title: High frequency of MEFV gene mutations in patients with myeloid neoplasm.
abstract: 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.
authors.affiliation: Division of Internal Medicine, GATA Haydarpasa Training Hospital, 34668, Kadikoy, Istanbul, Turkey. coktenli@yahoo.com
authors.forename: Cagatay
authors.initials: C
authors.lastname: Oktenli
authors.forename: Ozkan
authors.initials: O
authors.lastname: Sayan
authors.forename: Serkan
authors.initials: S
authors.lastname: Celik
authors.forename: Alev A
authors.initials: AA
authors.lastname: Erikci
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Tunca
authors.forename: Hakan M
authors.initials: HM
authors.lastname: Terekeci
authors.forename: Elcin Erkuvan
authors.initials: EE
authors.lastname: Umur
authors.forename: Yavuz S
authors.initials: YS
authors.lastname: Sanisoglu
authors.forename: Deniz
authors.initials: D
authors.lastname: Torun
authors.forename: Fatih
authors.initials: F
authors.lastname: Tangi
authors.forename: Burak
authors.initials: B
authors.lastname: Sahan
authors.forename: Selim
authors.initials: S
authors.lastname: Nalbant
mesh_terms: 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
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin