Lynch Syndrome Presenting as Endometrial Cancer

Lynch Syndrome Presenting as Endometrial Cancer

1. Laura J. Tafe¹,²,
2. Eleanor R. Riggs¹,² and
3. Gregory J. Tsongalis¹,²,*

+ Author Affiliations

1. ¹Departments of Pathology and
2. ²Medicine, Geisel School of Medicine at Dartmouth, Hanover, NH, and Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH.

1. ↵*Address correspondence to this author at: Geisel School of Medicine at Dartmouth and Dartmouth-Hitchcock Medical Center, One Medical Center Dr., Lebanon, NH 03756. Fax 603-650-6120; e-mail gregory.j.tsongalis@hitchcock.org.

Abstract

Background: Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS.

Content: Next to colorectal cancer, endometrial cancer is the most common form of malignancy found in women with LS. Identifying individuals who harbor the well-characterized mismatch-repair gene mutations via immunohistochemistry, microsatellite instability analysis, or direct gene sequencing is critical to managing the LS patient and to surveillance for the development of other associated tumor types.

Summary: Although many institutions have begun screening all colorectal tumors for LS, the evidence is sufficient to warrant the testing of all endometrial cancers for LS as well. Various testing algorithms, along with genetic-counseling efforts, can lead to a cost-efficient and beneficial screening program.

• Received for publication June 26, 2013.
• Accepted for publication October 17, 2013.

• © 2013 The American Association for Clinical Chemistry