High frequency of MEFV gene mutations in patients with myeloid neoplasm
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- 作者：Cagatay Oktenli (1)
Ozkan Sayan (2)
Serkan Celik (1)
Alev A. Erikci (2)
Yusuf Tunca (3)
Hakan M. Terekeci (1)
Elcin Erkuvan Umur (1)
Yavuz S. Sanisoglu (4)
Deniz Torun (3)
Fatih Tangi (1)
Burak Sahan (1)
Selim Nalbant (1) - 关键词：MEFV mutation ; Myeloid neoplasms ; Acute myeloid leukemia ; Chronic myeloid leukemia ; Myelodysplastic syndrome ; Polycythemia vera
- 刊名：International Journal of Hematology
- 出版年：2010
- 出版时间：June 2010
- 年：2010
- 卷：91
- 期：5
- 页码：758-761
- 全文大小：170KB
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Ozkan Sayan (2)
Serkan Celik (1)
Alev A. Erikci (2)
Yusuf Tunca (3)
Hakan M. Terekeci (1)
Elcin Erkuvan Umur (1)
Yavuz S. Sanisoglu (4)
Deniz Torun (3)
Fatih Tangi (1)
Burak Sahan (1)
Selim Nalbant (1)
1. Division of Internal Medicine, GATA Haydarpasa Training Hospital, 34668, Kadikoy, Istanbul, Turkey
2. Division of Hematology, GATA Haydarpasa Training Hospital, Istanbul, Turkey
3. Department of Medical Genetics, G眉lhane Military Medical Academy, Ankara, Turkey
4. Department of Monitoring and Evaluation, Turkish Ministry of Health, Ankara, Turkey
文摘
We aimed to investigate the rate of MEFV, the gene mutated in familial Mediterranean fever, mutations in patients with myeloid neoplasm and to determine if known mutations of MEFV cause a tendency for myeloid neoplasms. The frequency of the five most common MEFV gene mutations (M694V, M680I, V726A, E148Q and M694I) was determined in 26 patients with myeloid neoplasm. We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever. The mean overall mutation rate was 0.269. We found a high frequency of carriers in patients with myelodysplastic syndrome (66.6%), polycythemia vera (33.3%) and acute myeloid leukemia (28.6%). However, there was no MEFV gene mutation in patients with chronic myeloid leukemia. In conclusion, this study reports for the first time a possibly high prevalence of MEFV gene mutations in patients with myeloid neoplasm, especially myelodysplastic syndrome, polycythemia vera and acute myeloid leukemia. Our findings could open new perspectives for MEFV gene mutations in myeloid neoplasms and its association with tumor promotion. Further research is needed to determine the actual role of MEFV gene mutations in these malignancies.