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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12185-012-1022-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
New diseases linked to MEFV variants or pyrinopathies.
J Allergy Clin Immunol Pract
December 2024
Sorbonne University, Department of Internal Medicine, DMU3ID, Hôpital Tenon, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France; Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA). Electronic address:
Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response.
View Article and Find Full Text PDFPyoderma gangrenosum arising at the site of BCG immunization in a nine-month-old girl.
Immunol Med
December 2024
Department of Pediatrics, KKR Sapporo Medical Center, Sapporo, Japan.
Pyoderma gangrenosum (PG) is an extremely rare disorder in children. We report a nine-month-old girl with PG who presented with high-grade fever and rapidly progressive ulcers at the site of a Bacillus Calmette-Guérin (BCG) inoculation 2 months after the immunization. Additional small pustules developed on her hand and posterior neck three months after the immunization and rapidly progressed.
View Article and Find Full Text PDFPreliminary Evaluation for the Development of a Scoring System to Predict Homozygous M694V Genotype in Familial Mediterranean Fever Patients: A Single-Center Study.
J Clin Rheumatol
January 2025
From the Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.
Objective: The aim of this study was to identify key parameters of a scoring system to be developed to predict the homozygous M694V genotype in patients clinically diagnosed with familial Mediterranean fever.
Methods: This study was a cross-sectional analysis of 472 pediatric familial Mediterranean fever patients with a homozygous genotype on exon 10, followed at our tertiary pediatric rheumatology clinic between June 2016 and June 2023. The patients were categorized into 2 groups based on their genotypes: group 1 comprised 402 patients (85.
Updated genetic background of generalized pustular psoriasis as an autoinflammatory keratinization disease.
J Dermatol
December 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Generalized pustular psoriasis (GPP) is a severe autoinflammatory keratinization disease (AiKD) characterized by acute flares of widespread sterile pustules and high fever. GPP is potentially life-threatening. Recently clarified genetic predisposing factors for GPP suggest that the excessive activation of innate immune pathways in the skin, including of interleukin (IL)-1 and IL-36 signaling, plays a significant role in the GPP pathogenesis.
View Article and Find Full Text PDFThe effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.
Postgrad Med
December 2024
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Bilkent, Ankara, Turkey.
Objective: To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity.
Methods: This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the MEFV gene (M694V, M694I, M680I, V726A, R761H, T267I). Patients were grouped according to age at disease onset (Group 1:<6 years; Group 2:6-11 years; and Group 3:>11 years).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!