RGD Reference Report - The rate of MEFV gene mutations in hematolymphoid neoplasms. - Rat Genome Database

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The rate of MEFV gene mutations in hematolymphoid neoplasms.

Authors: Celik, S  Erikci, AA  Tunca, Y  Sayan, O  Terekeci, HM  Umur, EE  Torun, D  Tangi, F  Top, C  Oktenli, C 
Citation: Celik S, etal., Int J Immunogenet. 2010 Oct;37(5):387-91. doi: 10.1111/j.1744-313X.2010.00938.x. Epub 2010 May 27.
RGD ID: 11531118
Pubmed: PMID:20518828   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1744-313X.2010.00938.x   (Journal Full-text)

The aim of this study was to determine the rate of MEFV gene mutations, the gene responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. The rate of the five most common MEFV gene mutations (M694V, M680I, V726A, M694I and E148Q) was determined in 46 patients with hematolymphoid neoplasm. We found a high frequency of carriers in patients with multiple myeloma (60%) and acute lymphocytic leukaemia (33.3%), whereas patients with chronic lymphocytic leukaemia (9%) and non-Hodgkin lymphoma (5%) had a low mutation carrier rate. There is no MEFV gene mutation in patients with Hodgkin lymphoma. Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting. In conclusion, we found a high frequency of carriers for MEFV gene in patients with multiple myeloma and acute lymphocytic leukaemia. The data of our study may provide some new insights in understanding of individual genetic differences in susceptibility to these neoplasms.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hematologic Neoplasms susceptibilityIAGP 11531118DNA:mutations:cds:p.M694V more ...RGD 
Hematologic Neoplasms susceptibilityISOMEFV (Homo sapiens)11531118; 11531118DNA:mutations:cds:p.M694V more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mefv  (MEFV innate immunity regulator, pyrin)

Genes (Mus musculus)
Mefv  (Mediterranean fever)

Genes (Homo sapiens)
MEFV  (MEFV innate immunity regulator, pyrin)


Additional Information