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Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function.

Klarskov, Louise; Holck, Susanne; Bernstein, Inge; Okkels, Henrik; Rambech, Eva LU ; Baldetorp, Bo LU and Nilbert, Mef LU (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)
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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
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
2011-09-04 22:01:31
date last changed
2017-08-27 05:44:54
@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},
  volume       = {35},
  year         = {2011},
}