Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report
Kohei Nakamura1, Kentaro Nakayama2, Toshiko Minamoto3
1Department of Obstetrics and Gynecology, Shimane University School of Medicine, Enyacho 89-1, Izumo 6938501, Japan. kohei320@med.shimane-u.ac.jp.
Abstract:
Lynch syndrome, a hereditary cancer syndrome, occurs because of germline mutations in at least one of four DNA mismatch repair genes (MutL Homolog 1 (MLH1), MutS Homolog 2 (MSH2), MutS Homolog 6 (MSH6), and PMS1 Homolog 2 (PMS2)). The disorder is associated with colorectal, endometrial, and other epithelial malignancies, but not cervical cancer. We report a woman with Lynch syndrome with synchronous cervical cancer. This is the first report of Lynch syndrome-related clear cell carcinoma of the cervix, which indicates the possibility of an association between cervical cancer and Lynch syndrome. Suitable genetic tests are required to determine whether common genetics can account for synchronous or subsequent malignancies in Lynch syndrome patients and their families. Such knowledge will also enhance our understanding of the genetic mechanisms governing the development of apparently unrelated cancers.
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