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

Nilbert, Mef LU ; Therkildsen, Christina LU ; Nissen, Anja; Åkerman, Måns LU and Bernstein, Inge (2009) In Familial Cancer 8(3). p.209-213
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Carcinosarcoma, Leiomyosarcoma, Lynch syndrome, Hereditary colorectal cancer, MMR, MSI, Hereditary sarcoma, Liposarcoma
in
Familial Cancer
volume
8
issue
3
pages
209 - 213
publisher
Kluwer
external identifiers
  • wos:000268427400006
  • scopus:68449087753
ISSN
1389-9600
DOI
10.1007/s10689-008-9230-8
language
English
LU publication?
yes
id
eee8d30f-f21a-4eb9-8201-c7b0077b1da4 (old id 1460638)
date added to LUP
2009-08-31 11:00:53
date last changed
2017-01-01 05:09:28
@article{eee8d30f-f21a-4eb9-8201-c7b0077b1da4,
  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.},
  author       = {Nilbert, Mef and Therkildsen, Christina and Nissen, Anja and Åkerman, Måns and Bernstein, Inge},
  issn         = {1389-9600},
  keyword      = {Carcinosarcoma,Leiomyosarcoma,Lynch syndrome,Hereditary colorectal cancer,MMR,MSI,Hereditary sarcoma,Liposarcoma},
  language     = {eng},
  number       = {3},
  pages        = {209--213},
  publisher    = {Kluwer},
  series       = {Familial Cancer},
  title        = {Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum},
  url          = {http://dx.doi.org/10.1007/s10689-008-9230-8},
  volume       = {8},
  year         = {2009},
}