Abstract
The identification of mutually exclusive somatic mutations shared among myeloproliferative neoplasm (MPN) subtypes has provided a powerful tool for studying disease evolution. Clinical features, gene mutations, and survival over 18 years were analyzed in MPN patients. One hundred thirty-eight MPN patients were subcategorized according to MPN subtypes: essential thrombocythemia (ET, n = 41), polycythemia vera (PV, n = 56), primary myelofibrosis (PMF, n = 10), and MPN unclassified (MPN-U, n = 31). Patient characteristics included clinical parameters, overall survival (OS), and mutational status of the Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) genes. We compared hematologic and clinical features of JAK2V617F-ET vs. CALR-mutated ET vs. JAK2V617F-PV patients. JAK2V617F-patients had higher values of erythrocytes, hemoglobin, and hematocrit compared to CALR-mutated patients (p < 0.05). The mutant allele burden in JAK2V617F-PV and JAK2V617F-ET patients directly correlated with erythrocyte, hemoglobin, and hematocrit values, but it inversely correlated with platelet count. Thus, mutant allele burden was an indicator of the clinical phenotype in JAK2V617F-MPN patients. OS was not affected by the mutational status. In general, mutated JAK2, CALR, and MPL genes left specific hematological signatures.
Highlights
Myeloproliferative neoplasms (MPNs) are a group of clonal myeloid disorders that affect normal blood cell production in the bone marrow [1,2,3]
JAK2V617F mutation was found in 71% of all MPN patients (Table S1); CALR mutations, type 1 and 2, were detected in 13% of all MPN patients; myeloproliferative leukemia virus oncogene (MPL) mutations, type 1 (W515L) and type 2 (W515K), were found in 4% of all MPN patients
Since polycythemia vera (PV) and essential thrombocythemia (ET) patients share JAK2V617F mutation, we compared the clinical parameters among JAK2V617F ET vs. JAK2V617F PV patients; we found that red blood cell (RBC), Hb, and Hct values were higher in PV patients, but platelet count values were lower; the frequency of splenomegaly was higher (p < 0.001)
Summary
Myeloproliferative neoplasms (MPNs) are a group of clonal myeloid disorders that affect normal blood cell production in the bone marrow [1,2,3]. According to the 2016 revision of the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, MPNs are categorized into chronic myeloid leukemia (BCR-ABL1 positive), polycythemia vera (PV), primary myelofibrosis (PMF, prefibrotic/early and overt fibrotic stage), essential thrombocythemia (ET), chronic eosinophilic leukemia (CEL), chronic neutrophilic leukemia
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