Other syndromes

Peutz-Jeghers syndrome (PJS) and Cowden syndrome (CS) are familial lentiginoses syndromes (1) that deserve mention due to their gynecologic manifestations. Both syndromes are characterized by distinctive dermatologic manifestations, gastrointestinal polyposis, and an elevated predisposition toward various benign and malignant growths (2). (Table 1) Li-Fraumeni syndrome (LFS) is characterized by multiple diverse neoplasms, including soft tissue sarcomas and young-onset breast cancer (3,4). These hereditary cancer syndromes result from the autosomal dominant inheritance of a mutated tumor suppressor gene in the germline DNA, causing the mutant allele to be present in every cell of the body. Cancer arises in different tissues through a series of genetic events, including the inactivation of the second, normal allele. Early recognition of these genetic syndromes provides the opportunity for specialized care and an aggressive approach to cancer screening.