The MEFV gene and clonal myeloid disorders.

The relationship between the MEFV gene (MEFV), which is mutated in familial Mediterranean fever (FMF) disease and located on 16p13.3, and clonal myeloid disorders has been a subject of concern, and there have been studies undertaken in an effort to explain this situation1-3. In these studies, it was speculated that MEFV is a cancer susceptibility gene because the protein encoded by this gene, pyrin, is closely related with interleukin-1 (IL-1) and nuclear factorB (NF-B) pathways, which play a part in carcinogenesis. It is proposed that when the mutations in MEFV alter pyrin synthesis, the subsequent abnormalities developing in either pyrin structure or function disrupt these pathways and lead to development of myeloid malignancy. Therefore, point mutations in MEFV in patients with myeloid neoplasms were analyzed. However, each study resulted in similar but unexplainable results with this hypothesis, suggesting the presence of a relationship developing via other mechanisms. Recent evidence suggests that -thalassemia myelodysplastic syndrome (ATMDS) might be one of those alternative mechanisms. ATMDS is an acquired form of -thalassemia that arises in the context of a clonal myeloid disorder4,5. This condition may develop with deletions in the -globin gene on chromosome 16 in band 16p13.3 neighboring MEFV, and is a well-characterized acquired disorder in patients with hematologic malignancy. In this yet to be enlightened relationship, ATMDS seems to explain the results achieved in the studies that could not be explained by the previous hypothesis. Therefore, we herein want to draw attention to this clinical condition.