Genetics of familial paragangliomas - Past, present, and future

Genetic studies of hereditary paraganglioma tumors could increase the under standing of the biology of these fascinating tumors, with important clinica l implications for diagnosis and treatment. This article focuses on the gen etics of paraganglioma tumors, with limited reference to their general morp hologic and clinical aspects. The paraganglioma tumor phenotype is defined. The genetic and physical mapping studies recently performed are summarized -studies that eventually led to the discovery of the gene for hereditary pa raganglioma type 1 (PGL1). Finally, future directions stemming from the PGL gene discovery are described.