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ASXL1 mutations in Chinese patients with essential thrombocythemia

  • Authors:
    • Yan‑Bo Nie
    • Meng Sun
    • Colin K. He
    • Man‑Kai Ju
    • Fu‑Ling Zhou
    • San‑Yun Wu
    • Yi Zhou
    • Li Liu
    • Hui Shen
    • Ting‑Ting Huang
    • Pan Liu
    • Ying Xu
    • Liang Shao
    • Xue‑Lan Zuo

  • View Affiliations

  • Published online on: March 9, 2018     https://doi.org/10.3892/etm.2018.5939
  • Pages: 4149-4156

  • Copyright: © Nie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Essential thrombocythemia (ET) is characterized by thrombotic and hemorrhagic events. The association of clinical characteristics of Chinese ET patients and additional sex combs like 1 (ASXL1) mutations in these patients has remained to be elucidated. In the present study, 72 newly diagnosed Chinese ET patients were enrolled to determine ASXL1 mutations. Mutations in ASXL1, Janus kinase (JAK)2, calreticulin (CALR) and myeloproliferative leukemia (MPL) genes were detected using Sanger sequencing, and data were statistically analyzed. The frequencies of ASXL1, JAK2 V617F, CALR and MPL W515 mutations in ET patients were 19.4% (14/72), 29.2% (21/72), 31.9% (23/72) and 0% (0/72), respectively. Of note, 28 ET patients (38.9%) were negative for JAK2, CALR and MPL mutations; these patients were classified as triple‑negative (TN). The frequency of ASXL1 mutations in patients with JAK2 V617F, CALR and TN mutations was 23.8% (5/21), 21.7% (5/23) and 14.3% (4/28), respectively. ASXL1‑mutant patients exhibited significant propensities for thrombotic events compared with the ASXL1 wild‑type (wt) cohort (42.9 vs. 12.1%; P=0.021). In addition, JAK2 V617F‑mutant patients had a higher mean age compared with CALR‑mutant (64.76 vs. 52.96 years; P=0.008) or TN patients (64.76 vs. 51.14 years; P=0.002). Furthermore, more white blood cells in the peripheral blood (PB) were observed in JAK2 V617F‑mutant patients compared with those in TN patients (12.40 vs. 8.20x109/l; P=0.02). In addition, CALR‑mutant patients exhibited more platelets (PLT) in PB than JAK2 V617F‑mutant patients (787.91 vs. 562.17x109/l; P=0.047). TN patients had a significantly lower incidence of clinical symptoms, including dizziness, palpitation and chest congestion compared with CALR‑ or JAK2 V617F‑mutant patients (14.1 vs. 39.1%; P=0.043 and 14.1 vs. 38.1%; P=0.050). No significant difference in progression‑free survival was observed between ASXL1‑mutant and ASXL1‑wt patients (P=0.590). In conclusion, ASXL1‑mutant ET patients are prone to experiencing thrombotic events. There was no significant difference in the occurrence of thrombotic events among CARL‑mutant, JAK2 V617F‑mutant and TN patients. Furthermore, ASXL1‑mutant/TN patients exhibited a higher number of PLT than ASXL1/JAK2 V617F‑double mutant patients. Therefore, ASXL1 mutations may be a risk factor for the occurrence of thrombotic events in ET patients.
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May-2018
Volume 15 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Nie YB, Sun M, He CK, Ju MK, Zhou FL, Wu SY, Zhou Y, Liu L, Shen H, Huang TT, Huang TT, et al: ASXL1 mutations in Chinese patients with essential thrombocythemia. Exp Ther Med 15: 4149-4156, 2018
APA
Nie, Y., Sun, M., He, C.K., Ju, M., Zhou, F., Wu, S. ... Zuo, X. (2018). ASXL1 mutations in Chinese patients with essential thrombocythemia. Experimental and Therapeutic Medicine, 15, 4149-4156. https://doi.org/10.3892/etm.2018.5939
MLA
Nie, Y., Sun, M., He, C. K., Ju, M., Zhou, F., Wu, S., Zhou, Y., Liu, L., Shen, H., Huang, T., Liu, P., Xu, Y., Shao, L., Zuo, X."ASXL1 mutations in Chinese patients with essential thrombocythemia". Experimental and Therapeutic Medicine 15.5 (2018): 4149-4156.
Chicago
Nie, Y., Sun, M., He, C. K., Ju, M., Zhou, F., Wu, S., Zhou, Y., Liu, L., Shen, H., Huang, T., Liu, P., Xu, Y., Shao, L., Zuo, X."ASXL1 mutations in Chinese patients with essential thrombocythemia". Experimental and Therapeutic Medicine 15, no. 5 (2018): 4149-4156. https://doi.org/10.3892/etm.2018.5939