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Background: To explore the clinical features of the patients with BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of BCR-ABL1-negative MPNs patients in our center. Methods: Retrospective analysis of routine karyotype analysis results, driver gene mutations and other related clinical parameters of 172 patients with newly diagnosed BCR-ABL1-negative MPNs who were admitted to our hospital between October 2013 and June 2018. Results: (1) The rate of karyotypic abnormalities were 25, 6.3 and 2.9% in primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET) patients, respectively. (2) The mutation rate of JAK2-V617F was 62.5%, and that of the CALR, MPL and EZH2 genes was 4.2% in PMF. The mutation rates of JAK2-V617F and JAK2-12exon were 91.3 and 1.3% in PV, respectively. The mutation rates of JAK2-V617F and CALR were 69.1 and 11.8% in ET, respectively. (3) Patients with JAK2-V617F mutation than with the wild-type gene were more often female in PMF (P = 0.027); had higher peripheral blood white blood cell (WBC) counts (P = 0.006), platelet (PLT) count (P = 0.001) and splenomegaly (P < 0.05) in PV; and had higher WBC (P = 0.001), hemoglobin concentrations (P = 0.001), lower PLT (P = 0.037), splenomegaly and endogenous coagulopathy (P < 0.05) in ET. (4) Among the PV and ET patients, those with thrombus were older than those in the nonthrombotic group. Conclusion: PMF patients have more chromosomal abnormalities than PV and ET patients, and the effect of driver mutations on the clinical features of patients with MPNs differs among the three subtypes.
Lin, X., Huang, H., & Chen, P. (2020). Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms. Molecular Cytogenetics, 13(1). https://doi.org/10.1186/s13039-020-0471-z