Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function.
(2011) In American Journal of Surgical Pathology 35(9). p.1391-1399- Abstract
- Identification of Lynch syndrome tumors is challenging. This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis. We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers. In the MSH6 subset, we confirmed a higher age (median, 56 y) at diagnosis and found a significantly larger proportion (25%) of rectal cancers. Presence of dirty necrosis was the sole histologic component that significantly differed between MSH6 and MLH1/MSH2 tumors. Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of... (More)
- Identification of Lynch syndrome tumors is challenging. This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis. We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers. In the MSH6 subset, we confirmed a higher age (median, 56 y) at diagnosis and found a significantly larger proportion (25%) of rectal cancers. Presence of dirty necrosis was the sole histologic component that significantly differed between MSH6 and MLH1/MSH2 tumors. Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of tumor-infiltrating lymphocytes and Crohn-like reactions. Mismatch repair defects were identified in 92% of MSH6 tumors, with high concordance between microsatellite instability and loss of immunohistochemical MSH6 expression. The remaining 8% showed a mismatch repair-stable phenotype, which suggests that analysis of additional tumors might be considered in families suspected of Lynch syndrome. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2151146
- author
- Klarskov, Louise ; Holck, Susanne ; Bernstein, Inge ; Okkels, Henrik ; Rambech, Eva LU ; Baldetorp, Bo LU and Nilbert, Mef LU
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- American Journal of Surgical Pathology
- volume
- 35
- issue
- 9
- pages
- 1391 - 1399
- publisher
- Lippincott Williams & Wilkins
- external identifiers
-
- wos:000293834400017
- pmid:21836479
- scopus:81155162622
- ISSN
- 1532-0979
- DOI
- 10.1097/PAS.0b013e318225c3f0
- project
- Precision Medicine in Hereditary Cancer and Sarcoma; targeted surveillance, immunotherapy and individualized follow-up
- language
- English
- LU publication?
- yes
- id
- 36a33787-a5b8-4c70-b2a1-0afdcad6826c (old id 2151146)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/21836479?dopt=Abstract
- date added to LUP
- 2016-04-04 08:12:44
- date last changed
- 2022-04-15 19:57:55
@article{36a33787-a5b8-4c70-b2a1-0afdcad6826c,
abstract = {{Identification of Lynch syndrome tumors is challenging. This relates particularly to MSH6-associated cases, which show reduced penetrance of colorectal cancer and a higher age at diagnosis. We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers. In the MSH6 subset, we confirmed a higher age (median, 56 y) at diagnosis and found a significantly larger proportion (25%) of rectal cancers. Presence of dirty necrosis was the sole histologic component that significantly differed between MSH6 and MLH1/MSH2 tumors. Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of tumor-infiltrating lymphocytes and Crohn-like reactions. Mismatch repair defects were identified in 92% of MSH6 tumors, with high concordance between microsatellite instability and loss of immunohistochemical MSH6 expression. The remaining 8% showed a mismatch repair-stable phenotype, which suggests that analysis of additional tumors might be considered in families suspected of Lynch syndrome.}},
author = {{Klarskov, Louise and Holck, Susanne and Bernstein, Inge and Okkels, Henrik and Rambech, Eva and Baldetorp, Bo and Nilbert, Mef}},
issn = {{1532-0979}},
language = {{eng}},
number = {{9}},
pages = {{1391--1399}},
publisher = {{Lippincott Williams & Wilkins}},
series = {{American Journal of Surgical Pathology}},
title = {{Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function.}},
url = {{http://dx.doi.org/10.1097/PAS.0b013e318225c3f0}},
doi = {{10.1097/PAS.0b013e318225c3f0}},
volume = {{35}},
year = {{2011}},
}