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Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum

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Authors:
  • Nilbert, Mef ;
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    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Therkildsen, Christina ;
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    unknown
  • Nissen, Anja ;
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    unknown
  • Akerman, Måns ;
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    unknown
  • Bernstein, Inge ;
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    Section of Surgery and Internal Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Nilbert, Mef ;
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    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Therkildsen, Christina ;
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    unknown
  • Nissen, Anja ;
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    unknown
  • Akerman, Måns ;
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    unknown
  • Bernstein, Inge
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    Section of Surgery and Internal Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
DOI:
10.1007/s10689-008-9230-8
Abstract:
Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify HNPCC families in which sarcomas had been diagnosed. Fourteen sarcomas were identified in families with mutations in MSH2, MSH6, and MLH1. The median age at sarcoma diagnosis was 43 (15-74) years. Soft tissue sarcomas predominated followed by uterine sarcomas and eight histopathological subtypes were represented with recurrent diagnoses of liposarcoma, leiomyosarcoma, and carcinosarcoma. Tumor tissue from eight cases was available for analysis of mismatch-repair (MMR) status using immunohistochemical staining and analysis of microsatellite instability, which revealed MMR defects in six of the eight tumors investigated. This suggests that sarcomas may be part of the HNPCC tumor spectrum and that colorectal cancer should be considered in the family history of sarcoma patients.
Type:
Journal article
Language:
English
Published in:
Familial Cancer, 2009, Vol 8, Issue 3, p. 209-13
Keywords:
Journal Article; Research Support, Non-U.S. Gov't
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2009
Scientific Level:
Scientific
ID:
1188259

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