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High frequency of inherited variants in the MEFV gene in patients with hematologic neoplasms: a genetic susceptibility?

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Abstract

Familial Mediterranean fever is an autosomal recessive disease occurring in populations originating from the Mediterranean basin. This autoinflammatory syndrome is caused by mutations in the Mediterranean FeVer (MEFV) gene. MEFV encodes a 781 amino acid protein known as pyrin. Pyrin is an important modulator of apoptosis, inflammation, and cytokine processing. In more recent pilot studies, inherited variant analysis of the MEFV gene in patients with hematologic neoplasm showed an unexpectedly high frequency of these variants in the gene. Here, we summarize the current state of knowledge of the relationship between inherited variants in the MEFV gene and hematologic neoplasms. Although no single underlying defect could be targeted in all hematologic neoplasms, it will be important to fully exploit the mechanisms underlying the neoplasm promoting role of inherited variants in MEFV. However, it is unclear how inherited variants in the MEFV gene are associated with tumor susceptibility or promotion in hematologic neoplasms. Further investigations are needed to determine the actual role of the MEFV gene in pathogenesis of these neoplasms.

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The authors of the present work have no interests, which might be perceived as posing a conflict or bias.

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  1. Department of Internal Medicine and Geriatrics, Anadolu Medical Center, 41400, Kocaeli, Turkey

    Cagatay Oktenli

  2. Division of Internal Medicine, GATA Haydarpasa Training Hospital, Istanbul, Turkey

    Serkan Celik

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  1. Cagatay Oktenli
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Correspondence to Cagatay Oktenli.

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Oktenli, C., Celik, S. High frequency of inherited variants in the MEFV gene in patients with hematologic neoplasms: a genetic susceptibility?. Int J Hematol 95, 380–385 (2012). https://doi.org/10.1007/s12185-012-1061-6

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  • DOI: https://doi.org/10.1007/s12185-012-1061-6

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