High frequency of MEFV gene mutations in patients with myeloid neoplasm

Basit Öğe Kaydı
dc.authorid0000-0003-2045-1709en_US
dc.authorid0000-0001-6415-8323en_US
dc.contributor.authorÖktenli, Çağatay
dc.contributor.authorSayan, Özkan
dc.contributor.authorÇelik, Serkan
dc.contributor.authorErikçi, A. Alev
dc.contributor.authorTunca, Yusuf
dc.contributor.authorTerekeci, Murat Hakan
dc.contributor.authorErkuvan Umur, Elçin
dc.contributor.authorSanisoğlu, Yavuz S.
dc.contributor.authorTorun, Deniz
dc.contributor.authorTangı, Fatih
dc.contributor.authorŞahan, Burak
dc.contributor.authorNalbant, Selim
dc.date.accessioned2024-07-12T21:04:14Z
dc.date.available2024-07-12T21:04:14Z
dc.date.issued2010en_US
dc.departmentFakülteler, Tıp Fakültesien_US
dc.description.abstractWe 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.en_US
dc.identifier.citationÖktenli, C., Sayan, O., Çelik, S., Erikçi, A. A., Tunca, Y., Terekeci, H. M., Umur, E. E., Sanisoğlu, Y. S., Torun, D., Tangi, F., Sahan, B., ve Nalbant, S. (2010). High frequency of MEFV gene mutations in patients with myeloid neoplasm. International Journal of Hematology, SpringerLink. 91(5), s. 758-761.en_US
dc.identifier.endpage761en_US
dc.identifier.issn0925-5710
dc.identifier.issn1865-3774
dc.identifier.issue5en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage758en_US
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/20437121/
dc.identifier.urihttps://hdl.handle.net/20.500.12415/3767
dc.identifier.volume91en_US
dc.language.isoenen_US
dc.publisherSpringerLink.en_US
dc.relation.ispartofInternational Journal of Hematologyen_US
dc.relation.isversionof10.1007/s12185-010-0577-xen_US
dc.relation.publicationcategoryUluslararası Hakemli Dergide Makale - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKY01645
dc.subjectMEFV mutationen_US
dc.subjectMyeloid neoplasmsen_US
dc.subjectAcute myeloid leukemiaen_US
dc.subjectChronic myeloid leukemiaen_US
dc.subjectMyelodysplastic syndromeen_US
dc.subjectPolycythemia veraen_US
dc.titleHigh frequency of MEFV gene mutations in patients with myeloid neoplasmen_US
dc.typeArticle
dspace.entity.typePublication

Dosyalar

Koleksiyon

Tıp Fakültesi Koleksiyonu