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Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia.

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Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia. / Schnittger, Susanne; Bacher, Ulrike; Haferlach, Torsten; Wendland, Nicole; Ulke, Madlen; Dicker, Frank; Grossmann, Vera; Haferlach, Claudia; Kern, Wolfgang.

In: BLOOD, Vol. 119, No. 13, 13, 2012, p. 3151-3154.

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

Harvard

Schnittger, S, Bacher, U, Haferlach, T, Wendland, N, Ulke, M, Dicker, F, Grossmann, V, Haferlach, C & Kern, W 2012, 'Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia.', BLOOD, vol. 119, no. 13, 13, pp. 3151-3154. <http://www.ncbi.nlm.nih.gov/pubmed/22331186?dopt=Citation>

APA

Schnittger, S., Bacher, U., Haferlach, T., Wendland, N., Ulke, M., Dicker, F., Grossmann, V., Haferlach, C., & Kern, W. (2012). Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia. BLOOD, 119(13), 3151-3154. [13]. http://www.ncbi.nlm.nih.gov/pubmed/22331186?dopt=Citation

Vancouver

Schnittger S, Bacher U, Haferlach T, Wendland N, Ulke M, Dicker F et al. Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia. BLOOD. 2012;119(13):3151-3154. 13.

Bibtex

@article{5606c72c571046dd87c09e8d0d26f13b,
title = "Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia.",
abstract = "The BRAFV600E mutation was recently detected in hairy cell leukemia (HCL) by whole exome sequencing. To make use of this new marker for diagnosis and follow-up of HCL, we developed a BRAFV600Emut-specific quantitative real-time PCR assay and validated it in 117 HCL patients and 102 non-HCL/BRAFwt patients. The cut-off level to discriminate BRAFV600E-positive/-negative cases was set at 0.023% BRAFV600E/BRAFwt. A total of 115 of 117 HCL (98.3%) demonstrated percentage BRAFV600E/BRAFwt above the cut-off (mean, 29.6 ± 41.1). The remaining 2 of 117 HCL with lower percentage BRAFV600E/BRAFwt ratios were also BRAFwt by deep-sequencing technology. Sixteen HCL-variant patients showed percentage BRAFV600E/BRAFwt values corresponding to {"}non-HCL.{"} Follow-up studies in 19 HCL cases demonstrated a decrease of percentage BRAFV600E/BRAFwt during therapy. The log-reductions as determined by RT-PCR and immunophenotyping correlated significantly (P < .001). In conclusion, we confirmed BRAFmut as a useful marker in HCL, its absence in HCL variant, and developed an RT-PCR-based assay to monitor minimal residual disease in HCL.",
author = "Susanne Schnittger and Ulrike Bacher and Torsten Haferlach and Nicole Wendland and Madlen Ulke and Frank Dicker and Vera Grossmann and Claudia Haferlach and Wolfgang Kern",
year = "2012",
language = "English",
volume = "119",
pages = "3151--3154",
journal = "BLOOD",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "13",

}

RIS

TY - JOUR

T1 - Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia.

AU - Schnittger, Susanne

AU - Bacher, Ulrike

AU - Haferlach, Torsten

AU - Wendland, Nicole

AU - Ulke, Madlen

AU - Dicker, Frank

AU - Grossmann, Vera

AU - Haferlach, Claudia

AU - Kern, Wolfgang

PY - 2012

Y1 - 2012

N2 - The BRAFV600E mutation was recently detected in hairy cell leukemia (HCL) by whole exome sequencing. To make use of this new marker for diagnosis and follow-up of HCL, we developed a BRAFV600Emut-specific quantitative real-time PCR assay and validated it in 117 HCL patients and 102 non-HCL/BRAFwt patients. The cut-off level to discriminate BRAFV600E-positive/-negative cases was set at 0.023% BRAFV600E/BRAFwt. A total of 115 of 117 HCL (98.3%) demonstrated percentage BRAFV600E/BRAFwt above the cut-off (mean, 29.6 ± 41.1). The remaining 2 of 117 HCL with lower percentage BRAFV600E/BRAFwt ratios were also BRAFwt by deep-sequencing technology. Sixteen HCL-variant patients showed percentage BRAFV600E/BRAFwt values corresponding to "non-HCL." Follow-up studies in 19 HCL cases demonstrated a decrease of percentage BRAFV600E/BRAFwt during therapy. The log-reductions as determined by RT-PCR and immunophenotyping correlated significantly (P < .001). In conclusion, we confirmed BRAFmut as a useful marker in HCL, its absence in HCL variant, and developed an RT-PCR-based assay to monitor minimal residual disease in HCL.

AB - The BRAFV600E mutation was recently detected in hairy cell leukemia (HCL) by whole exome sequencing. To make use of this new marker for diagnosis and follow-up of HCL, we developed a BRAFV600Emut-specific quantitative real-time PCR assay and validated it in 117 HCL patients and 102 non-HCL/BRAFwt patients. The cut-off level to discriminate BRAFV600E-positive/-negative cases was set at 0.023% BRAFV600E/BRAFwt. A total of 115 of 117 HCL (98.3%) demonstrated percentage BRAFV600E/BRAFwt above the cut-off (mean, 29.6 ± 41.1). The remaining 2 of 117 HCL with lower percentage BRAFV600E/BRAFwt ratios were also BRAFwt by deep-sequencing technology. Sixteen HCL-variant patients showed percentage BRAFV600E/BRAFwt values corresponding to "non-HCL." Follow-up studies in 19 HCL cases demonstrated a decrease of percentage BRAFV600E/BRAFwt during therapy. The log-reductions as determined by RT-PCR and immunophenotyping correlated significantly (P < .001). In conclusion, we confirmed BRAFmut as a useful marker in HCL, its absence in HCL variant, and developed an RT-PCR-based assay to monitor minimal residual disease in HCL.

M3 - SCORING: Journal article

VL - 119

SP - 3151

EP - 3154

JO - BLOOD

JF - BLOOD

SN - 0006-4971

IS - 13

M1 - 13

ER -