its suitability as an additional diagnostic marker for the differentiation of cystic lesions of the sellar region.METHODS: 33 Rathke's cleft cysts and 18 papillary craniopharyngiomas were analyzed for BRAF mutational status by immunohistochemistry using a monoclonal antibody (VE1) that selectively recognizes the BRAF V600E mutant epitope and additional BRAF pyrosequencing in a subset of samples.RESULTS: 30 of 33 specimens diagnosed as Rathke's cleft cysts were negative by VE1 immunohistochemistry and pyrosequencing, whereas in three cysts and in all the 18 papillary craniopharyngiomas a BRAF V600E mutation was detected. Clinical and histological reevaluation of the three BRAF V600E mutated cases formerly diagnosed as Rathke's cleft cysts revealed unusual presentations. Two of them were re-diagnosed as papillary craniopharyngiomas. The patient of the third case had a history of craniopharyngioma operated 14 years before and re-operation showed a cystic epithelial lesion with unclear histology.CONCLUSIONS: The determination of BRAF mutational status is recommended in any cystic sellar lesion and can in most cases be provided by VE1 immunohistochemistry even in specimens of low cellularity. Confirmation by (pyro-)sequencing should be attempted whenever sufficient epithelium is available due to variable staining results.

U2 - 10.1111/nan.12201

DO - 10.1111/nan.12201

M3 - SCORING: Journal article

C2 - 25442675

JO - NEUROPATH APPL NEURO

JF - NEUROPATH APPL NEURO

SN - 0305-1846

ER -