Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14.

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

Inmaculada Rapado, Silvia Grande, Enriqueta Albizua, Rosa Ayala, José-Angel Hernández, Miguel Gallardo, Florinda Gilsanz, Joaquin Martinez-Lopez, High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations The Journal of Molecular Diagnostics. ,vol. 11, pp. 155- 161 ,(2009) , 10.2353/JMOLDX.2009.080110

Elias Campo, N Lee Harris, Elaine S Jaffe, Stefano A Pileri, Harald Stein, Jurgen Thiele, James W Vardiman, None, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues ,(2017)

T Barbui, J Thiele, A M Vannucchi, A Tefferi, Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis Blood Cancer Journal. ,vol. 5, ,(2015) , 10.1038/BCJ.2015.64

L Wang, S I Swierczek, L Lanikova, S J Kim, K Hickman, K Walker, K Wang, J Drummond, H Doddapaneni, J G Reid, D M Muzny, R A Gibbs, D A Wheeler, J T Prchal, The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. ,vol. 28, pp. 938- 941 ,(2014) , 10.1038/LEU.2014.20

Anna L. Godfrey, Edwin Chen, Francesca Pagano, Christina A. Ortmann, Yvonne Silber, Beatriz Bellosillo, Paola Guglielmelli, Claire N. Harrison, John T. Reilly, Frank Stegelmann, Fontanet Bijou, Eric Lippert, Mary F. McMullin, Jean-Michel Boiron, Konstanze Döhner, Alessandro M. Vannucchi, Carlos Besses, Peter J. Campbell, Anthony R. Green, JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone Blood. ,vol. 120, pp. 2704- 2707 ,(2012) , 10.1182/BLOOD-2012-05-431791

C Cleyrat, J Jelinek, F Girodon, M Boissinot, T Ponge, J-L Harousseau, J-P Issa, S Hermouet, JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5. Leukemia. ,vol. 24, pp. 1069- 1073 ,(2010) , 10.1038/LEU.2010.23

Àgueda Ancochea, Alberto Álvarez-Larrán, Cristian Morales-Indiano, Francesc García-Pallarols, Luz Martínez-Avilés, Anna Angona, Alicia Senín, Beatriz Bellosillo, Carles Besses, The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. British Journal of Haematology. ,vol. 167, pp. 411- 417 ,(2014) , 10.1111/BJH.13047

Mary F. McMullin, D. Bareford, P. Campbell, A. R. Green, Claire Harrison, Beverley Hunt, D. Oscier, M. I. Polkey, J. T. Reilly, E. Rosenthal, Kate Ryan, T. C. Pearson, Bridget Wilkins, , Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis British Journal of Haematology. ,vol. 130, pp. 174- 195 ,(2005) , 10.1111/J.1365-2141.2005.05535.X

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J. Zhang, Srdan Verstovsek, Maher Albitar, Mutation Profile of JAK2 Transcripts in Patients with Chronic Myeloproliferative Neoplasias The Journal of Molecular Diagnostics. ,vol. 11, pp. 49- 53 ,(2009) , 10.2353/JMOLDX.2009.080114