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Molecular genetic evaluation of myeloproliferative neoplasms
Author(s) -
Azzato E. M.,
Bagg A.
Publication year - 2015
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12353
Subject(s) - polycythemia vera , essential thrombocythemia , myelofibrosis , chronic myelogenous leukemia , janus kinase 2 , myeloproliferative disorders , myeloproliferative neoplasm , medicine , cancer research , abl , tyrosine kinase , mutation , leukemia , biology , genetics , gene , bone marrow , receptor
Summary The classical myeloproliferative neoplasms ( MPN s) consist of chronic myelogenous leukemia ( CML ) and the non‐ CML MPN s, polycythemia vera ( PV ), essential thrombocythemia ( ET ), and primary myelofibrosis ( PMF ). Molecular testing plays a crucial role in each of these disease entities. In this review, we discuss the role and caveats of BCR ‐ ABL 1 fusion transcript evaluation in CML diagnosis and monitoring, as well as ABL 1 kinase mutation testing in the setting of tyrosine kinase inhibitor resistance. We also focus on JAK 2 , MPL , and CALR mutations in PV , ET , and PMF .