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Cited by 112Genetic factors in colorectal cancerBRCA gene mutations in cancerDNA Repair Mechanisms

Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature

Karamurzin, Yevgeniy, Zeng, Zhaoshi, Stadler, Zsofia K., Zhang, Liying, Ouansafi, Ihsane, Al-Ahmadie, Hikmat A., Sempoux, Christine, Saltz, Leonard B. +6 more·2012·Human Pathology
DOI 10.1016/j.humpath.2011.12.012
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Abstract

Immunohistochemical detection of DNA mismatch repair proteins and polymerase chain reaction detection of microsatellite instability have enhanced the recognition of mismatch repair-deficient neoplasms in patients with Lynch syndrome and, consequently, led to the identification of tumors that have not been included in the currently known Lynch syndrome tumor spectrum. Here, we report 4 such unusual tumors. Three of the 4, a peritoneal mesothelioma, a pancreatic acinar cell carcinoma, and a pancreatic well-differentiated neuroendocrine tumor, represented tumor types that, to the best of our knowledge, have not been previously reported in Lynch syndrome. The fourth tumor was an adrenocortical carcinoma, which has rarely been reported previously in Lynch syndrome. Three of our 4 patients carried a pathogenic germ-line mutation in a mismatch repair gene. The unusual tumor in each of the 3 patients showed loss of the mismatch repair protein corresponding to the mutation. The fourth patient did not have mutation information but had a history of colonic and endometrial carcinomas; both lacked MSH2 and MSH6 proteins. Interestingly, none of the 4 unusual tumors revealed microsatellite instability on polymerase chain reaction testing, whereas an appendiceal carcinoma from 1 of the study patients who was tested simultaneously did. The recognition of such tumors expands the repertoire of usable test samples for the workup of high-risk families. As yet, however, there are no data to support the inclusion of these tumors into general screening guidelines for detecting Lynch syndrome, nor are there data to warrant surveillance for these tumors in patients with Lynch syndrome.

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  • ACC has been reported in patients with Lynch syndrome.

    “ACC has also been reported in patients with Lynch syndrome (53–56).”

    From Adrenocortical carcinoma (2014) · cites this paper as [53]

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Authors
Karamurzin, Y., Zeng, Z., Stadler, Z. K., Zhang, L., Ouansafi, I., Al-Ahmadie, H. A., Sempoux, C., Saltz, L. B., Soslow, R. A., O'Reilly, E. M., Paty, P. B., Coit, D. G., Shia, J., & Klimstra, D. S.
Affiliations
  • Memorial Sloan Kettering Cancer Center (US)
  • Cliniques Universitaires Saint-Luc (BE)
Corresponding author
Shia, Jinru
ORCID
Venue
Human Pathology
Publisher
Elsevier BV
Published
2012-10
Volume
43
Issue
10
Pages
1677-1687
ISSN
0046-8177 (ISSN-L)
DOI
10.1016/j.humpath.2011.12.012
OpenAlex
W2061141867
Cited by
112
References
32
Citations by year
2026: 7 · 2025: 3 · 2024: 3 · 2023: 8 · 2022: 7 · 2021: 9 · 2020: 11 · 2019: 10 · 2018: 6 · 2017: 8 · 2016: 11 · 2015: 6 · 2014: 12 · 2013: 11
FWCI
6.70
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Human Pathology (publishedVersion)
  • PubMed (publishedVersion)
  • DIAL (Catholic University of Leuven) (submittedVersion)
Funders
  • Memorial Sloan-Kettering Cancer Center
  • National Cancer Institute (P30CA008748)
  • Cliniques Universitaires Saint-Luc
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords
Lynch syndrome, mismatch repair deficiency, microsatellite instability, peritoneal mesothelioma, pancreatic acinar cell carcinoma, pancreatic neuroendocrine tumors, adrenocortical carcinoma, MSH2, MSH6, germline mutations, Lynch syndrome screening
MeSH terms
Adult, Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Female, Humans, Male, Mesothelioma, Middle Aged, Pancreatic Neoplasms, Peritoneal Neoplasms, Germ-Line Mutation, Adrenocortical Carcinoma, DNA Mismatch Repair

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