title: Increased frequency of Mediterranean fever gene variants in multiple myeloma.
abstract: High frequencies of inherited variants in the Mediterranean fever (MEFV)gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in theMEFVgene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six heterozygous and one homozygous (E148Q/E148Q) variant was identified in patients with MM. None of the patients had a family history compatible with familial Mediterranean fever. In the healthy control group, 11 heterozygous variants were identified. The difference in the overall frequency of the inherited variants in theMEFVgene between the MM patients and the controls was statistically significant (χ2=4.905; P=0.027). In conclusion, a high frequency of inherited variants in theMEFVgene was identified in patients with MM. Based on the current data, it is hypothesized that theMEFVgene is a cancer susceptibility gene. Additional evidence, such as familial aggregation, monozygotic versus dizygotic twin concordance, and tumors in genetically engineered model organisms, is required in order to support this hypothesis.
authors.affiliation: Division of Oncology, GATA Haydarpasa Training Hospital, Istanbul, Turkey.
authors.forename: Serkan
authors.initials: S
authors.lastname: Celik
authors.affiliation: Division of Internal Medicine, GATA Haydarpasa Training Hospital, Istanbul, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Tangi
authors.affiliation: Department of Internal Medicine, Anadolu Medical Center, Kocaeli, Turkey.
authors.forename: Cagatay
authors.initials: C
authors.lastname: Oktenli
keywords: MEFV gene; interleukin-1β; multiple myeloma; nuclear factor-κB