SHOULD ENDOLYMPHATIC SAC TUMORS BE CONSIDERED PART OF THE VONHIPPEL-LINDAU COMPLEX - PATHOLOGY CASE-REPORT

OBJECTIVE: Von Hippel-Lindau (vHL) disease is an inherited disorder ch aracterized by numerous cystic and solid neoplasms. Because of the rec ent identification of the vHL gene, other investigators have demonstra ted genetic mutations in this gene in several of the neoplasms associa ted with the disease. We describe a patient with an endolymphatic sac (ELS) tumor and vHL disease. The purpose of this study was to identify a similar genetic mutation within the vHL gene of the ELS tumor. METH ODS: Using the patient's archival pathological slides, neoplastic cell s were microdissected to yield a purely neoplastic cell population. Th e deoxyribonucleic acid of these cells was then extracted and amplifie d via polymerase chain reaction. After sufficient amplification, the s pecimen was analyzed on a single-strand conformation polymorphism gel system to detect putative changes in the base sequence. RESULTS: Singl e-strand conformation polymorphism gel system analysis yielded two ban ds representing the two single strands of deoxyribonucleic acid that w ere amplified. The upper band of the specimen was shifted down (compar ed with controls), representing a conformational change as a result of genetic mutation.CONCLUSION: ELS tumors are uncommon, and, to our kno wledge, only seven cases associated with vHL disease have been reporte d in the literature. Although this association has been previously men tioned, no definitive studies have linked the two together. We report the eighth case of ELS tumor and vHL disease. We have demonstrated thr ough molecular biological techniques, that, in our patient's tumor, a genetic mutation occurred, and that this mutation is similar to mutati ons previously reported in other neoplasms associated with vHL. We the refore suggest that ELS tumors be considered among the neoplasms assoc iated with vHL.