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

Genes, Chromosomes & Cancer
M PinedaI Blanco

Abstract

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

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Citations

Sep 22, 2010·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·L R KiddJ Beynon
Mar 21, 2013·Breast Cancer Research : BCR·Aung Ko WinMark A Jenkins
Oct 17, 2012·Leukemia & Lymphoma·Lucile CouronnéFabrice Jardin
Sep 23, 2010·Leukemia & Lymphoma·Antoaneta BelchevaAlberto Martin
Oct 18, 2011·Journal of Comparative Pathology·D AberdeinI R Gibson
Sep 8, 2010·Hematology/oncology Clinics of North America·Jane E Churpek, Kenan Onel
Apr 11, 2020·BMJ Case Reports·Deepali Pandey, David Scott Shepro
Nov 17, 2020·Oncogene·Xiaogan WangChangqing Zeng

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