Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

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 ep...

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Detalles Bibliográficos
Autores principales: Nakamura, Kohei, Nakayama, Kentaro, Minamoto, Toshiko, Ishibashi, Tomoka, Ohnishi, Kaori, Yamashita, Hitomi, Ono, Ruriko, Sasamori, Hiroki, Razia, Sultana, Hossain, Mohammad Mahmud, Kamrunnahar, Shanta, Ishikawa, Masako, Ishikawa, Noriyoshi, Kyo, Satoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979360/
https://www.ncbi.nlm.nih.gov/pubmed/29587389
http://dx.doi.org/10.3390/ijms19040979
Descripción
Sumario: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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