The Pathology of von Hippel-Lindau DiseaseGuo, Juan MD, PhD*; McKenney, Jesse K. MD*†AJSP: Reviews & Reports: March/April 2014 - Volume 19 - Issue 2 - p 49–56 doi: 10.1097/PCR.0000000000000023 Review Abstract Author Information As genetic testing has improved and become more readily available, the identification of patients with clinically subtle forms of familial neoplasia syndromes has increased. Given the phenotypic variability of von Hippel-Lindau disease, the age-dependent penetrance, and the possibility of de novo mutations, a surgical pathologist may be the first physician to suspect an underlying syndromic association when faced with a routine specimen in the course of daily practice. Therefore, it is of great importance for surgical pathologists to be aware of specific histological features and clinicopathologic associations that may suggest the possibility of a familial neoplasia syndrome to allow for appropriate genetic investigations. This review highlights the distinct clinical and pathologic features of von Hippel-Lindau disease–associated neoplasia for the practicing surgical pathologist and includes central nervous system, kidney, pancreas, adrenal, inner/middle ear, and epididymal manifestations. From the *Genitourinary Section, Department of Anatomic Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute; and †Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH. Reprints: Jesse K. McKenney, MD, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, 9500 Euclid Ave, L25, Cleveland, OH 44195. E-mail: email@example.com. The authors have no funding or conflicts to declare. © 2014 by Lippincott Williams & Wilkins.