Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie.

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Date of download: 5/29/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Myeloproliferative Neoplasms: A Contemporary Review.

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Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert The Journal of Molecular Diagnostics Volume 19, Issue 1, Pages 92-98 (January 2017) DOI: 10.1016/j.jmoldx.2016.08.006 Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Mutational profiles of myeloproliferative neoplasm–diagnosed patients. ET, essential thrombocythemia; PMF, primary myelofibrosis; PV, polycythemia vera. The Journal of Molecular Diagnostics 2017 19, 92-98DOI: (10.1016/j.jmoldx.2016.08.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 JAK2 V617F allelic burden distribution. Each circle represents one JAK2 V617F mutation case. Diamonds represent patients in whom JAK2 V617F mutation is associated with CALR or MPL mutation. The Journal of Molecular Diagnostics 2017 19, 92-98DOI: (10.1016/j.jmoldx.2016.08.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 High-resolution melting (HRM) and sequencing results. A: CALR HRM analysis. c1 and c2 curves correspond to type 1 and type 2 CALR mutation controls, respectively; wt curve, wild-type control. B: MPL HRM analysis. c curve corresponds to W515L mutation control; wt curve, wild-type control. C: W515L mutation case detected by HRM analysis but in which sequencing needed TA Cloning (Thermo Fisher Scientific), as presented in D (before cloning) and E (after cloning). The asterisks indicate the locations of the point mutations. The Journal of Molecular Diagnostics 2017 19, 92-98DOI: (10.1016/j.jmoldx.2016.08.006) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions