Source:http://linkedlifedata.com/resource/pubmed/id/18423895
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
2008-7-21
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:issn |
0344-0338
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
204
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
599-606
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| pubmed:meshHeading |
pubmed-meshheading:18423895-Adenocarcinoma,
pubmed-meshheading:18423895-Adult,
pubmed-meshheading:18423895-Aged,
pubmed-meshheading:18423895-DNA Mutational Analysis,
pubmed-meshheading:18423895-Ear, Middle,
pubmed-meshheading:18423895-Ear Neoplasms,
pubmed-meshheading:18423895-Endolymphatic Sac,
pubmed-meshheading:18423895-Exons,
pubmed-meshheading:18423895-Female,
pubmed-meshheading:18423895-Gene Expression Regulation, Neoplastic,
pubmed-meshheading:18423895-Genetic Predisposition to Disease,
pubmed-meshheading:18423895-Humans,
pubmed-meshheading:18423895-Introns,
pubmed-meshheading:18423895-Neoplasm Invasiveness,
pubmed-meshheading:18423895-Pedigree,
pubmed-meshheading:18423895-Point Mutation,
pubmed-meshheading:18423895-Skull Neoplasms,
pubmed-meshheading:18423895-Temporal Bone,
pubmed-meshheading:18423895-Von Hippel-Lindau Tumor Suppressor Protein,
pubmed-meshheading:18423895-von Hippel-Lindau Disease
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene.
|
| pubmed:affiliation |
Department of Pathology, Medical Faculty of Charles University, Pilsen, Czech Republic. skalova@fnplzen.cz
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| pubmed:publicationType |
Journal Article,
Case Reports
|