Eugen von Hippel and Arvid Lindau

Abstract

An autosomal dominant familial cancer syndrome, von Hippel–Lindau (vHL), affects numerous organs, most prominently the central nervous system (angiomas and hemangioblastomas), the ear (endolymphatic sac tumors), the pancreas (cysts, microcystic adenomas, pancreatic neuroendocrine tumors), the adrenal glands (pheochromocytomas), and the kidneys (cysts and renal cell carcinoma). For over a century, our understanding of this disease has evolved from observational and linkage analysis to a more complete genetic and molecular picture of the pathogenesis of the syndrome. Recommendations for screening (clinical, imaging, and genetic) and management have evolved and new agents are being developed and are the subject of clinical trials. With all these advances, it is important to understand how this inherited cancer syndrome was first recognized and to appreciate the physicians whose astute observations laid the foundation for our current approaches and advances.