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, Jahrgang 119, Nr. 13, 13, 2012, S. 3151-3154.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -