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Case Report

Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis

  • Authors:
    • Yongming Xia
    • Qingxiao Hong
    • Zhibin Gao
    • Shijun Wang
    • Shiwei Duan
  • View Affiliations / Copyright

    Affiliations: Department of Hematology, Yuyao People's Hospital, Yuyao, Zhejiang 315400, P.R. China, Medical Genetics Center, School of Medicine at Ningbo University, Ningbo, Zhejiang 315211, P.R. China
  • Article Number: 193
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    Published online on: January 7, 2021
       https://doi.org/10.3892/etm.2021.9625
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Abstract

Familial myeloproliferative disease (MPD) cases account for 7.6% of the global MPD cases. The present study reported 2 cases of primary myelofibrosis (PMF). The patients were two sisters; the older sister succumbed to the disease at the age of 37, whereas the younger sister maintained a stable disease status and gave birth to a son through in vitro fertilization. Genetic analysis of bone marrow DNA samples showed that both sisters carried a Janus kinase 2 (JAK2) V617F mutation, and the older sister also had a trisomy 8 chromosomal abnormality (47, XX, +8). A systematic literature search was also performed using PubMed, CNKI and Wanfang databases, to determine the association between JAK2 and PMF. Following comprehensive screening of the published literature, 19 studies were found to be eligible for the current meta‑analysis. The results showed that JAK2 V617F was a risk factor of PMF, and no sex dimorphism was observed in JAK2 V617F mutation prevalence amongst all PMF cases. In addition, there was a lack of association between the JAK2 V617F mutation and PMF‑related mortality.
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Copy and paste a formatted citation
Spandidos Publications style
Xia Y, Hong Q, Gao Z, Wang S and Duan S: Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis. Exp Ther Med 21: 193, 2021.
APA
Xia, Y., Hong, Q., Gao, Z., Wang, S., & Duan, S. (2021). Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis. Experimental and Therapeutic Medicine, 21, 193. https://doi.org/10.3892/etm.2021.9625
MLA
Xia, Y., Hong, Q., Gao, Z., Wang, S., Duan, S."Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis". Experimental and Therapeutic Medicine 21.3 (2021): 193.
Chicago
Xia, Y., Hong, Q., Gao, Z., Wang, S., Duan, S."Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis". Experimental and Therapeutic Medicine 21, no. 3 (2021): 193. https://doi.org/10.3892/etm.2021.9625
Copy and paste a formatted citation
x
Spandidos Publications style
Xia Y, Hong Q, Gao Z, Wang S and Duan S: Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis. Exp Ther Med 21: 193, 2021.
APA
Xia, Y., Hong, Q., Gao, Z., Wang, S., & Duan, S. (2021). Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis. Experimental and Therapeutic Medicine, 21, 193. https://doi.org/10.3892/etm.2021.9625
MLA
Xia, Y., Hong, Q., Gao, Z., Wang, S., Duan, S."Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis". Experimental and Therapeutic Medicine 21.3 (2021): 193.
Chicago
Xia, Y., Hong, Q., Gao, Z., Wang, S., Duan, S."Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis". Experimental and Therapeutic Medicine 21, no. 3 (2021): 193. https://doi.org/10.3892/etm.2021.9625
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