Literature DB >> 23435936

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

Jinru Shia1, Susanne Holck, Giovanni Depetris, Joel K Greenson, David S Klimstra.   

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.

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Year:  2013        PMID: 23435936     DOI: 10.1007/s10689-013-9612-4

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  132 in total

1.  Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.

Authors:  Kandelaria Rumilla; Karen V Schowalter; Noralane M Lindor; Brittany C Thomas; Kara A Mensink; Steven Gallinger; Spring Holter; Polly A Newcomb; John D Potter; Mark A Jenkins; John L Hopper; Tiffany I Long; Daniel J Weisenberger; Robert W Haile; Graham Casey; Peter W Laird; Loic Le Marchand; Stephen N Thibodeau
Journal:  J Mol Diagn       Date:  2010-12-23       Impact factor: 5.568

2.  Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer.

Authors:  S Salahshor; K Koelble; C Rubio; A Lindblom
Journal:  Lab Invest       Date:  2001-04       Impact factor: 5.662

3.  History and molecular genetics of Lynch syndrome in family G: a century later.

Authors:  Julie A Douglas; Stephen B Gruber; Karen A Meister; Joseph Bonner; Patrice Watson; Anne J Krush; Henry T Lynch
Journal:  JAMA       Date:  2005-11-02       Impact factor: 56.272

4.  Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer.

Authors:  Heather Hampel
Journal:  J Natl Compr Canc Netw       Date:  2010-05       Impact factor: 11.908

5.  Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias.

Authors:  Roland Kruse; Arno Rütten; Nadine Schweiger; Eva Jakob; Micaela Mathiak; Peter Propping; Elisabeth Mangold; Michele Bisceglia; Thomas Ruzicka
Journal:  J Invest Dermatol       Date:  2003-05       Impact factor: 8.551

6.  Synchronous breast cancers with different morphologic and molecular phenotypes occurring in Lynch syndrome: what does the heterogeneity imply?

Authors:  Clare D'Arcy; Yong H Wen; Zsofia K Stadler; Edi Brogi; Jinru Shia
Journal:  Am J Surg Pathol       Date:  2011-11       Impact factor: 6.394

Review 7.  Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas.

Authors:  Blaise A Clarke; Kumarasen Cooper
Journal:  Adv Anat Pathol       Date:  2012-07       Impact factor: 3.875

8.  Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.

Authors:  Jinru Shia; Liying Zhang; Moshe Shike; Min Guo; Zsofia Stadler; Xiaoling Xiong; Laura H Tang; Efsevia Vakiani; Nora Katabi; Hangjun Wang; Ruben Bacares; Jeanine Ruggeri; C Richard Boland; Marc Ladanyi; David S Klimstra
Journal:  Mod Pathol       Date:  2012-08-24       Impact factor: 7.842

9.  Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues.

Authors:  F S Leach; K Polyak; M Burrell; K A Johnson; D Hill; M G Dunlop; A H Wyllie; P Peltomaki; A de la Chapelle; S R Hamilton; K W Kinzler; B Vogelstein
Journal:  Cancer Res       Date:  1996-01-15       Impact factor: 12.701

10.  Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.

Authors:  Siobhan S Wahlberg; James Schmeits; George Thomas; Massimo Loda; Judy Garber; Sapna Syngal; Richard D Kolodner; Edward Fox
Journal:  Cancer Res       Date:  2002-06-15       Impact factor: 12.701

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  31 in total

1.  Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Authors:  Yael Goldberg; Inbal Kedar; Revital Kariiv; Naama Halpern; Morasha Plesser; Ayala Hubert; Luna Kaduri; Michal Sagi; Israela Lerer; Dvorah Abeliovich; Tamar Hamburger; Aviram Nissan; Hanoch Goldshmidt; Irit Solar; Ravit Geva; Hana Strul; Guy Rosner; Hagit Baris; Zohar Levi; Tamar Peretz
Journal:  Fam Cancer       Date:  2014-03       Impact factor: 2.375

2.  High numbers of PDCD1 (PD-1)-positive T cells and B2M mutations in microsatellite-unstable colorectal cancer.

Authors:  Jonas Janikovits; Meike Müller; Julia Krzykalla; Sandrina Körner; Fabian Echterdiek; Bernd Lahrmann; Niels Grabe; Martin Schneider; Axel Benner; Magnus von Knebel Doeberitz; Matthias Kloor
Journal:  Oncoimmunology       Date:  2017-11-06       Impact factor: 8.110

3.  Report from the 19th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Winnipeg, Manitoba; 29-30 September 2017.

Authors:  C A Kim; S Ahmed; S Ahmed; B Brunet; H Chalchal; R Deobald; C Doll; M P Dupre; V Gordon; R M Lee-Ying; H Lim; D Liu; J M Loree; J P McGhie; K Mulder; J Park; B Yip; R P Wong; A Zaidi
Journal:  Curr Oncol       Date:  2018-08-14       Impact factor: 3.677

4.  Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel.

Authors:  Naim Abu Freha; Yaara Leibovici Weissman; Alexander Fich; Inbal Barnes Kedar; Marisa Halpern; Ignacio Sztarkier; Doron M Behar; Orly Arbib Sneh; Alex Vilkin; Hagit N Baris; Rachel Gingold; Flavio Lejbkowicz; Yaron Niv; Yael Goldberg; Zohar Levi
Journal:  Fam Cancer       Date:  2018-01       Impact factor: 2.375

Review 5.  Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma.

Authors:  Jinru Shia
Journal:  Semin Diagn Pathol       Date:  2015-02-04       Impact factor: 3.464

Review 6.  Clinical significance of microsatellite instability in colorectal cancer.

Authors:  Matthias Kloor; Laura Staffa; Aysel Ahadova; Magnus von Knebel Doeberitz
Journal:  Langenbecks Arch Surg       Date:  2013-09-19       Impact factor: 3.445

7.  Clinicopathologic Features of Colorectal Carcinoma in HIV-Positive Patients.

Authors:  Carlie Sigel; Marcela S Cavalcanti; Tanisha Daniel; Efsevia Vakiani; Jinru Shia; Keith Sigel
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2016-05-13       Impact factor: 4.254

8.  MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas.

Authors:  Wei Chen; Rachel Pearlman; Heather Hampel; Colin C Pritchard; Michael Markow; Christina Arnold; Deborah Knight; Wendy L Frankel
Journal:  Hum Pathol       Date:  2019-11-27       Impact factor: 3.466

9.  Rectal Mass in a Pregnant Patient: How Come?

Authors:  Daniel Castresana; Morgan Wong; Archana Kaza
Journal:  Dig Dis Sci       Date:  2015-11-04       Impact factor: 3.199

10.  Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.

Authors:  Wei Chen; Heather Hampel; Rachel Pearlman; Dan Jones; Weiqiang Zhao; Mohammed Alsomali; Deborah Knight; Wendy L Frankel
Journal:  Hum Pathol       Date:  2020-07-08       Impact factor: 3.466

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