RESUMO
BACKGROUND: Dysregulation in transforming growth factor (TGF)-ß1 signalling pathways has been linked to cancer. AIM: To study the association between single nucleotide polymorphisms (SNPs) of the TGF-ß1 gene and mycosis fungoides (MF). METHODS: Using restriction fragment length polymorphism analysis, SNPs in the TGF-ß1 gene were studied in 55 patients with MF of different stages and in 100 apparently healthy controls. RESULTS: A significant difference was found between patients and controls in distribution of the different TGF-ß1 genotypes, with mutant forms (T/C, T/T) encountered significantly more often in patients with MF (P < 0.001). The heterozygous genotype (T/C) was significantly associated with patch stage MF, whereas the homozygous genotype (T/T) was significantly associated with tumour stage (stage IIb) MF (P = 0.001), although this study included only a small number of these patients. CONCLUSIONS: Mutant TGF-ß1 genotypes are significantly associated with MF in Egyptian patients, with the homozygous genotype (T/T) having a stronger association with tumour stage (stage IIb).