High frequency of MEFV gene mutations in patients with myeloid neoplasm.
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.
Oktenli
Cagatay
C
Division of Internal Medicine, GATA Haydarpasa Training Hospital, 34668, Kadikoy, Istanbul, Turkey. coktenli@yahoo.com
Sayan
Ozkan
O
Celik
Serkan
S
Erikci
Alev A
AA
Tunca
Yusuf
Y
Terekeci
Hakan M
HM
Umur
Elcin Erkuvan
EE
Sanisoglu
Yavuz S
YS
Torun
Deniz
D
Tangi
Fatih
F
Sahan
Burak
B
Nalbant
Selim
S
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D007951:Leukemia, Myeloid / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics*; D000071198:Pyrin; D055815:Young Adult
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin