Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

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; Baldetorp, Bo; Nilbert, Mef.

In: American Journal of Surgical Pathology, Vol. 35, No. 9, 01.09.2011, p. 1391-9.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Klarskov, L, Holck, S, Bernstein, I, Okkels, H, Rambech, E, Baldetorp, B & Nilbert, M 2011, 'Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function', American Journal of Surgical Pathology, vol. 35, no. 9, pp. 1391-9. https://doi.org/10.1097/PAS.0b013e318225c3f0

APA

Klarskov, L., Holck, S., Bernstein, I., Okkels, H., Rambech, E., Baldetorp, B., & Nilbert, M. (2011). Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. American Journal of Surgical Pathology, 35(9), 1391-9. https://doi.org/10.1097/PAS.0b013e318225c3f0

Vancouver

Klarskov L, Holck S, Bernstein I, Okkels H, Rambech E, Baldetorp B et al. Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. American Journal of Surgical Pathology. 2011 Sep 1;35(9):1391-9. https://doi.org/10.1097/PAS.0b013e318225c3f0

Author

Klarskov, Louise ; Holck, Susanne ; Bernstein, Inge ; Okkels, Henrik ; Rambech, Eva ; Baldetorp, Bo ; Nilbert, Mef. / Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. In: American Journal of Surgical Pathology. 2011 ; Vol. 35, No. 9. pp. 1391-9.

Bibtex

@article{cb1e4b82fc454d54b8b111ab8ee4b14c,
title = "Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function",
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 = "Louise Klarskov and Susanne Holck and Inge Bernstein and Henrik Okkels and Eva Rambech and Bo Baldetorp and Mef Nilbert",
year = "2011",
month = sep,
day = "1",
doi = "http://dx.doi.org/10.1097/PAS.0b013e318225c3f0",
language = "English",
volume = "35",
pages = "1391--9",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams & Wilkins",
number = "9",

}

RIS

TY - JOUR

T1 - Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function

AU - Klarskov, Louise

AU - Holck, Susanne

AU - Bernstein, Inge

AU - Okkels, Henrik

AU - Rambech, Eva

AU - Baldetorp, Bo

AU - Nilbert, Mef

PY - 2011/9/1

Y1 - 2011/9/1

N2 - 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.

AB - 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.

U2 - http://dx.doi.org/10.1097/PAS.0b013e318225c3f0

DO - http://dx.doi.org/10.1097/PAS.0b013e318225c3f0

M3 - Journal article

VL - 35

SP - 1391

EP - 1399

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

IS - 9

ER -

ID: 40143973