Genetic Polymorphism Study of the BCL-6 Gene, in Diffuse Large B-cell Lymphoma Ebid Gamal T.1, Allah Farida H Gad1, Kamel Mahmoud M.1,*, Hassan Nagwa H.2, Leithy Asmaa A. El2, Hassan Magda M.3 1Departments of Clinical Pathology, National Cancer Institute, Cairo University, Egypt 2Department of Zoology, Faculty of Science, Ain Shams University, Egypt 3Department of Pathology, National Cancer Institute, Cairo University, Egypt *Corressponding Author: mm.kamel@yahoo.com
Online published on 20 July, 2012. Abstract Background Diffuse large B-cell lymphoma (DLBCL) is characterized by a marked degree of morphologic and clinical heterogeneity. BCL6 gene rearrangements are the most common frequent chromosomal abnormalities in DLBCL. Genetic modifications of the BCL-6 gene in lymphoma include translocations, deletions, and somatic mutations (SM) of the 5’- non-coding region. Mutations in the 5’-regulatory region of BCL-6 were suggested to play a role in non-Hodgkin’s lymphoma (NHL) progression. Methods We studied single nucleotide polymorphism (SNP) at position 397(G>C) of the 5’-non-coding regulatory region of BCL-6. We examined 30 patients with DLBCL treated at National Cancer Institute (NCI), Cairo University and 21normal lymph nodes from patients with breast cancer were selected as controls. We used PCR-RFLP coupled analysis to detect the polymorphism. Results From 30 patients with DLBCL 17 were males (56.7%) and 13 were females (43.3%), the polymorphism G397C in the 5’ region of BCL-6 was detected in 7 cases (23.3%). There was no significant association of clinical characteristics of DLBCL patients with this polymorphism, but there a trend for this polymorphism to occur more frequent in patients with aggressive disease was observed. Conclusion In our study we found that the incidence of the G397C SNP mutations in the 5’-regulatory region of BCL-6 to be 23.3%. No statistical significant association between the G397C SNP in BCL-6 gene with the standard Clinicopathological factors in patients with DLBCL was observed; however there a trend for this polymorphism to occur more frequent in patients with aggressive disease. Top Keywords DLBCL, NHL, BCL-6, SNP. Top |