Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia.

We investigated the frequency of inherited variants in the MEFV gene, which is mutated in familial Mediterranean fever (FMF), in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF. We identified two homozygous (E148Q/E148Q), one compound heterozygous (M694V/E148Q) and five heterozygous inherited variants in the MEFV gene in AML patients. We also identified nine heterozygous variants in MDS patients, while we found 11 heterozygous variants in controls. The mean overall frequency of inherited variants in the MEFV gene rate was higher in MDS (χ² = 4.241; P = 0.039) and AML (χ² = 3.870; P = 0.043) patients than in healthy controls. In conclusion, this study reports high frequency of inherited variants in the MEFV gene in patients with MDS and AML. However, the hypothesis that MEFV is a cancer susceptibility gene at this point remains speculative. Additional evidence from future studies is needed to allow a more thorough evaluation of this hypothesis.