High frequency of MEFV gene mutations in patients with myeloid neoplasm
Küçük Resim Yok
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SpringerLink.
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
MEFV mutation, Myeloid neoplasms, Acute myeloid leukemia, Chronic myeloid leukemia, Myelodysplastic syndrome, Polycythemia vera
Kaynak
International Journal of Hematology
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
91
Sayı
5
Künye
Öktenli, C., Sayan, O., Çelik, S., Erikçi, A. A., Tunca, Y., Terekeci, H. M., Umur, E. E., Sanisoğlu, Y. S., Torun, D., Tangi, F., Sahan, B., ve Nalbant, S. (2010). High frequency of MEFV gene mutations in patients with myeloid neoplasm. International Journal of Hematology, SpringerLink. 91(5), s. 758-761.
