Tags

Type your tag names separated by a space and hit enter

Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma.
J Clin Pathol 2009; 62(8):679-84JC

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.

Authors+Show Affiliations

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York 10065, USA.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19638537

Citation

Garg, K, and R A. Soslow. "Lynch Syndrome (hereditary Non-polyposis Colorectal Cancer) and Endometrial Carcinoma." Journal of Clinical Pathology, vol. 62, no. 8, 2009, pp. 679-84.
Garg K, Soslow RA. Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol. 2009;62(8):679-84.
Garg, K., & Soslow, R. A. (2009). Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. Journal of Clinical Pathology, 62(8), pp. 679-84. doi:10.1136/jcp.2009.064949.
Garg K, Soslow RA. Lynch Syndrome (hereditary Non-polyposis Colorectal Cancer) and Endometrial Carcinoma. J Clin Pathol. 2009;62(8):679-84. PubMed PMID: 19638537.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. AU - Garg,K, AU - Soslow,R A, PY - 2009/7/30/entrez PY - 2009/7/30/pubmed PY - 2009/11/10/medline SP - 679 EP - 84 JF - Journal of clinical pathology JO - J. Clin. Pathol. VL - 62 IS - 8 N2 - 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. SN - 1472-4146 UR - https://www.unboundmedicine.com/medline/citation/19638537/Lynch_syndrome__hereditary_non_polyposis_colorectal_cancer__and_endometrial_carcinoma_ L2 - http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=19638537 DB - PRIME DP - Unbound Medicine ER -