High frequency of MEFV gene mutations in patients with myeloid neoplasm

被引:10
|
作者
Oktenli, Cagatay [1 ]
Sayan, Ozkan [2 ]
Celik, Serkan [1 ]
Erikci, Alev A. [2 ]
Tunca, Yusuf [3 ]
Terekeci, Hakan M. [1 ]
Umur, Elcin Erkuvan [1 ]
Sanisoglu, Yavuz S. [4 ]
Torun, Deniz [3 ]
Tangi, Fatih [1 ]
Sahan, Burak [1 ]
Nalbant, Selim [1 ]
机构
[1] GATA Haydarpasa Training Hosp, Div Internal Med, TR-34668 Istanbul, Turkey
[2] GATA Haydarpasa Training Hosp, Div Hematol, TR-34668 Istanbul, Turkey
[3] Gulhane Mil Med Acad, Dept Med Genet, Ankara, Turkey
[4] Turkish Minist Hlth, Dept Monitoring & Evaluat, Ankara, Turkey
关键词
MEFV mutation; Myeloid neoplasms; Acute myeloid leukemia; Chronic myeloid leukemia; Myelodysplastic syndrome; Polycythemia vera; FAMILIAL MEDITERRANEAN FEVER; NF-KAPPA-B; ACTIVATION; APOPTOSIS; PROTEIN; PYRIN; EXPRESSION; FMF; ASC; MECHANISMS;
D O I
10.1007/s12185-010-0577-x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:758 / 761
页数:4
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