Mutation of von Hippel-Lindau tumor suppressor gene in a sporadic endolymphatic sac tumor

Endolymphatic sac tumor (ELST) is a low-grade adenocarcinoma of the tempora l bone that is presumed to originate from the endolymphatic system. Althoug h ELSTs are extremely rare in the general population, a significant number of studies have documented the occurrence of ELST among patients with von H ippel-Lindau (VHL) disease. Because of the rarity of the tumor, however, fe w cases of ELST have been analyzed for mutations of the VHL tumor suppresso r gene. In this study, we reported a Japanese male patient with sporadic EL ST, along with a molecular genetic analysis of the VHL gene. The light micr oscopic and immunohistochemical features and clinical presentations were ty pical of ELST. Sequencing studies of the tumor DNA disclosed a G to T subst itution of nucleotide 564, which resulted in an amino acid substitution (Tr p to Cys). This is the first report of the VHL gene mutation in a sporadic Japanese case of ELST. Hum PATHOL 32:1272-1276. Copyright (C) 2001 by W.B. Saunders Company.