title: Mutations in the coding region of c-myc occur frequently in acquired immunodeficiency syndrome-associated lymphomas.
abstract: We have analyzed 30 cases of high- and intermediate-grade acquired immunodeficiency syndrome-associated non-Hodgkin's lymphoma (AIDS-NHL) for mutations in the c-myc coding region. In addition, in these same tumors, we have sought the presence of mutations in a regulatory region within the first c-myc intron defined by the binding to a factor that inhibits c-myc transcription (MYC intron factor, or mif). Mutations in the c-myc coding region were present in 10 of 16 small noncleaved cell lymphoma (SNCL), but in only 3 of 14 other histologic subtypes tested (0/3 large non-cleaved cell, 2/8 immunoblastic, and 1/3 anaplastic large cell lymphomas). Nineteen of the AIDS-NHLs analyzed contained a c-myc rearrangement and in 10 of these the c-myc gene was mutated in its coding region. In contrast, we could detect a mutation in the coding region in only 2 of 8 AIDS-NHL without a c-myc rearrangement. Mutations in the mif region were detected in 5 of 16 SNCL. Among AIDS-NHL carrying mutations in the c-myc coding region, only 4 carried mutations in the regulatory region. These results suggest that the mutations in the coding region of the c-myc protein may either be a consequence of the translocations involving c-myc, or may be necessary only in tumors where c-myc is deregulated as a result of a c-myc/lg translocation.
authors.affiliation: Lymphoma Biology Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
authors.forename: K
authors.initials: K
authors.lastname: Bhatia
authors.forename: G
authors.initials: G
authors.lastname: Spangler
authors.forename: G
authors.initials: G
authors.lastname: Gaidano
authors.forename: N
authors.initials: N
authors.lastname: Hamdy
authors.forename: R
authors.initials: R
authors.lastname: Dalla-Favera
authors.forename: I
authors.initials: I
authors.lastname: Magrath
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D016259:Genes, myc; D006801:Humans; D016483:Lymphoma, AIDS-Related / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D017931:DNA Primers