Mutations of the BIK gene in human peripheral B-cell lymphomas.
BIK, a BH (Bcl2 homology domain)3-only protein, is a proapoptotic member of the BCL2 family. We performed single-strand conformational polymorphism and sequencing analysis of the entire coding region of the BIK gene (exons 2-5) in 71 B-cell lymphomas [27 follicular lymphomas (FLs), 13 marginal cell lymphomas (MZLs), 7 small lymphocytic lymphomas (SLLs), 6 mantle cell lymphomas (MCLs), 2 lymphoplasmacytic lymphomas, and 16 diffuse large B-cell lymphomas (DLBCLs)]. Missense BIK gene mutations were observed in 3 of 27 (11%) FLs, in 2 of 13 (15%) MZLs, and in 1 of 16 (6%) DLBCLs. Sequence alterations in intronic regions were observed in 4 of 27 (14.8%) FLs, in 7 of 13 (53%) MZLs, and in 3 of 16 (18%) DLBCLs. These data indicate that mutation of the BIK gene is a frequent feature of B-cell lymphomas.
Arena
Vincenzo
V
Istituto di Anatomia Patologica, Università Cattolica del Sacro Cuore, Rome 00168, Italy.
Martini
Maurizio
M
Luongo
Myriam
M
Capelli
Arnaldo
A
Larocca
Luigi Maria
LM
D017209:Apoptosis / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D004252:DNA Mutational Analysis / Q000379:methods; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
D051017:Apoptosis Regulatory Proteins; C096820:BIK protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009363:Neoplasm Proteins; D011506:Proteins