Open Access

Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

  • Authors:
    • Liying Ji
    • Mengyao Qian
    • Nana Wu
    • Jianmin Wu
  • View Affiliations

  • Published online on: January 23, 2017     https://doi.org/10.3892/etm.2017.4077
  • Pages: 947-951
  • Copyright: © Ji et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of this study was to analyze the mutation rate of JAK2V617F, MPLW515L/K and CALR genes in adult patients with essential thrombocythemia (ET) and the accuracy of the combined detection by the receiver operating curve. Three hundred and forty-two cases with high-platelets (≥300x109/l) were consecutively selected. The patients were analyzed for routine blood examination, bone marrow biopsy and genetic testing. One hundred and fifty-four cases (45.03%) were diagnosed with ET and 188 cases of secondary thrombocythemia according to the hematopoietic and lymphoid tissue tumor classification standards of 2008. It was found that the mutant type of three genes showed three bands, whereas only one band for wild-type. The JAK2V617F and MPL mutations did not cause a change in the open reading frame and the CALR mutation resulted in its change. The mutation rate of JAK2V617F and CALR in ET group was significantly higher than that in the secondary thrombocythemia group (p<0.05). The positive mutation rate of MPL was only 4.55%. JAK2V617F‑positive mutation alone was used to diagnose with ET. The area under the curve (AUC) was 0.721. The sensitivity was 72.4%, the specificity was 79.5% and the cut-off value was 0.25. When CALR‑positive mutation alone was used to diagnose ET, the AUC, sensitivity, specificity and cut-off value were 0.664, 68.4, 82.4 and 0.09%, respectively. JAK2V617F combined with CALR mutation were used for diagnosis of ET. The AUC was 0.862, the sensitivity was 85.9%, the specificity was 87.8%, and the cut-off values were 0.21 and 0.07. In conclusion, the positive mutation rate of JAK2V617F and CALR in ET was higher, and the sensitivity, specificity and accuracy of the diagnosis of ET were significantly improved using the detection of JAK2V617F and CALR.
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March-2017
Volume 13 Issue 3

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Online ISSN:1792-1015

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Spandidos Publications style
Ji L, Qian M, Wu N and Wu J: Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia. Exp Ther Med 13: 947-951, 2017
APA
Ji, L., Qian, M., Wu, N., & Wu, J. (2017). Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia. Experimental and Therapeutic Medicine, 13, 947-951. https://doi.org/10.3892/etm.2017.4077
MLA
Ji, L., Qian, M., Wu, N., Wu, J."Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia". Experimental and Therapeutic Medicine 13.3 (2017): 947-951.
Chicago
Ji, L., Qian, M., Wu, N., Wu, J."Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia". Experimental and Therapeutic Medicine 13, no. 3 (2017): 947-951. https://doi.org/10.3892/etm.2017.4077