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

Research output: Contribution to journalArticle

Standard

Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. / Nilbert, Mef; Therkildsen, Christina; Nissen, Anja; Åkerman, Måns; Bernstein, Inge.

In: Familial Cancer, Vol. 8, No. 3, 2009, p. 209-213.

Research output: Contribution to journalArticle

Harvard

APA

CBE

MLA

Vancouver

Author

Nilbert, Mef ; Therkildsen, Christina ; Nissen, Anja ; Åkerman, Måns ; Bernstein, Inge. / Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. In: Familial Cancer. 2009 ; Vol. 8, No. 3. pp. 209-213.

RIS

TY - JOUR

T1 - Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum

AU - Nilbert, Mef

AU - Therkildsen, Christina

AU - Nissen, Anja

AU - Åkerman, Måns

AU - Bernstein, Inge

N1 - The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Oncology, MV (013035000)

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

KW - Carcinosarcoma

KW - Leiomyosarcoma

KW - Lynch syndrome

KW - Hereditary colorectal cancer

KW - MMR

KW - MSI

KW - Hereditary sarcoma

KW - Liposarcoma

U2 - 10.1007/s10689-008-9230-8

DO - 10.1007/s10689-008-9230-8

M3 - Article

VL - 8

SP - 209

EP - 213

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 3

ER -