Top

Published in:

01-06-2020 | Primary Myelofibrosis | Letter to the editor

Does the order of mutational acquisition in myeloproliferative neoplasms matter? Evidence from JAK2 exon 12 and DNMT3A co-mutant polycythemia vera

Authors: Rumyana Todorova, Jakob Passweg, Pontus Lundberg, Alexandar Tzankov

Published in: Journal of Hematopathology | Issue 2/2020

Excerpt

Myeloproliferative neoplasms (MPN) have in common an abnormal clonal expansion of differentiated hematopoietic cells in the bone marrow (BM), usually accompanied by excessive production of progenies leading to numeric blood cell increase. Three classical MPN types are recognized—polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). …

Vainchenker W, Kralovics R (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood 129:667–679CrossRef

Scott LM, Thong W, Levine RL et al (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356:459–468CrossRef

Butcher CM, Hahn U, To LB et al (2008) Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia 22:870–873CrossRef

Barbui T, Thiele J, Gisslinger H et al (2018) The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J 8:15CrossRef

Stegelmann F, Bullinger L, Schlenk RF, Paschka P, Griesshammer M, Blersch C, Kuhn S, Schauer S, Döhner H, Döhner K (2011) DNMT3A mutations in myeloproliferative neoplasms. Leukemia 25:1217–1219CrossRef

Brunetti L, Gundry MC, Goodell MA (2017) DNMT3A in leukemia. Cold Spring Harb Perspect Med 7. https://doi.org/10.1101/cshperspect.a030320 CrossRef

Percy MJ, Scott LM, Erber WN, Harrison CN, Reilly JT, Jones FG, Green AR, McMullin M (2007) The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica 92:1607–1614CrossRef

Jacquelin S, Straube J, Cooper L, Vu T, Song A, Bywater M, Baxter E, Heidecker M, Wackrow B, Porter A, Ling V, Green J, Austin R, Kazakoff S, Waddell N, Hesson LB, Pimanda JE, Stegelmann F, Bullinger L, Döhner K, Rampal RK, Heckl D, Hill GR, Lane SW (2018) Jak2V617F and Dnmt3a loss cooperate to induce myelofibrosis through activated enhancer-driven inflammation. Blood 132:2707–2721CrossRef

Nangalia J, Nice FL, Wedge DC, Godfrey AL, Grinfeld J, Thakker C, Massie CE, Baxter J, Sewell D, Silber Y, Campbell PJ, Green AR (2015) DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype. Haematologica 100:e438–e442CrossRef

Title: Does the order of mutational acquisition in myeloproliferative neoplasms matter? Evidence from JAK2 exon 12 and DNMT3A co-mutant polycythemia vera
Authors: Rumyana Todorova
Jakob Passweg
Pontus Lundberg
Alexandar Tzankov
Publication date: 01-06-2020
Publisher: Springer Berlin Heidelberg
Keywords: Primary Myelofibrosis
Neutrophilia
Primary Myelofibrosis
Published in: Journal of Hematopathology / Issue 2/2020
Print ISSN: 1868-9256
Electronic ISSN: 1865-5785
DOI: https://doi.org/10.1007/s12308-020-00392-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Does the order of mutational acquisition in myeloproliferative neoplasms matter? Evidence from JAK2 exon 12 and DNMT3A co-mutant polycythemia vera

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 2/2020

Molecular spectrum and distribution of hemoglobinopathies in southwest of Iran: a seven-year retrospective study

Immunophenotypic and molecular analysis of a B cell lymphoma with discordant light chain expression at different anatomic sites

Reticulocyte count and its parameters: comparison of automated analyzers, flow cytometry, and manual method

COVID-19 and remembering Professor Dennis H. Wright

Enumeration of CD34+ blasts by immunohistochemistry in bone marrow biopsies from MDS patients may have significant impact on final WHO classification

Histoplasma capsulatum in peripheral blood neutrophils