Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation by Enrico Tiacci, Gianluca Schiavoni, Francesco Forconi,

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Presentation transcript:

Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation by Enrico Tiacci, Gianluca Schiavoni, Francesco Forconi, Alessia Santi, Livio Trentin, Achille Ambrosetti, Debora Cecchini, Elisa Sozzi, Paola Francia di Celle, Cristiana Di Bello, Alessandro Pulsoni, Robin Foà, Giorgio Inghirami, and Brunangelo Falini Blood Volume 119(1):192-195 January 5, 2012 ©2012 by American Society of Hematology

Flow cytometry and AS-PCR assays in HCL and HCL-like disorders. Flow cytometry and AS-PCR assays in HCL and HCL-like disorders. (Top panel) Flow cytometry dot plots of a whole-blood sample subjected to RBC lysis from a representative HCL patient (top graphs) and of purified peripheral blood leukemic cells from a representative patient with HCL-v (bottom graphs). HCL cells (CD19+/CD25+ red events in the top right panel) represent 2% of all nucleated cells (CD45+ black events in the top left panel). HCL-v cells (CD19+/CD25− and CD19+/CD103+ red events in the bottom left and right panels, respectively) represent 92% of all cells. (Bottom panel) Conventional agarose-gel electrophoresis of samples from 13 HCL patients (top panels; 12 pretreatment, 1 with residual disease after treatment) and 16 HCL-like patients (bottom gels; 6 SLLU, 10 SMZL), after AS-PCR for the mutant allele (1st and 3rd gel from the top) and for the wild-type allele (2nd and 4th gel from the top). In the top-most gels, serial dilutions of mutated and wild-type alleles (from 3.1% to 0% muted alleles) are also included to show the analytical sensitivity of the mutant AS-PCR (≥ 0.1% mutated alleles). All HCL samples gave rise to a mutant BRAF-V600E band as opposed to none of the HCL-like samples. One of the latter (SMZL case 30), which did not give rise to the wild-type band either, was not evaluable in this particular experiment (shown on purpose), but on repetition turned out to be evaluable (ie, strong wild-type band) and negative for BRAF-V600E (ie, mutant band not visible). To facilitate the visualization of the results, the gel lane of HCL case 13 was repositioned in the 2 top gels and the gel lane of the 50-bp DNA ladder was repositioned in the 2 bottom gels. Enrico Tiacci et al. Blood 2012;119:192-195 ©2012 by American Society of Hematology