scholarly journals Increased Risk for Hereditary Nonpolyposis Colorectal Cancer-Associated Synchronous and Metachronous Malignancies in Patients with Microsatellite Instability-Positive Endometrial Carcinoma Lacking MLH1 Promoter Methylation

2004 ◽  
Vol 10 (2) ◽  
pp. 481-490 ◽  
Author(s):  
Barbara M. Buttin ◽  
Matthew A. Powell ◽  
David G. Mutch ◽  
Janet S. Rader ◽  
Thomas J. Herzog ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Endometrial Carcinoma ◽  
Promoter Methylation ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Mlh1 Promoter ◽  
Increased Risk ◽  
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.

Early-Age-at-Onset Colorectal Cancer and Microsatellite Instability as Markers of Hereditary Nonpolyposis Colorectal Cancer

2003 ◽  
Vol 46 (3) ◽  
pp. 305-312 ◽  
Author(s):  
Salvatore Pucciarelli ◽  
Marco Agostini ◽  
Alessandra Viel ◽  
Roberta Bertorelle ◽  
Valentina Russo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Age At Onset ◽  
Early Age ◽  
Hereditary Nonpolyposis

scholarly journals Differential diagnosis of small bowel occlusions

2009 ◽  
Vol 3 (2) ◽  
pp. 81-87
Author(s):  
Paolo Ghiringhelli
Keyword(s):  
Colorectal Cancer ◽  
Differential Diagnosis ◽  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Early Age ◽  
Increased Risk ◽  
Hereditary Nonpolyposis

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI). Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease.

Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer

2002 ◽  
Vol 102 (2) ◽  
pp. 198-200 ◽  
Author(s):  
Dominique E.S. Boks ◽  
Aliana P. Trujillo ◽  
Adri C. Voogd ◽  
Hans Morreau ◽  
Gemma G. Kenter ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Survival Analysis ◽  
Endometrial Carcinoma ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis
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