title: Association of a duodenal follicular lymphoma and hereditary nonpolyposis colorectal cancer.
abstract: Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited predisposition to colorectal and endometrial cancers caused by germline mutation of mismatch repair genes, with hMLH1 and hMSH2 underlying the majority of the cases. Although lymphoid tumors are the most common tumors in mouse models for HNPCC, lymphomas are almost never encountered in patients who have HNPCC, except in rare families with germline homozygous deletion of hMLH1. We report the case of a 53-year-old man who had a history of colon cancers related to constitutional hMLH1 mutation and who was diagnosed as having a duodenal follicular lymphoma This diagnosis was supported by IgH-BCL2 rearrangement and BCL2 immunoreactivity in tumor cells. The association of both of these possibly related rare diseases has never been reported. To clarify this relationship, we searched for hMLH1 expression and mismatch repair deficiency in the duodenal lymphoma. hMLH1 immunostaining was positive in lymphoid tumor cells, and no microsatellite instability was detected. In agreement with mouse models for HNPCC, these results suggest the involvement of alternative mechanisms to complete mismatch repair deficiency for lymphomagenesis in HNPCC syndrome.
authors.affiliation: Services d'Anatomie Pathologique, Hôpital Laennec, Paris, France. christopherosty@hotmail.com
authors.forename: C
authors.initials: C
authors.lastname: Rosty
authors.forename: J
authors.initials: J
authors.lastname: Brière
authors.forename: C
authors.initials: C
authors.lastname: Cellier
authors.forename: E
authors.initials: E
authors.lastname: Delabesse
authors.forename: F
authors.initials: F
authors.lastname: Carnot
authors.forename: J P
authors.initials: JP
authors.lastname: Barbier
authors.forename: P
authors.initials: P
authors.lastname: Laurent-Puig
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D018951:Antigens, CD20 / Q000032:analysis; D017252:CD3 Complex / Q000032:analysis; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins; D004379:Duodenal Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007150:Immunohistochemistry; D008224:Lymphoma, Follicular / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009154:Mutation; D009363:Neoplasm Proteins / Q000032:analysis / Q000235:genetics; D015260:Neprilysin / Q000032:analysis; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins / Q000032:analysis; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000032:analysis / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018951:Antigens, CD20; D017252:CD3 Complex; D002352:Carrier Proteins; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; C501486:MLH1 protein, human; C501485:Mlh1 protein, mouse; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D015260:Neprilysin; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein