Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms

作者: Thomas Frawley , Cathal P. O'Brien , Eibhlin Conneally , Elisabeth Vandenberghe , Melanie Percy

DOI: 10.1089/GTMB.2017.0203

关键词:

摘要: Background: The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heteroge...

参考文章(29)
Jerald Z. Gong, James R. Cook, Timothy C. Greiner, Cyrus Hedvat, Charles E. Hill, Megan S. Lim, Janina A. Longtine, Daniel Sabath, Y. Lynn Wang, Laboratory Practice Guidelines for Detecting and Reporting JAK2 and MPL Mutations in Myeloproliferative Neoplasms : A Report of the Association for Molecular Pathology The Journal of Molecular Diagnostics. ,vol. 15, pp. 733- 744 ,(2013) , 10.1016/J.JMOLDX.2013.07.002
Stephen E. Langabeer, Hajnalka Andrikovics, Julia Asp, Beatriz Bellosillo, Serge Carillo, Karl Haslam, Lasse Kjaer, Eric Lippert, Olivier Mansier, Elisabeth Oppliger Leibundgut, Melanie J. Percy, Naomi Porret, Lars Palmqvist, Jiri Schwarz, Mary F. McMullin, Susanne Schnittger, Niels Pallisgaard, Sylvie Hermouet, , Molecular diagnostics of myeloproliferative neoplasms European Journal of Haematology. ,vol. 95, pp. 270- 279 ,(2015) , 10.1111/EJH.12578
Robert Kralovics, Francesco Passamonti, Andreas S. Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R. Passweg, Andre Tichelli, Mario Cazzola, Radek C. Skoda, A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders The New England Journal of Medicine. ,vol. 352, pp. 1779- 1790 ,(2005) , 10.1056/NEJMOA051113
Ayalew Tefferi, Animesh Pardanani, Genetics: CALR mutations and a new diagnostic algorithm for MPN. Nature Reviews Clinical Oncology. ,vol. 11, pp. 125- 126 ,(2014) , 10.1038/NRCLINONC.2014.16
Amy V. Jones, Daniel Ward, Matthew Lyon, William Leung, Alison Callaway, Andrew Chase, Carolyn L. Dent, Helen E. White, Hans G. Drexler, Jyoti Nangalia, Chris Mattocks, Nicholas C.P. Cross, Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms. Leukemia Research. ,vol. 39, pp. 82- 87 ,(2015) , 10.1016/J.LEUKRES.2014.11.019
Linda M. Scott, The JAK2 exon 12 mutations: a comprehensive review. American Journal of Hematology. ,vol. 86, pp. 668- 676 ,(2011) , 10.1002/AJH.22063
Pontus Lundberg, Axel Karow, Ronny Nienhold, Renate Looser, Hui Hao-Shen, Ina Nissen, Sabine Girsberger, Thomas Lehmann, Jakob Passweg, Martin Stern, Christian Beisel, Robert Kralovics, Radek C. Skoda, Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms Blood. ,vol. 123, pp. 2220- 2228 ,(2014) , 10.1182/BLOOD-2013-11-537167
Karl Haslam, Stephen E. Langabeer, Karen Molloy, Mary F. McMullin, Eibhlin Conneally, Assessment of CALR mutations in myelofibrosis patients, post‐allogeneic stem cell transplantation British Journal of Haematology. ,vol. 166, pp. 800- 802 ,(2014) , 10.1111/BJH.12904
Ross L. Levine, Martha Wadleigh, Jan Cools, Benjamin L. Ebert, Gerlinde Wernig, Brian J.P. Huntly, Titus J. Boggon, Iwona Wlodarska, Jennifer J. Clark, Sandra Moore, Jennifer Adelsperger, Sumin Koo, Jeffrey C. Lee, Stacey Gabriel, Thomas Mercher, Alan D’Andrea, Stefan Fröhling, Konstanze Döhner, Peter Marynen, Peter Vandenberghe, Ruben A. Mesa, Ayalew Tefferi, James D. Griffin, Michael J. Eck, William R. Sellers, Matthew Meyerson, Todd R. Golub, Stephanie J. Lee, D. Gary Gilliland, Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. ,vol. 7, pp. 387- 397 ,(2005) , 10.1016/J.CCR.2005.03.023