The cylindromatosis () gene and head and neck tumorigenesis.

Germline mutation is associated with the development of a rare inheritable syndrome, called the cutaneous syndrome. Patients with this syndrome are distinctly presented with multiple tumors in the head and neck region, which can grow in size and number over time. Some of these benign head and neck tumors can turn into malignancies in some individuals. has been identified to be the only tumor suppressor gene reported to be associated with this syndrome thus far. Here, we summarize all reported germline mutations associated with this syndrome, as well as the reported paired somatic mutations of the developed tumors. Interestingly, whole-exome sequencing (WES) studies of multiple cancer types also revealed mutations in many human malignancies, including head and neck cancers and several epithelial cancers. Currently, the role of mutations in head and neck carcinogenesis and other cancers is poorly defined. We hope that this timely review of recent findings on genetics and animal models for oncogenesis can provide important insights into the mechanism of head and neck tumorigenesis.