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- Dokumenttyp:
- Journal Article
- Autor(en):
- Schulmann, K; Brasch, FE; Kunstmann, E; Engel, C; Pagenstecher, C; Vogelsang, H; Krüger, S; Vogel, T; Knaebel, HP; Rüschoff, J; Hahn, SA; Knebel-Doeberitz, MV; Moeslein, G; Meltzer, SJ; Schackert, HK; Tympner, C; Mangold, E; Schmiegel, W
- Titel:
- HNPCC-associated small bowel cancer: clinical and molecular characteristics.
- 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.
- Zeitschriftentitel:
- Gastroenterology
- Jahr:
- 2005
- Band / Volume:
- 128
- Heft / Issue:
- 3
- Seitenangaben Beitrag:
- 590-9
- Sprache:
- eng
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/15765394
- Print-ISSN:
- 0016-5085
- TUM Einrichtung:
- Chirurgische Klinik und Poliklinik
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