The importance of continued surveillance of high risk cancer families as illustrated in a family with Gardner’s syndrome

Abstract

1551 Background: The scientific community continues to rapidly discover cancer predisposition genes allowing high risk families to identify underlying genetic abnormalities providing more individualized medical management. Therefore, continued follow-up becomes critical and is exemplified by Family A, a case that had been lost to follow-up for almost 40 years. Family A was first reported in the literature in 1955 by Weiner and Cooper presenting with a dominant inheritance pattern of osteomatosis, multiple soft tissue tumors and colorectal adenomatosis polyposis consistent with several families previously reported by Gardner et al. between 1950–1953. The clinical diagnosis of Gardner syndrome was established. In 1969 Coli et al. further described the phenotypic manifestations of Family A’s second and third generations after which the family was largely lost to follow-up until two second generation members presented to our high-risk clinic. Methods: An updated family history was collected and compared to that previously reported in the literature. Results: An updated pedigree revealed new cases of breast, ovarian and primary peritioneal cancers in the second and third generations. A 39 year old woman diagnosed with a glioblastoma was also discovered. No family members had undergone genetic testing, however, analyses of the APC and BRCA genes are underway. Conclusions: The presence of multiple newly reported cases of breast and ovarian cancers within Family A raises concern for two independent cancer predisposition syndromes, Hereditary Breast and Ovarian Cancer Susceptibility syndrome (HBOCS) as well as Familial Adenomatous Polyposis (FAP). Though rarely gynecological tumors have been reported in FAP, this case emphasizes the need for practitioners to be aware of the potential presence of multiple hereditary cancer syndromes in one family. The dynamic changes in the pedigree of Family A underscore the importance of continued follow up for cancer families in which the underlying etiology is unknown. Such families should be followed in cancer genetics clinics to update family histories, ensure that appropriate screening regimens are followed, and to offer genetic testing if the appropriate analysis becomes available. No significant financial relationships to disclose.