Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene.

摘要: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal disorder caused by mutations in DNA mismatch repair (MMR) genes. Tumors of the HNPCC-spectrum are associated with microsatellite instability (MSI) and loss MMR protein expression. Lymphomas not considered to be HNPCC-related tumors. We report analyze a case HNPCC patient three cancers B-cell non-Hodgkin lymphoma. Quantitative multiplex PCR short fluorescent fragments detected novel MSH2 rearrangement involving exons 9 10, which proved pathogenic cause disease family. Tumor tissues including lymphoma showed MSI Multiplex ligation-dependent probe amplification analysis revealed somatic wild-type allele These results support fact that total gene can lead lymphomagenesis, as seen biallelic MMR-deficient families knockout mice. Moreover, this first expression, linked heterozygous germline mutation