Originally published as JCO Early Release 10.1200/JCO.2008.18.6296 on November 10 2008

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Carcinoma of the Lower Uterine Segment: A Newly Described Association With Lynch Syndrome

Shannon N. Westin, Robin A. Lacour, Diana L. Urbauer, Rajyalakshmi Luthra, Diane C. Bodurka, Karen H. Lu, Russell R. Broaddus

From the Departments of Gynecologic Oncology, Hematopathology, and Pathology and the Division of Quantitative Sciences, The University of Texas M. D. Anderson Cancer Center, Houston TX

Corresponding author: Russell R. Broaddus, MD, PhD, Department of Pathology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030; e-mail: rbroaddus{at}mdanderson.org

Purpose Endometrial carcinoma in the lower uterine segment (LUS) is a poorly described cancer that can be clinically confused with endocervical carcinoma. We performed a case-comparison study to document the clinicopathologic characteristics of LUS tumors and their association with risk factors for endometrial cancer.

Patients and Methods The clinical records and pathology reports from women who underwent hysterectomy at our institution for endometrial or endocervical adenocarcinoma over an 11-year interval were reviewed. The LUS group consisted of women with endometrial tumors that clearly originated between the lower uterine corpus and the upper endocervix. Immunohistochemistry and microsatellite instability and MLH1 methylation assays were performed.

Results Thirty-five (3.5%) of 1,009 women had endometrial carcinoma of the LUS. Compared with patients with corpus tumors, LUS patients were younger, had higher stage tumors, and had more invasive tumors. Preoperative diagnosis of the LUS tumors more frequently included the possibility of endocervical adenocarcinoma. Seventy-three percent of the LUS tumors had an immunohistochemical expression pattern typical of conventional endometrioid adenocarcinoma. Ten (29%) of 35 women with LUS tumors were confirmed to have Lynch syndrome or were strongly suspected to have Lynch syndrome on the basis of tissue-based molecular assays.

Conclusion The prevalence of Lynch syndrome in patients with LUS endometrial carcinoma (29%) is much greater than that of the general endometrial cancer patient population (1.8%) or in endometrial cancer patients younger than age 50 years (8% to 9%). On the basis of our results, the possibility of Lynch syndrome should be considered in women with LUS tumors.

published online ahead of print at www.jco.org on November 10, 2008.

Supported by: National Institutes of Health (NIH) T32 Training Grant No. 5 T32 CA101642 02 and NIH Specialized Programs of Research Excellence for Uterine Cancer P50 CA098258 (S.W., K.L., R.B.).

Presented in part at the 97th United States and Canadian Academy of Pathology Annual Meeting, March 1-7, 2008, Denver, CO, and at the 39th Society of Gynecologic Oncologists Annual Meeting on Women's Cancer, March 9-12, 2008, Tampa, FL.

Authors’ disclosures of potential conflicts of interest and author contributions are found at the end of this article.

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