Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma Journal Article
| Authors: | Garg, K.; Soslow, R. A. |
| Article Title: | Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma |
| Abstract: | Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy. Identification of these patients is important given their personal and family risk for synchronous and metachronous tumours. Modalities to detect ECs for the possibility of HNPCC include microsatellite instability assay, immunohistochemistry for DNA mismatch repair proteins, MLH1 promoter hypermethylation assay and mutational analysis of DNA mismatch repair genes. The revised Bethesda guidelines provide screening criteria for HNPCC in colorectal cancers (CRCs). However, there are currently no such screening recommendations for women with endometrial carcinoma. While age and family history are useful screening criteria, their sensitivity has been shown to be low for detection of HNPCC in EC. Expansion of these criteria to include tumour morphology (presence of tumour infiltrating lymphocytes and tumour heterogeneity including dedifferentiated/undifferentiated ECs) and topography (lower uterine segment localisation) as well as presence of synchronous ovarian clear cell carcinomas may significantly enhance the detection of patients with EC at risk for HNPCC. Consideration should be given to incorporating these screening criteria into a revision of the Bethesda guidelines for detecting EC patients at highest risk for HNPCC. |
| Keywords: | immunohistochemistry; gene mutation; review; cancer risk; endometrium carcinoma; endometrial neoplasms; genetic analysis; colorectal cancer; cancer screening; practice guideline; algorithms; dna methylation; mismatch repair; microsatellite instability; dna mismatch repair; dna, neoplasm; ovary carcinoma; familial cancer; dna mutational analysis; genetic screening; protein mlh1; colorectal neoplasms, hereditary nonpolyposis |
| Journal Title: | Journal of Clinical Pathology |
| Volume: | 62 |
| Issue: | 8 |
| ISSN: | 0021-9746 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2009-08-01 |
| Start Page: | 679 |
| End Page: | 684 |
| Language: | English |
| DOI: | 10.1136/jcp.2009.064949 |
| PUBMED: | 19638537 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 3" - "Export Date: 30 November 2010" - "CODEN: JCPAA" - "Source: Scopus" |
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