AustralieFrV1, Main, Exploration, bibRecord, 00CA13

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Identifieur interne : 00CA13 ( Main/Exploration ); précédent : 00CA12; suivant : 00CA14

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Auteurs : Bin T. Teh [Australie, Suède] ; Elizabeth Blennow [Suède] ; Sophie Giraud S [France] ; Sigrid Sahlén [Suède] ; Su I. Hii [Australie] ; Ross Brookwell [Australie] ; Hiltrud Brauch [Allemagne] ; Magnus Nordenskjöld [Suède] ; Catharina Larsson [Suède] ; David Nicol [Australie]

Source :

Genes, Chromosomes and Cancer [ 1045-2257 ] ; 1998-03.

RBID : ISTEX:E7DE088CF078AD97987CC6CB0378BDF58F94C3A6

English descriptors

Abstract

We report here on a patient with bilateral multifocal renal oncocytomas and cysts. Cytogenetic analysis of the patient's lymphocytes revealed a constitutional 46,XY,add (9)(q34.3) karyotype. The rearrangement was further resolved as a constitutional reciprocal t(8;9)(q24.1;q34.3) by microdissection and FISH. Because the 9q breakpoint was located in the same region as the tuberous sclerosis type 1 locus (TSC1), which is associated with renal tumors, we performed FISH with two TSC1 flanking cosmids that were mapped proximal to the 9q breakpoint, thus excluding its involvement. Loss of heterozygosity (LOH) studies of the tumors revealed LOH in chromosome 1, further strengthening the molecular diagnosis of oncocytoma. A previously unreported germline missense substitution, Pro40Arg, in exon 1 of the VHL gene was also found in the patient's constitutional DNA, adding to the complexity of the genetic profile. Genes Chromosomes Cancer 21:260–264, 1998. © 1998 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/E7DE088CF078AD97987CC6CB0378BDF58F94C3A6/fulltext/pdf

DOI: 10.1002/(SICI)1098-2264(199803)21:3<260::AID-GCC12>3.0.CO;2-T

Affiliations:

Allemagne, Australie, France, Suède
Auvergne-Rhône-Alpes, Rhône-Alpes, Svealand
Lyon, Stockholm

Links toward previous steps (curation, corpus...)

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to stream Istex, to step Checkpoint: 002372
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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aberrant band</term>
<term>Aberrant chromosome</term>
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<term>Breakpoint</term>
<term>Carcinoma</term>
<term>Cell carcinoma</term>
<term>Chromosome</term>
<term>Chromosome library</term>
<term>Chromosome microdissection</term>
<term>Cosmid</term>
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<term>Genet</term>
<term>Homogeneous cells</term>
<term>Lerman</term>
<term>Metaphase cell</term>
<term>Microdissected library</term>
<term>Multifocal</term>
<term>Mutation</term>
<term>Mutation analysis</term>
<term>Normal control</term>
<term>Normal findings</term>
<term>Oncocytoma</term>
<term>Oncocytomas</term>
<term>Princess alexandra hospital</term>
<term>Reciprocal translocation</term>
<term>Renal</term>
<term>Renal oncocytomas</term>
<term>Renal tumors</term>
<term>Same region</term>
<term>Suppressor</term>
<term>Translocation</term>
<term>Tsc1</term>
<term>Tsc1 locus</term>
<term>Tsc1 region</term>
<term>Tuberous sclerosis type</term>
<term>Tumor suppressor gene</term>
<term>Upper pole</term>
<term>Zbar</term>
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<keywords scheme="Teeft" xml:lang="en"><term>Aberrant band</term>
<term>Aberrant chromosome</term>
<term>Bilateral</term>
<term>Bilateral multifocal</term>
<term>Breakpoint</term>
<term>Carcinoma</term>
<term>Cell carcinoma</term>
<term>Chromosome</term>
<term>Chromosome library</term>
<term>Chromosome microdissection</term>
<term>Cosmid</term>
<term>Cosmid contigs</term>
<term>Distal part</term>
<term>Fhit gene</term>
<term>Genet</term>
<term>Homogeneous cells</term>
<term>Lerman</term>
<term>Metaphase cell</term>
<term>Microdissected library</term>
<term>Multifocal</term>
<term>Mutation</term>
<term>Mutation analysis</term>
<term>Normal control</term>
<term>Normal findings</term>
<term>Oncocytoma</term>
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<term>Reciprocal translocation</term>
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<front><div type="abstract" xml:lang="en">We report here on a patient with bilateral multifocal renal oncocytomas and cysts. Cytogenetic analysis of the patient's lymphocytes revealed a constitutional 46,XY,add (9)(q34.3) karyotype. The rearrangement was further resolved as a constitutional reciprocal t(8;9)(q24.1;q34.3) by microdissection and FISH. Because the 9q breakpoint was located in the same region as the tuberous sclerosis type 1 locus (TSC1), which is associated with renal tumors, we performed FISH with two TSC1 flanking cosmids that were mapped proximal to the 9q breakpoint, thus excluding its involvement. Loss of heterozygosity (LOH) studies of the tumors revealed LOH in chromosome 1, further strengthening the molecular diagnosis of oncocytoma. A previously unreported germline missense substitution, Pro40Arg, in exon 1 of the VHL gene was also found in the patient's constitutional DNA, adding to the complexity of the genetic profile. Genes Chromosomes Cancer 21:260–264, 1998. © 1998 Wiley‐Liss, Inc.</div>
</front>
</TEI>
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<li>Suède</li>
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<country name="Allemagne"><noRegion><name sortKey="Brauch, Hiltrud" sort="Brauch, Hiltrud" uniqKey="Brauch H" first="Hiltrud" last="Brauch">Hiltrud Brauch</name>
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Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri