AI Article Synopsis
- The study investigates gene mutations in non-chronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), focusing on three classic subtypes: polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF).
- JAK2 was consistently mutated across all MPN types, with 100% in PV, 66% in ET, and 68% in MF, highlighting its significance in these conditions.
- High rates of ASXL1 mutations were observed specifically in MF patients (20%), while mutations in other genes like CBL, DNMT3A, and others were rare or absent in the MPN cohort studied.
Article Abstract
Since the discovery of the JAK2V617F tyrosine kinase-activating mutation several genes have been found mutated in nonchronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), which mainly comprise three subtypes of "classic" MPNs; polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 "classic" MPNs cases. JAK2 was mutated in 100% PV, 66% ET and 68% MF. We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients. Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).
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| http://dx.doi.org/10.1002/gcc.21960 | DOI Listing |
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