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Somatically acquired mutations in primary myelofibrosis: A case report and meta-analysis
Yongming Xia1, Qingxiao Hong2, Zhibin Gao1
1Department of Hematology, Yuyao People's Hospital, Yuyao, Zhejiang 315400, P.R. China.
Experimental and Therapeutic Medicine
|January 25, 2021
Summary
Familial myeloproliferative disease (MPD) is rare, but this study found the Janus kinase 2 (JAK2) V617F mutation is a risk factor for primary myelofibrosis (PMF). The JAK2 mutation was not linked to increased mortality in PMF patients.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Familial myeloproliferative disease (MPD) constitutes a small percentage of global MPD cases.
- Primary myelofibrosis (PMF) is a serious MPD with a significant mortality rate.
Purpose of the Study:
- To investigate the role of Janus kinase 2 (JAK2) V617F mutation in familial primary myelofibrosis (PMF).
- To conduct a meta-analysis on the association between JAK2 V617F mutation and PMF risk, sex dimorphism, and mortality.
Main Methods:
- Case report of two sisters with primary myelofibrosis (PMF).
- Genetic analysis of bone marrow DNA for JAK2 V617F mutation and chromosomal abnormalities.
- Systematic literature search and meta-analysis of 19 eligible studies.
Main Results:
- Both sisters carried the JAK2 V617F mutation; the older sister also had trisomy 8.
- Meta-analysis confirmed JAK2 V617F as a risk factor for PMF.
- No significant sex dimorphism in JAK2 V617F mutation prevalence was observed.
- The JAK2 V617F mutation showed no association with PMF-related mortality.
Conclusions:
- The JAK2 V617F mutation is a significant risk factor for primary myelofibrosis (PMF), even in familial cases.
- While JAK2 V617F is implicated in PMF development, it does not appear to influence mortality risk.
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