Literature DB >> 12555992

Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours.

Andrew Ruszkiewicz1, Graeme Bennett, James Moore, Jim Manavis, Barney Rudzki, Linda Shen, Graeme Suthers.   

Abstract

AIM: The aim of this study was to assess the performance of immunohistochemistry using antibodies for MLH1, MSH2, MSH6 and PMS2 mismatch repair gene proteins against microsatellite instability (MSI) testing.
METHODS: Tumour samples included in this study were derived from referred patients for screening for hereditary non-polyposis colorectal cancer (HNPCC) and patients who had resections for colorectal cancer that were examined at our institution. MSI was assessed at nine loci (BAT25, BAT26, BAT40, D2S123, D10S197, D17S579, D18S34, D5S346 and D17S250) in all cases. Immunohistochemistry for MLH1 and MSH2 was performed in all cases. Staining for MSH6 and PMS2 was performed in selected cases only.
RESULTS: There were 742 tumours including 661 colorectal lesions and 81 extracolonic tumours of the HNPCC spectrum. Among the 555 MSI-negative tumours, 554 showed an intact protein expression. Amongst the 187 MSI-positive tumours, 126 showed abnormal expression of MLH1 gene protein, 41 showed abnormal expression of MSH2 gene, three showed abnormal expression of MSH6 only, one showed abnormal expression of PMS2 gene protein only and one case showed abnormal expression of all four proteins.
CONCLUSION: Immunohistochemistry offers an alternative method for assessment of MSI status which is fast and relatively inexpensive compared with MSI testing. We achieved a sensitivity rate of 92% and specificity of 99.8% for immunohistochemistry testing assessed against the MSI testing. It has to be accepted that a small fraction of MSI-positive cases will be missed by testing with immunohistochemistry alone.

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Year:  2002        PMID: 12555992     DOI: 10.1080/0031302021000035965-2

Source DB:  PubMed          Journal:  Pathology        ISSN: 0031-3025            Impact factor:   5.306


  29 in total

Review 1.  The utility of immunohistochemical detection of DNA mismatch repair gene proteins.

Authors:  Jinru Shia; Nathan A Ellis; David S Klimstra
Journal:  Virchows Arch       Date:  2004-09-29       Impact factor: 4.064

2.  A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.

Authors:  Iolanda Borelli; Marco A Barberis; Francesca Spina; Guido C Casalis Cavalchini; Caterina Vivanet; Luisa Balestrino; Monica Micheletti; Anna Allavena; Paola Sala; Carlo Carcassi; Barbara Pasini
Journal:  Eur J Hum Genet       Date:  2012-07-11       Impact factor: 4.246

3.  Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature.

Authors:  Mehrdad Zeinalian; Mohammad Hassan Emami; Rasoul Salehi; Azar Naimi; Mohammad Kazemi; Morteza Hashemzadeh-Chaleshtori
Journal:  J Gastrointest Cancer       Date:  2015-06

4.  Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.

Authors:  Celia S Chen; Kerry D Phillips; Scott Grist; Graeme Bennet; Jamie E Craig; James S Muecke; Graeme K Suthers
Journal:  Fam Cancer       Date:  2006-08-31       Impact factor: 2.375

5.  The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.

Authors:  Britta Halvarsson; Annika Lindblom; Eva Rambech; Kristina Lagerstedt; Mef Nilbert
Journal:  Fam Cancer       Date:  2006-07-12       Impact factor: 2.375

Review 6.  Microsatellite instability in gastrointestinal tract cancers: a brief update.

Authors:  Shinya Oda; Yan Zhao; Yoshihiko Maehara
Journal:  Surg Today       Date:  2005       Impact factor: 2.549

Review 7.  Lynch syndrome: clinical, pathological, and genetic insights.

Authors:  Ralph Schneider; Claudia Schneider; Matthias Kloor; Alois Fürst; Gabriela Möslein
Journal:  Langenbecks Arch Surg       Date:  2012-02-24       Impact factor: 3.445

8.  Mismatch repair hMSH2, hMLH1, hMSH6 and hPMS2 mRNA expression profiles in precancerous and cancerous urothelium.

Authors:  Dimitra P Vageli; Stavros Giannopoulos; Sotirios G Doukas; Christos Kalaitzis; Stilianos Giannakopoulos; Alexandra Giatromanolaki; George K Koukoulis; Stavros Touloupidis
Journal:  Oncol Lett       Date:  2012-10-19       Impact factor: 2.967

9.  A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

Authors:  Iolanda Borelli; Guido C Casalis Cavalchini; Serena Del Peschio; Monica Micheletti; Tiziana Venesio; Ivana Sarotto; Anna Allavena; Luisa Delsedime; Marco A Barberis; Giorgia Mandrile; Paola Berchialla; Paola Ogliara; Cecilia Bracco; Barbara Pasini
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

10.  Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

Authors:  Britta Halvarsson; Annika Lindblom; Eva Rambech; Kristina Lagerstedt; Mef Nilbert
Journal:  Virchows Arch       Date:  2003-12-02       Impact factor: 4.064

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