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JAK2V617F allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis

2009; Elsevier BV; Volume: 37; Issue: 10 Linguagem: Inglês

10.1016/j.exphem.2009.07.005

1873-2399

Kais Hussein, Oliver Bock, Katharina Theophile, Nils von Neuhoff, T. Buhr, Jérôme Schlué, Guntram Büsche, Hans Kreipe,

Eosinophilic Disorders and Syndromes

ObjectiveAmong Philadelphia chromosome−negative myeloproliferative neoplasms (Ph− MPN), essential thrombocythemia (ET) and the prefibrotic phase of primary myelofibrosis (PMF) represent two subtypes with considerable overlap.Materials and MethodsIn this study, histopathological classification of 490 MPN cases was correlated with the allelic burden of JAK2V617F and MPLW515L.ResultsPh− MPN entities largely overlap with regard to JAK2V617F and MPLW515L allele burden, but ET displayed mutant allele burden 40% JAK2V617F alleles (median, 24% JAK2V617F alleles; n=90; p<0.001). Increase in JAK2V617F alleles during follow-up could not be linked to fibrosis or blastic progression but was related to polycythemic transformation in ET. MPLW515L was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPLW515L alleles; p 50% favors a diagnosis of prefibrotic PMF. 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 JAK2V617F and MPLW515L. Ph− MPN entities largely overlap with regard to JAK2V617F and MPLW515L allele burden, but ET displayed mutant allele burden 40% JAK2V617F alleles (median, 24% JAK2V617F alleles; n=90; p<0.001). Increase in JAK2V617F alleles during follow-up could not be linked to fibrosis or blastic progression but was related to polycythemic transformation in ET. MPLW515L was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPLW515L alleles; p 50% favors a diagnosis of prefibrotic PMF.