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Lynch Syndrome in Endometrial Carcinoma: A Sentinel Diagnosis

Conklin, Christopher M. J. MD, FRCPC; Longacre, Teri A. MD

doi: 10.1097/PCR.0000000000000022
Case Review

Abstract: Lynch syndrome, also known as hereditary nonpolyposis colon cancer, is an autosomal dominant inherited cancer susceptibility syndrome characterized by germline mutations in mismatch repair genes such as MSH2, MSH6, PMS2, and MLH1. Although Lynch syndrome is most commonly associated with colon cancer, recent attention has shifted to its relationship to endometrial carcinoma. In women with Lynch syndrome, endometrial carcinoma is often the first clinical manifestation, alerting clinicians to the risk of subsequent Lynch syndrome–related cancers and the initiation of early screening and preventive strategies, which can significantly reduce cancer-related morbidity and mortality. Using traditional factors such as age and family history to decide which patients receive testing misses up to 70% of Lynch syndrome cases. The pathologist plays a vital role not only in identifying cases suggestive of Lynch syndrome, but also in interpreting screening tests. This review discusses the genetics and clinicopathologic features of Lynch syndrome–related endometrial carcinoma, as well as the screening protocols and preventive strategies used in the evaluation of patients who may be at risk for Lynch syndrome.

From the Department of Pathology, Stanford University, Stanford, CA.

Reprints: Christopher M. J. Conklin, MD, Department of Pathology, Stanford University School of Medicine, 300 Pasteur Dr, Lane 235, Stanford, CA 94305. E-mail: cconklin@stanford.edu.

The authors have no funding or conflicts to declare.

© 2014 by Lippincott Williams & Wilkins.