scholarly journals Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome

2006 ◽  
Vol 120 (4) ◽  
pp. 821-824 ◽  
Author(s):  
Laura Renkonen-Sinisalo ◽  
Ralf Bützow ◽  
Arto Leminen ◽  
Pentti Lehtovirta ◽  
Jukka-Pekka Mecklin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Cancer Syndrome ◽  
Hereditary Nonpolyposis

The detection of microsatellite instability in blind endometrial samples—a potential novel screening tool for endometrial cancer in women from hereditary nonpolyposis colorectal cancer families?

2006 ◽  
Vol 16 (3) ◽  
pp. 1393-1400
Author(s):  
M. J. Hewitt ◽  
N. Wood ◽  
N. D. Quinton ◽  
R. Charlton ◽  
G. Taylor ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Microsatellite Instability ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Screening Tool ◽  
Endometrial Biopsy ◽  
Cancer Syndrome ◽  
Normal Endometrium ◽  
Increased Risk ◽  
Hereditary Nonpolyposis

Microsatellite instability (MSI) is the phenotypic molecular characteristic of the majority of tumors associated with the hereditary nonpolyposis colorectal cancer syndrome (HNPCC). Women in this group have an increased risk of endometrial cancer (EC). This study aimed to determine whether MSI could be demonstrated in blind endometrial samples from women with EC, HNPCC kindreds undergoing screening for EC, and women with normal endometrium. Twenty-four women with EC, 20 women from HNPCC kindreds, and 20 women undergoing gynecological surgery for benign indications underwent blind sampling. MSI analysis was performed by conventional polymerase chain reaction using fluorescent-labeled primers and automated analysis. Twelve microsatellites were studied with MSI defined as evident when novel alleles were seen in endometrial biopsy samples compared to genomic DNA. Of the 24 EC samples obtained, sufficient DNA for analysis was extracted in 17 cases. Three cases had evidence of MSI in at least 7/12 loci. None of the endometrium from the two other study groups revealed evidence of MSI. This is the first demonstration of MSI in blind endometrial biopsies. The ability to demonstrate MSI in heterogenous endometrial samples suggests potential for the development of a novel EC screening tool for women in HNPCC kindreds.

scholarly journals Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

2007 ◽  
Vol 122 (5) ◽  
pp. 1077-1081 ◽  
Author(s):  
Sang Nam Yoon ◽  
Ja-Lok Ku ◽  
Young-Kyoung Shin ◽  
Kyung-Hee Kim ◽  
Jin-Sung Choi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

Hereditary Nonpolyposis Colorectal Cancer Syndrome in a Patient With Urothelial Carcinoma of the Upper Urothelial Tract

2003 ◽  
Vol 127 (2) ◽  
pp. e60-e63
Author(s):  
Arndt Hartmann ◽  
John C. Cheville ◽  
Wolfgang Dietmaier ◽  
Ferdinand Hofstädter ◽  
Lawrence J. Burgart ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Urinary Tract ◽  
Urothelial Carcinoma ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Upper Urinary Tract ◽  
Cancer Syndrome ◽  
Tract Cancer ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
History Of Cancer

Abstract Urothelial carcinoma of the upper urinary tract is relatively uncommon but may develop as a manifestation of the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), which is characterized by mutations in a number of DNA mismatch repair genes and detectable as microsatellite instability or loss of the respective protein by immunostaining. No well-established screening test is available for urothelial carcinomas of the upper urinary tract, and little is known of the clinical impact of screening for HNPCC in patients with upper urinary tract cancer. We describe herein a patient with a urothelial carcinoma of the ureter and a strongly positive history of cancer, who was subsequently found to have HNPCC. Our findings reinforce the importance of obtaining a comprehensive history of cancer in patients with urothelial carcinoma of the renal pelvis and ureter. Subsequent identification of individuals with HNPCC enables the patient and at-risk relatives to benefit from targeted surveillance and management programs.

scholarly journals Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

2007 ◽  
Vol 67 (19) ◽  
pp. 9603-9603 ◽  
Author(s):  
Heather Hampel ◽  
Jenny Panescu ◽  
Janet Lockman ◽  
Kaisa Sotamaa ◽  
Daniel Fix ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

scholarly journals MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques

2018 ◽  
Vol 115 (11) ◽  
pp. 2806-2811 ◽  
Author(s):  
David W. Brammer ◽  
Patrick J. Gillespie ◽  
Mei Tian ◽  
Daniel Young ◽  
Muthuswamy Raveendran ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Rhesus Macaques ◽  
Pedigree Analysis ◽  
Hepatic Flexure ◽  
Cancer Center ◽  
Cancer Syndrome ◽  
University Of Texas ◽  
Hereditary Nonpolyposis ◽  
Md Anderson

Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques (Macaca mulatta) at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions in different locations, including proximal to the ileocecal juncture, proximal to the hepatic flexure, and/or in the sigmoid colon. These colon carcinoma lesions selectively accumulated [18F]fluorodeoxyglucose ([18F]FDG) and [18F]fluoroacetate ([18F]FACE) at high levels, reflecting elevated carbohydrate and fatty acid metabolism in these tumors. In contrast, the accumulation of [18F]fluorothymidine ([18F]FLT) was less significant, reflecting slow proliferative activity in these tumors. The diagnoses of colon carcinomas were confirmed by endoscopy. The expression of MLH1, MSH2, and MSH6 proteins and the degree of microsatellite instability (MSI) was assessed in colon carcinomas. The loss of MLH1 protein expression was observed in all tumors and was associated with a deletion mutation in the MLH1 promoter region and/or multiple single-nucleotide polymorphism (SNP) mutations in the MLH1 gene. All tumors exhibited various degrees of MSI. The pedigree analysis of this rhesus macaque population revealed several clusters of affected animals related to each other over several generations, suggesting an autosomal dominant transmission of susceptibility for colon cancer. The newly discovered hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques, termed MLH1-rheMac, may serve as a model for development of novel approaches to diagnosis and therapy of Lynch syndrome in humans.

scholarly journals Advanced Colon Cancer Before the Age of 20 Years: A Case for Extension of the Current Colonscopy Surveillance Guidelines in Hereditary Nonpolyposis Colorectal Cancer Syndrome

2004 ◽  
Vol 18 (5) ◽  
pp. 319-320 ◽  
Author(s):  
Victor K Wong ◽  
Eric M Yoshida ◽  
Anthony G Ryan ◽  
Stephen GF Ho ◽  
Baljinder Salh
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Pelvic Mass ◽  
Cancer Syndrome ◽  
Advanced Colon Cancer ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
Current Guidelines ◽  
Colorectal Adenocarcinomas

BACKGROUND:Hereditary nonpolyposis colorectal cancer (HNPCC) currently accounts for between 2% to 6% of all colorectal adenocarcinomas. Controversies exist regarding the current guidelines for colonoscopic screening for colon cancer.CASE REPORT:A case of colon cancer in a young Japanese man with a family history of colon cancer that did not meet the criteria for HNPCC is reported. A malignant pelvic mass discovered shortly before his 20th birthday prompted a colonoscopy. The findings at colonscopy determined that the patient and his family fulfilled the criteria of HNPCC.CONCLUSION:Before finding a pelvic mass metastatic from adenocarcinoma of the ascending colon, this patient was clearly outside of the current guidelines for HNPCC screening. It is suggested that in similar patients, even if they do not fulfill all the criteria for HNPCC, it would be appropriate to consider screening well before the recommended lower age.

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer

2006 ◽  
Vol 101 (2) ◽  
pp. 238-243 ◽  
Author(s):  
Susanne Malander ◽  
Eva Rambech ◽  
Ulf Kristoffersson ◽  
Britta Halvarsson ◽  
Mona Ridderheim ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Ovarian Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Cancer Syndrome ◽  
Hereditary Nonpolyposis
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