Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum |
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Authors: | Mef Nilbert Christina Therkildsen Anja Nissen Måns Åkerman Inge Bernstein |
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Institution: | 1. Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Ketteg?rd allé 30, 2650, Hvidovre, Denmark 2. HNPCC-register, Department of Gastroenterology, Hvidovre Hospital, Copenhagen University, Hvidovre, Denmark 3. Department of Oncology, Lund University Hospital, Lund, Sweden 4. Department of Pathology, Lund University Hospital, Lund, Sweden
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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. |
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Keywords: | MMR MSI Hereditary colorectal cancer Lynch syndrome Leiomyosarcoma Carcinosarcoma Liposarcoma Hereditary sarcoma |
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