Endolymphatic sac tumor with von Hippel–Lindau disease: report of a case with analysis of von Hippel–Lindau gene and review

Abstract 

Endolymphatic sac tumors (ELSTs) are very rare and locally aggressive low-grade neoplasm of endolymphatic system origin, which are associated with von Hippel–Lindau (VHL) disease. Evidence suggests that the specific VHL alteration influences the phenotype. Because of the rarity of ELSTs, only a small number of cases have been subjected to molecular genetic analysis. The correlation between ELSTs and the genotype of VHL remains unclear. Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST. Using the polymerase chain reaction–single-strand conformation polymorphism sequencing techniques, a germline mutation was identified as IVS1 + 1G→A at position 553 + 1. The mutation found in this case has not been previously reported in ELSTs. It is hoped that the study would contribute to a better understanding of ELSTs and the correlation between ELSTs and the genotype of VHL.

Keywords: Endolymphatic sac tumor, Aggressive papillary middle ear tumor, von Hippel–Lindau disease, VHL gene analysis