Case Report

Journal of Neuro-Oncology

, Volume 97, Issue 1, pp 143-148

First online:

Report on mutation in exon 15 of the APC gene in a case of brain metastasis

  • Nives Pećina-ŠlausAffiliated withLaboratory of Neurooncology, Croatian Institute for Brain Research, School of Medicine University of ZagrebDepartment of Biology, School of Medicine University of Zagreb Email author 
  • , Željka MajićAffiliated withLaboratory of Neurooncology, Croatian Institute for Brain Research, School of Medicine University of Zagreb
  • , Vesna MusaniAffiliated withDivision of Molecular Medicine, Laboratory for Hereditary Cancer, Ruđer Bošković Institute
  • , Martina ZeljkoAffiliated withLaboratory of Neurooncology, Croatian Institute for Brain Research, School of Medicine University of Zagreb
  • , Hrvoje ČupićAffiliated withLjudevit Jurak Department of Pathology, University Hospital “Sisters of Charity”

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Abstract

The study analyzes exon 15 of the adenomatous polyposis coli gene (APC) in a 49-year-old male patient with brain metastasis. The primary site was lung carcinoma. PCR method and direct DNA sequencing of the metastasis and autologous lymphocyte samples identified the presence of a somatic mutation. The substitution was at position 5883 G–A in the metastasis tissue. The mutation was confirmed by RFLP analysis using Msp I endonuclease, since the mutation strikes the Msp I restriction site. Immunohistochemical analysis revealed the lack of protein expression of this tumor suppressor gene. The main molecular activator of the wnt pathway, beta-catenin, was expressed, and located in the nucleus. The mutation is a silent mutation that might have consequences in the creation of a new splice site. Different single-base substitutions in APC exons need not only be evaluated by the predicted change in amino acid sequence, but rather at the nucleotide level itself. In our opinion, such silent mutations should also be incorporated in mutation detection rate and validation.

Keywords

Adenomatous polyposis coli gene Mutation Brain metastasis G–A transversion