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proLékaře.cz / Journals / Transfusion and Haematology Today / 2021 - 3

New insights into the pathophysiology of Ph-negative myeloproliferative neoplasms

Czech version

Authors: B. Kráľová;  K. Hlušičková Kapraľová;  V. Divoký;  M. Horváthová
Authors‘ workplace: Ústav bio­logie, LF UP v Olomouci
Published in: Transfuze Hematol. dnes,27, 2021, No. 3, p. 208-217.
Category: Review/Educational Papers
doi: https://doi.org/10.48095/cctahd2021208

Overview

Myeloproliferative neoplasms (MPNs) represent a group of related clonal haematological disorders with overlapping phenotypes. The main typical features are excessive production of fully differentiated myeloid cells, chronic inflammation and a tendency to transform to acute myeloid leukaemia. Clonal proliferation in MPN is driven by various somatic mutations, most notably involving Janus kinase 2 (JAK2). However, MPN phenotypic diversity cannot be explained only by cooperation of acquired driver mutations with additional somatic mutations detected in MPN patients. Indeed, MPN initiation and clinical phenotype is a product of complex interactions involving both genetic and non-genetic factors. Recently, genetic predisposition appeared as an important determinant of MPN pathophysiology, particularly of clonal expansion. This review provides insights into complex, newly emerging factors contributing to Philadelphia chromosome (Ph) -negative MPN pathobio­logy.

Keywords:

myeloproliferative neoplasms – JAK2 – CALR – MPL – genetic predisposition – MPN heterogeneity

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Labels
Haematology Internal medicine Clinical oncology
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Primář MUDr. Jiří Horák, 11. 6. 1936 – 21. 6. 2021
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