Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review.
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.
Rao
Qiu
Q
Department of Pathology, Clinical School of Medical College of Nanjing University/Nanjing Jinling Hospital, Jiangsu, China.
Zhou
Jing
J
Wang
Jian-dong
JD
Jin
Xing-zao
XZ
Ma
Heng-hui
HH
Lu
Zhen-feng
ZF
Zhou
Xiao-jun
XJ
D000328:Adult; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004712:Endolymphatic Sac / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology*
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human