HNPCC-associated small bowel cancer: clinical and molecular characteristics
The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized. Thirty-two SBCs were characterized according to clinical, pathologic, and germline mutation data. Histomorphologic characteristics, m...
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Published in | Gastroenterology (New York, N.Y. 1943) Vol. 128; no. 3; p. 590 |
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Main Authors | , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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United States
01.03.2005
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Abstract | The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized.
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.
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.
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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AbstractList | The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly characterized.
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.
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.
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. |
Author | Rüschoff, Josef Brasch, Frank E Moeslein, Gabriela Engel, Christoph Pagenstecher, Constanze Hahn, Stephan A Knebel-Doeberitz, Magnus V Schulmann, Karsten Vogelsang, Holger Schackert, Hans K Schmiegel, Wolff Tympner, Christiane Knaebel, Hanns-Peter Meltzer, Stephen J Krüger, Stefan Kunstmann, Erdmute Mangold, Elisabeth Vogel, Tilman |
Author_xml | – sequence: 1 givenname: Karsten surname: Schulmann fullname: Schulmann, Karsten organization: Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany – sequence: 2 givenname: Frank E surname: Brasch fullname: Brasch, Frank E – sequence: 3 givenname: Erdmute surname: Kunstmann fullname: Kunstmann, Erdmute – sequence: 4 givenname: Christoph surname: Engel fullname: Engel, Christoph – sequence: 5 givenname: Constanze surname: Pagenstecher fullname: Pagenstecher, Constanze – sequence: 6 givenname: Holger surname: Vogelsang fullname: Vogelsang, Holger – sequence: 7 givenname: Stefan surname: Krüger fullname: Krüger, Stefan – sequence: 8 givenname: Tilman surname: Vogel fullname: Vogel, Tilman – sequence: 9 givenname: Hanns-Peter surname: Knaebel fullname: Knaebel, Hanns-Peter – sequence: 10 givenname: Josef surname: Rüschoff fullname: Rüschoff, Josef – sequence: 11 givenname: Stephan A surname: Hahn fullname: Hahn, Stephan A – sequence: 12 givenname: Magnus V surname: Knebel-Doeberitz fullname: Knebel-Doeberitz, Magnus V – sequence: 13 givenname: Gabriela surname: Moeslein fullname: Moeslein, Gabriela – sequence: 14 givenname: Stephen J surname: Meltzer fullname: Meltzer, Stephen J – sequence: 15 givenname: Hans K surname: Schackert fullname: Schackert, Hans K – sequence: 16 givenname: Christiane surname: Tympner fullname: Tympner, Christiane – sequence: 17 givenname: Elisabeth surname: Mangold fullname: Mangold, Elisabeth – sequence: 18 givenname: Wolff surname: Schmiegel fullname: Schmiegel, Wolff |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/15765394$$D View this record in MEDLINE/PubMed |
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Snippet | The risk for small bowel cancer (SBC) is significantly increased in hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC-associated SBCs are poorly... |
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SubjectTerms | Adolescent Adult Aged Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism Colorectal Neoplasms, Hereditary Nonpolyposis - mortality Colorectal Neoplasms, Hereditary Nonpolyposis - pathology Duodenal Neoplasms - genetics Duodenal Neoplasms - pathology Female Frameshift Mutation Germ-Line Mutation Humans Immunohistochemistry Intestinal Neoplasms - genetics Intestinal Neoplasms - metabolism Intestinal Neoplasms - mortality Intestinal Neoplasms - pathology Intestine, Small - pathology Male Microsatellite Repeats Middle Aged |
Title | HNPCC-associated small bowel cancer: clinical and molecular characteristics |
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