JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis

Among Philadelphia chromosome-negative myeloproliferative neoplasms (Ph(-) MPN), essential thrombocythemia (ET) and the prefibrotic phase of primary myelofibrosis (PMF) represent two subtypes with considerable overlap. In this study, histopathological classification of 490 MPN cases was correlated w...

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Bibliographic Details
Published in:Experimental hematology 2009-10, Vol.37 (10), p.1186
Main Authors: Hussein, Kais, Bock, Oliver, Theophile, Katharina, von Neuhoff, Nils, Buhr, Thomas, Schlué, Jerome, Büsche, Guntram, Kreipe, Hans
Format: Article
Language:English
Subjects:
Alleles
Biomarkers
Bone Marrow - pathology
Diagnosis, Differential
Disease Progression
Fibrosis
Follow-Up Studies
Humans
Janus Kinase 2 - genetics
Mutation, Missense
Point Mutation
Polycythemia Vera - classification
Polycythemia Vera - diagnosis
Polycythemia Vera - genetics
Polycythemia Vera - pathology
Primary Myelofibrosis - classification
Primary Myelofibrosis - diagnosis
Primary Myelofibrosis - genetics
Primary Myelofibrosis - pathology
Receptors, Thrombopoietin - genetics
Thrombocythemia, Essential - classification
Thrombocythemia, Essential - diagnosis
Thrombocythemia, Essential - genetics
Thrombocythemia, Essential - pathology
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Summary:Among Philadelphia chromosome-negative myeloproliferative neoplasms (Ph(-) MPN), essential thrombocythemia (ET) and the prefibrotic phase of primary myelofibrosis (PMF) represent two subtypes with considerable overlap. In this study, histopathological classification of 490 MPN cases was correlated with the allelic burden of JAK2(V617F) and MPL(W515L). Ph(-) MPN entities largely overlap with regard to JAK2(V617F) and MPL(W515L) allele burden, but ET displayed mutant allele burden 40% JAK2(V617F) alleles (median, 24% JAK2(V617F) alleles; n=90; p
ISSN:1873-2399
DOI:10.1016/j.exphem.2009.07.005