The first three authors contributed equally to this work.
Early Detection and Diagnosis
Hereditary nonpolyposis colorectal cancer in endometrial cancer patients
Article first published online: 31 OCT 2007
Copyright © 2007 Wiley-Liss, Inc.
International Journal of Cancer
Volume 122, Issue 5, pages 1077–1081, 1 March 2008
How to Cite
Yoon, S. N., Ku, J.-L., Shin, Y.-K., Kim, K.-H., Choi, J.-S., Jang, E.-J., Park, H.-C., Kim, D.-W., Kim, M. A., Kim, W. H., Lee, T. S., Kim, J. W., Park, N.-H., Song, Y.-S., Kang, S.-B., Lee, H.-P., Jeong, S.-Y. and Park, J.-G. (2008), Hereditary nonpolyposis colorectal cancer in endometrial cancer patients. Int. J. Cancer, 122: 1077–1081. doi: 10.1002/ijc.22986
- Issue published online: 24 DEC 2007
- Article first published online: 31 OCT 2007
- Manuscript Accepted: 19 APR 2007
- Manuscript Received: 23 JAN 2007
- Research Grant for National Cancer Center
- BK21 Project for Medicine, Dentistry, and Pharmacy
Vol. 124, Issue 8, 1997, Article first published online: 13 JAN 2009
- endometrial cancer;
- hereditary nonpolyposis colorectal cancer (HNPCC);
- microsatellite instability (MSI);
- mismatch repair gene (MMR);
Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. There were 4 (3.5%) clinical HNPCC patients fulfilling the Amsterdam criteria II, and 2 (2/4, 50%) of them carried MSH2 germline mutations. There were also 8 (7.1%) suspected HNPCC (s-HNPCC) patients fulfilling the revised criteria for s-HNPCC, and one (1/8, 12.5%) of them revealed MLH1 germline mutation. In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations. In 113 patients with endometrial cancer, we could find 5 (4.4%) HNPCC patients with MMR germline mutation and 2 (1.8%) clinical HNPCC patients without identified MMR gene mutation. Family history was critical in detecting 3 HNPCC patients with MMR germline mutation, and MSI testing with IHC staining for MLH1, MSH2 and MSH6 proteins was needed in the diagnosis of 2 HNPCC patients who were not clinical HNPCC or s-HNPCC, especially for MSH6 germline mutation. © 2007 Wiley-Liss, Inc.