Literature DB >> 14760069

Increased risk for hereditary nonpolyposis colorectal cancer-associated synchronous and metachronous malignancies in patients with microsatellite instability-positive endometrial carcinoma lacking MLH1 promoter methylation.

Barbara M Buttin1, Matthew A Powell, David G Mutch, Janet S Rader, Thomas J Herzog, Randall K Gibb, Phyllis Huettner, Tina Bocker Edmonston, Paul J Goodfellow.   

Abstract

PURPOSE: The aim of this study was to evaluate number and types of synchronous and metachronous malignancies in patients with endometrial carcinoma with and without microsatellite instability (MSI). EXPERIMENTAL
DESIGN: From a series of 413 endometrial cancer patients, we identified 94 patients with MSI-positive (MSI+) cancers and grouped them by tumor MLH1 promoter methylation status. These 94 patients were matched by year of surgery to 94 patients with MSI-negative (MSI-) endometrial cancers from the same series. Medical records were reviewed for clinicopathologic information including rates and types of synchronous and metachronous malignancies. Hereditary nonpolyposis colorectal cancer (HNPCC)-associated second and third cancers were analyzed for MSI and MSH2, MSH6, and MLH1 expression for comparison with the corresponding endometrial cancers.
RESULTS: The MSI+ and MSI- cohorts were similar with regard to age, race, grade, and histology. Twenty-eight MSI+ endometrial cancers (29.8%) were MLH1 unmethylated. Rates of synchronous and metachronous cancers were also similar in the MSI+ and MSI- groups at 20 and 23%, respectively. However, patients with MSI+ MLH1 unmethylated endometrial cancers had an excess of HNPCC-associated second and third cancers compared with those with MSI+ MLH1 methylated and MSI- endometrial cancers (18% versus 4.5%, P = 0.034, and 2.1%, P = 0.002). Six of seven second tumors from 5 patients with MSI+ MLH1 unmethylated endometrial cancers showed concordant MSI and mismatch repair protein expression status.
CONCLUSIONS: Our observation that patients with MSI-positive MLH1 unmethylated endometrial carcinoma are at increased risk for HNPCC-associated synchronous and metachronous malignancies suggests inherited cancer susceptibility. These patients and their families may warrant more intense cancer surveillance.

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Year:  2004        PMID: 14760069     DOI: 10.1158/1078-0432.ccr-1110-03

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN: 1078-0432            Impact factor:   12.531


  9 in total

Review 1.  The roles of pathology in targeted therapy of women with gynecologic cancers.

Authors:  Rajmohan Murali; Rachel N Grisham; Robert A Soslow
Journal:  Gynecol Oncol       Date:  2017-11-23       Impact factor: 5.482

2.  DNA methylotype analysis in colorectal cancer.

Authors:  Jinsheng Yu; Robert R Freimuth; Robert Culverhouse; Sharon Marsh; Mark A Watson; Howard L McLeod
Journal:  Oncol Rep       Date:  2008-10       Impact factor: 3.906

3.  Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

Authors:  Barbara M Buttin; Matthew A Powell; David G Mutch; Sheri A Babb; Phyllis C Huettner; Tina Bocker Edmonston; Thomas J Herzog; Janet S Rader; Randall K Gibb; Alison J Whelan; Paul J Goodfellow
Journal:  Am J Hum Genet       Date:  2004-04-19       Impact factor: 11.025

4.  Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil.

Authors:  Silvia Liliana Cossio; Patricia Koehler-Santos; Suzana Arenhart Pessini; Heleuza Mónego; Maria Isabel Edelweiss; Luise Meurer; Abdellatif Errami; Jordy Coffa; Hugo Bock; Maria Luiza Saraiva-Pereira; Patricia Ashton-Prolla; João Carlos Prolla
Journal:  Fam Cancer       Date:  2010-06       Impact factor: 2.375

5.  Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.

Authors:  Christine S Walsh; Audra Blum; Ann Walts; Randa Alsabeh; Hang Tran; H Phillip Koeffler; Beth Y Karlan
Journal:  Gynecol Oncol       Date:  2010-01-19       Impact factor: 5.482

6.  Endometrial cancer and microsatellite instability status.

Authors:  Daiva Kanopiene; Jolanta Vidugiriene; Konstantinas Povilas Valuckas; Giedre Smailyte; Saule Uleckiene; Jeff Bacher
Journal:  Open Med (Wars)       Date:  2014-11-11

7.  The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.

Authors:  N A J Ryan; M A Glaire; D Blake; M Cabrera-Dandy; D G Evans; E J Crosbie
Journal:  Genet Med       Date:  2019-05-14       Impact factor: 8.822

Review 8.  The Role of Immunohistochemistry Markers in Endometrial Cancer with Mismatch Repair Deficiency: A Systematic Review.

Authors:  Amelia Favier; Justine Varinot; Catherine Uzan; Alex Duval; Isabelle Brocheriou; Geoffroy Canlorbe
Journal:  Cancers (Basel)       Date:  2022-08-03       Impact factor: 6.575

Review 9.  Immunology of Lynch Syndrome.

Authors:  Danielle M Pastor; Jeffrey Schlom
Journal:  Curr Oncol Rep       Date:  2021-06-14       Impact factor: 5.075

  9 in total

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