Effect of Mutation Order on Myeloproliferative Neoplasms

The Biological Influence of Mutation Order on Myeloproliferative Neoplasms

*Christina A. Ortmann, M.D., *David G. Kent, Ph.D., Jyoti Nangalia, M.B.Chir., F.R.C.Path., Yvonne Silber, M.Sc., David C. Wedge, Ph.D., Jacob Grinfeld, M.B., Ch.B., F.R.C.Path., E. Joanna Baxter, Ph.D., Charles E. Massie, Ph.D., Elli Papaemmanuil, Ph.D., Suraj Menon, Ph.D., Anna L. Godfrey, F.R.C.Path., Ph.D., Danai Dimitropoulou, B.Sc., Paola Guglielmelli, M.D., Ph.D., Beatriz Bellosillo, Ph....

CALR mutation characterization in myeloproliferative neoplasms

Identification of somatic frameshift mutations in exon 9 of the calreticulin gene (CALR) in myeloproliferative neoplasms (MPNs) in December of 2013 has been a remarkable finding. It has provided a new molecular diagnostic marker, particularly in essential thrombocythemia (ET) and primary myelofibrosis (PMF), where is the second most common altered gene after JAK2V617F. There are two main types ...

Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.

Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 17...

Effects of Mutational Combinations on Philadelphia-Negative Myeloproliferative Neoplasms

Myeloproliferative Neoplasms Associated with Mutation in JAK2V617F and Tyrosine Kinase Inhibitors as Therapeutic Strategy

MPNs including a heterogeneous group of clonal or oligoclonal hamtopathies characterized by proliferation and accumulation of mature myeloid cells. JAK2 tyrosine kinase mutation is the most common molecular lesion identified in 90% of cases. JAK2 is involved in EPO signaling pathway, and mutations in it lead to EPO-independent spontaneous phosphorylation. Most tyrosine kinase inhibitors (TKI) a...