Lynch syndrome-associated neoplasms: A discussion on histopathology and immunohistochemistry Journal Article


Authors: Shia, J.; Holck, S.; Depetris, G.; Greenson, J. K.; Klimstra, D. S.
Article Title: Lynch syndrome-associated neoplasms: A discussion on histopathology and immunohistochemistry
Abstract: It was a century ago that Warthin, a pathologist, first described the clinical condition now known as Lynch syndrome. One hundred years later, our understanding of this syndrome has advanced significantly. Much of the progress took place over the last 25 years and was marked by a series of interacting developments from the disciplines of clinical oncology, pathology, and molecular genetics, with each development serving to guide or enhance the next. The advancement of our understanding about the pathology of Lynch syndrome associated tumors exemplifies such intimate interplay among disciplines. Today, accumulative knowledge has enabled surgical pathologists to detect tumors that are likely to be associated with Lynch syndrome, and the pathologist is playing an increasingly more important role in the care of these patients. The pathologist's ability is afforded primarily by information gained from tumor histopathology and by DNA mismatch repair protein immunohistochemistry. It is therefore pertinent both for the pathologists to accurately ascertain this morphologic information, and for all that are involved in the care of these patients to thoroughly understand the implications of such information. This article provides an overview of the development of histopathology and immunohistochemistry in Lynch syndrome-associated tumors, particularly in colorectal and endometrial cancers, and outlines the issues and current status of these specific pathologic aspects in not only the major tumors but also those less commonly seen or only newly reported in Lynch syndrome patients. © 2013 Springer Science+Business Media Dordrecht.
Keywords: immunohistochemistry; gene mutation; somatic mutation; missense mutation; histopathology; cancer risk; molecular genetics; brain tumor; endometrium carcinoma; dna replication; cell proliferation; tumor associated leukocyte; cell structure; melanoma; gene expression; protein degradation; protein stability; cell differentiation; dna methylation; carcinogenesis; colorectal carcinoma; tumor suppressor gene; germinal center; cpg island; mismatch repair; microsatellite instability; oxidative stress; epithelial cell adhesion molecule; leiomyosarcoma; k ras protein; acinar cell carcinoma; hypoxia inducible factor 1alpha; genetic model; protein mlh1; endometrial carcinoma; hnpcc; mismatch repair protein; protein msh2; protein msh6; endometrium tumor; b raf kinase; ephrin receptor b2; pathologist; mismatch repair protein pms2; peritoneum mesothelioma; liposarcoma; chemoradiotherapy; hereditary nonpolyposis colorectal cancer; dna mismatch repair deficiency; linkage analysis; crypt cell; pancreatic neuroendocrine tumor; protein patched; urinary tract tumor
Journal Title: Familial Cancer
Volume: 12
Issue: 2
ISSN: 1389-9600
Publisher: Springer  
Date Published: 2013-06-01
Start Page: 241
End Page: 260
Language: English
DOI: 10.1007/s10689-013-9612-4
PROVIDER: scopus
PUBMED: 23435936
DOI/URL:
Notes: --- - "Export Date: 4 September 2013" - "CODEN: FCAAA" - "Source: Scopus"
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  1. David S Klimstra
    978 Klimstra
  2. Jinru Shia
    715 Shia