Familial Cancer

, Volume 12, Issue 2, pp 241–260 | Cite as

Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry

  • Jinru Shia
  • Susanne Holck
  • Giovanni DePetris
  • Joel K. Greenson
  • David S. Klimstra
Original Article


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.


HNPCC Microsatellite instability Colorectal carcinoma Endometrial carcinoma DNA mismatch repair deficiency 


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Jinru Shia
    • 1
  • Susanne Holck
    • 2
  • Giovanni DePetris
    • 3
  • Joel K. Greenson
    • 4
  • David S. Klimstra
    • 1
  1. 1.Department of PathologyMemorial Sloan-Kettering Cancer CenterNew YorkUSA
  2. 2.Department of PathologyHvidovre Hospital, University of CopenhagenHvidovreDenmark
  3. 3.Department of PathologyMayo Clinic ArizonaScottsdaleUSA
  4. 4.Department of PathologyUniversity of Michigan Health SystemAnn ArborUSA

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