title: Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene.
abstract: Endolymphatic sac tumor (Heffner tumor) (ELST) is a very rare nonmetastasizing, locally aggressive low-grade adenocarcinoma of endolymphatic sac origin, which is linked to von-Hippel-Lindau disease (VHLD). VHLD is an autosomal dominant disorder characterized by an inherited genetic abnormality of the VHL gene located on the short arm of chromosome 3 (3p26-p25). VHL gene mutations have been shown both in ELSTs associated with VHLD and in sporadic cases. Because of the rarity of ELST, only a small number of cases have been subjected to molecular genetic analysis. We have encountered two patients with ELST, one of whom presented with a medical and family history of VHLD. The second was a sporadic case, the patient having no symptoms of VHLD. The tissues obtained from Heffner tumor and cerebellar hemangioblastoma from the patient with inherited VHLD possess a point mutation in exon 1 of VHL gene. This mutation is a C to T exchange at position 194, resulting in amino acid exchange S65L. No mutation was found in any of the three exons analyzed and in the exon-intron junctions of the VHL gene in the sporadic case.
authors.affiliation: Department of Pathology, Medical Faculty of Charles University, Pilsen, Czech Republic. skalova@fnplzen.cz
authors.forename: A
authors.initials: A
authors.lastname: Skalova
authors.forename: R
authors.initials: R
authors.lastname: Síma
authors.forename: P
authors.initials: P
authors.lastname: Bohus
authors.forename: R
authors.initials: R
authors.lastname: Curík
authors.forename: J
authors.initials: J
authors.lastname: Lukás
authors.forename: M
authors.initials: M
authors.lastname: Michal
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004428:Ear Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004432:Ear, Middle / Q000473:pathology* / Q000601:surgery; D004712:Endolymphatic Sac / Q000473:pathology* / Q000601:surgery; D005091:Exons; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D009361:Neoplasm Invasiveness; D010375:Pedigree; D017354:Point Mutation; D012888:Skull Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013701:Temporal Bone / Q000473:pathology* / Q000601:surgery; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human