Genetic Characterization of Myeloproliferative Neoplasms in Guatemala

Philadelphia chromosome positive patients are classified as Chronic Myeloid Leukemia, and the negative patients are included among the myeloproliferative neoplasms (MPNs). The myeloproliferative neoplasms are a heterogeneous group of diseases characterized by increased proliferation of the erythroid, megakaryocytic or myeloid lineages. Among MPNs, three diseases are included: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2 V617F mutation is a molecular marker common in MPNs, and is caused by a G>T mutation in exon 14 [The World Health Organization (WHO) has included the detection of JAK2 V617F as a criterion for the diagnosis of MPNs. The exon 12 JAK2 mutations have been found in JAK2 V617F PV negative patients. And exon 10 MPL gene mutations have been associated with ET and PMF, with the most common mutations being W515L and W515K.