ISSN 1941-5923


Microsatellite instability and DNA-mismatch repair deficiency in consequence of hereditary nonpolyposis colorectal cancer syndrome are not associated with familial adenocarcinoma of the esophagus: report on two brothers

Robert Michael Hermann, Annegret Müller-Dornieden, Barbara Oberschmid, Hans Christiansen, Josef Rüschoff

CaseRepClinPractRev 2007; 8:259-261

ID: 519376

Published: 2007-11-07

Background: The hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is the most common form of hereditary colorectal cancers, and accounts for more than 3% of the total colorectal cancer burden. Since there are no single clinical features specific for HNPCC, diagnosis is based on family history (Amsterdam or Bethesda criteria) and is confirmed by the detection
of a mutation in one of the responsible mismatch repair (MMR) genes. Two types of HNPCCfamilies can be distinguished. Type I HNPCC tumors are exclusively located in the colon, whereas in Type II HNPCC patients present with extracolonic tumors. Many of these associated tumors are adenocarcinomas.
Case Report: We report on two brothers, both suffering from adenocarcinoma of the esophagus. Because of the young age of onset (44 and 46, respectively) we considered a genetical background and investigated an association between familial cancer and deficiency in DNA MMR. Following
the diagnostic step-ladder microsatellite instability (MSI) analysis on the recommended 5 microsatellite loci was done. Furthermore, specimens were stained for DNA MMR enzymes.
Conclusions: In summary, MSI was not detected and the studied repair proteins were highly expressed in our patients. We could not find evidence for HNPCC in this case of familial esophageal carcinoma.

Keywords: Colorectal Neoplasms, Hereditary Nonpolyposis