A young male with coexisting astrocytoma and renal cell carcinoma.

ABSTRACT

Familial cancer syndrome is a genetic condition that causes an individual to be at increased risk for specific types of cancers. There are different familial cancer syndromes, each of which is associated with a specific set of characteristic cancers. Atypical presentations such as the combination of two types of cancers involving the same primary site with a slightly different pathology are not uncommon. The reason for such a high degree of phenotypic variation could be due to somatic mosaicisms which, although rare, have been reported in association with some of the familial cancer syndromes. We report a case of a 44-year-old Caucasian male with coexisting astrocytoma and Renal Cell Carcinoma (RCC), in whom the diagnosis of Von Hippel-Lindau (VHL) syndrome was considered. Although the patient tested negative for the classic VHL gene, the possibility of somatic mosaicism could not be ruled out. This case reflects the importance of having a high index of suspicion to screen the patients with more than one type of malignancies for familial cancer syndrome, as it may present with atypical features and the diagnosis of familial cancer syndrome has important implications in genetic counseling.