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. 2005 Mar;128(3):590-9.
doi: 10.1053/j.gastro.2004.12.051.

HNPCC-associated small bowel cancer: clinical and molecular characteristics

Karsten Schulmann  1 , Frank E Brasch, Erdmute Kunstmann, Christoph Engel, Constanze Pagenstecher, Holger Vogelsang, Stefan Krüger, Tilman Vogel, Hanns-Peter Knaebel, Josef Rüschoff, Stephan A Hahn, Magnus V Knebel-Doeberitz, Gabriela Moeslein, Stephen J Meltzer, Hans K Schackert, Christiane Tympner, Elisabeth Mangold, Wolff Schmiegel; German HNPCC Consortium
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HNPCC-associated small bowel cancer: clinical and molecular characteristics

Karsten Schulmann et al. Gastroenterology. 2005 Mar.

Abstract

Background & aims: The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized.

Methods: Thirty-two SBCs were characterized according to clinical, pathologic, and germline mutation data. Histomorphologic characteristics, microsatellite instability (MSI) testing, mismatch repair (MMR) protein expression, and frameshift mutations of 7 coding mononucleotide repeats were investigated in 17 SBCs.

Results: Median age at diagnosis was 39 years. Fifty percent of SBCs were located in the duodenum. The Amsterdam criteria were fulfilled in 50% of patients; 45% of patients had no personal history of previous malignancies. Two patients had a positive family history for SBC. Pathogenic germline mutations were identified in 81%; high MSI was detected in 95% and loss of MMR protein expression in 89% of cases. TGFBR2 , BAX , MSH3 , MSH6 , ACVR2 , AIM2 , and SEC63 frameshift mutations were detected in 69%, 59%, 59%, 35%, 82%, 56%, and 56%, respectively. An expansive growth pattern of the tumor border and an intense intratumoral lymphocytic infiltrate were present in 75%, respectively.

Conclusions: HNPCC-associated SBC often manifests at a young age and may be the first disease manifestation. Endoscopy may detect 50% of tumors. Considering recent data on gastric cancer, we propose endoscopic screening of mutation carriers starting at 30 years of age because clinical criteria cannot define a high-risk group. In addition, our study shows that histopathologic criteria, MSI, and MMR immunohistochemistry are often similar to these features in HNPCC.

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