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Abstract
BCR-ABL negative myeloproliferative neoplasms (MPN) are a heterogeneous group of diseases that include: polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF); these disorders are characterized by stem cell-derived clonal myeloproliferation with mutually exclusive JAK2 (Janus Kinase 2), CALR (Calreticulin), and MPL (Myeloproliferative leukemia virus oncogene) “drivers” mutations. The aims of the present study were to determine the JAK2 (V617F and exon 12), CALR and MPL mutational frecuency in suspected MNP Argentinian patients; and to evaluate the haematological features at diagnosis.
Out of the 604 patients from different health care centers located in the southern region, evaluated during the last 10 years (2007 to 2017), 158 were diagnosed with PV, 191 with ET and 51 with PMF according to 2008/2016 WHO criteria. In PV, 96.8% carried JAK2V617F mutation and the remaining percentage (3.2%) was also negative for JAK2 exon 12 mutations. In ET, the mutational frequencies were JAK2V617F: 66%, CALR: 12.6%, MPL: 2.6% MPL and TN: 18.8%. In PMF, mutational frequencies were JAK2V617F: 68.6%, CALR: 9.8%, MPL: 3.9% MPL and TN: 17.7%. In ET, CALR mutations were associated with younger patients, lower hemoglobin levels, lower leucocyte counts and higher platelet counts compared to mutated JAK2, whereas in PMF patients CALR was associated with a lower leucocyte count compared to JAK-2 mutated. It is highlighted the importance of a complete molecular characterization of the entity taking into account that the mutational status correlates with the patient clinical features and prognosis.
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