scholarly journals Familial Colorectal Cancer Type X: The Other Half of Hereditary Nonpolyposis Colon Cancer Syndrome

2009 ◽  
Vol 18 (4) ◽  
pp. 637-645 ◽  
Author(s):  
Noralane M. Lindor
2007 ◽  
Vol 11 (4) ◽  
pp. 361-366 ◽  
Author(s):  
Douglas L. Riegert-Johnson ◽  
Ruth A. Johnson ◽  
Kari G. Rabe ◽  
Liang Wang ◽  
Brittany Thomas ◽  
...  

2004 ◽  
Vol 18 (5) ◽  
pp. 319-320 ◽  
Author(s):  
Victor K Wong ◽  
Eric M Yoshida ◽  
Anthony G Ryan ◽  
Stephen GF Ho ◽  
Baljinder Salh

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.


2003 ◽  
Vol 127 (2) ◽  
pp. e60-e63
Author(s):  
Arndt Hartmann ◽  
John C. Cheville ◽  
Wolfgang Dietmaier ◽  
Ferdinand Hofstädter ◽  
Lawrence J. Burgart ◽  
...  

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.


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