Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?
Identifieur interne : 009F45 ( Main/Exploration ); précédent : 009F44; suivant : 009F46Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?
Auteurs : J N Berg [Royaume-Uni] ; J W Walter [États-Unis] ; U. Thisanagayam [Royaume-Uni] ; M. Evans [Royaume-Uni] ; F. Blei [États-Unis] ; M. Waner [États-Unis] ; A G Diamond [Royaume-Uni] ; D A Marchuk [États-Unis] ; M E Porteous [Royaume-Uni]Source :
- Journal of Clinical Pathology [ 0021-9746 ] ; 2001-03.
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Abstract
Background/Aims—Haemangiomas are common benign tumours of infancy that consist of rapidly proliferating endothelial cells. A locus for an autosomal dominant predisposition to haemangioma has been identified recently on chromosome 5q. This study aimed to investigate loss of heterozygosity on chromosomes 5 and 9 in haemangiomas. Methods—Sporadic proliferative phase haemangiomas were microdissected. Polymerase chain reaction amplification and analysis of microsatellite markers on chromosomes 5 and 9 was carried out. Results—There was a significant loss of heterozygosity for markers on chromosome 5q in haemangioma tissue, when compared with either markers from chromosome 5p (p < 0.05) or markers from chromosome 9 (p < 0.05). Conclusions—These results suggest that haemangioma formation might be associated with somatic mutational events, and provides evidence that a locus on 5q is involved in the formation of sporadic haemangiomas.
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- https://api.istex.fr/document/2CC98451165CD944AF1919E185115F61FB9CFB58/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731365
DOI: 10.1136/jcp.54.3.249
Affiliations:
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Thisanagayam</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South-East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU</wicri:regionArea><wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion></affiliation></author><author><name sortKey="Evans, M" sort="Evans, M" uniqKey="Evans M" first="M" last="Evans">M. Evans</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pathology, Sheffield Children's Hospital, Sheffield</wicri:regionArea><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Blei, F" sort="Blei, F" uniqKey="Blei F" first="F" last="Blei">F. Blei</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Plastic Surgery, New York University Centre, New York NY10016</wicri:regionArea><wicri:noRegion>New York NY10016</wicri:noRegion></affiliation></author><author><name sortKey="Waner, M" sort="Waner, M" uniqKey="Waner M" first="M" last="Waner">M. Waner</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Otolarygology, University of Arkansas Medical Centre, Little Rock, Arkansas AR72205</wicri:regionArea><wicri:noRegion>Arkansas AR72205</wicri:noRegion></affiliation></author><author><name sortKey="Diamond, A G" sort="Diamond, A G" uniqKey="Diamond A" first="A G" last="Diamond">A G Diamond</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Microbiology and Immunology, Medical School, University of Newcastle upon Tyne, Newcastle NE2 4HH</wicri:regionArea><wicri:noRegion>Newcastle NE2 4HH</wicri:noRegion></affiliation></author><author><name sortKey="Marchuk, D A" sort="Marchuk, D A" uniqKey="Marchuk D" first="D A" last="Marchuk">D A Marchuk</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Duke University, Durham, North Carolina NC27710</wicri:regionArea><wicri:noRegion>North Carolina NC27710</wicri:noRegion></affiliation></author><author><name sortKey="Porteous, M E" sort="Porteous, M E" uniqKey="Porteous M" first="M E" last="Porteous">M E Porteous</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South-East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU</wicri:regionArea><wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Clinical Pathology</title><title level="j" type="abbrev">J Clin Pathol</title><idno type="ISSN">0021-9746</idno><idno type="eISSN">1472-4146</idno><imprint><publisher>BMJ Publishing Group Ltd and Association of Clinical Pathologists</publisher><date type="published" when="2001-03">2001-03</date><biblScope unit="volume">54</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="249">249</biblScope></imprint><idno type="ISSN">0021-9746</idno></series><idno type="istex">2CC98451165CD944AF1919E185115F61FB9CFB58</idno><idno type="DOI">10.1136/jcp.54.3.249</idno><idno type="href">jclinpath-54-249.pdf</idno><idno type="PMID">11253142</idno><idno type="local">0540249</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0021-9746</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>chromosome 5</term><term>haemangioma</term><term>loss of heterozygosity</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background/Aims—Haemangiomas are common benign tumours of infancy that consist of rapidly proliferating endothelial cells. A locus for an autosomal dominant predisposition to haemangioma has been identified recently on chromosome 5q. This study aimed to investigate loss of heterozygosity on chromosomes 5 and 9 in haemangiomas. Methods—Sporadic proliferative phase haemangiomas were microdissected. Polymerase chain reaction amplification and analysis of microsatellite markers on chromosomes 5 and 9 was carried out. Results—There was a significant loss of heterozygosity for markers on chromosome 5q in haemangioma tissue, when compared with either markers from chromosome 5p (p < 0.05) or markers from chromosome 9 (p < 0.05). Conclusions—These results suggest that haemangioma formation might be associated with somatic mutational events, and provides evidence that a locus on 5q is involved in the formation of sporadic haemangiomas.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Berg, J N" sort="Berg, J N" uniqKey="Berg J" first="J N" last="Berg">J N Berg</name></noRegion><name sortKey="Diamond, A G" sort="Diamond, A G" uniqKey="Diamond A" first="A G" last="Diamond">A G Diamond</name><name sortKey="Evans, M" sort="Evans, M" uniqKey="Evans M" first="M" last="Evans">M. Evans</name><name sortKey="Porteous, M E" sort="Porteous, M E" uniqKey="Porteous M" first="M E" last="Porteous">M E Porteous</name><name sortKey="Thisanagayam, U" sort="Thisanagayam, U" uniqKey="Thisanagayam U" first="U" last="Thisanagayam">U. Thisanagayam</name></country><country name="États-Unis"><noRegion><name sortKey="Walter, J W" sort="Walter, J W" uniqKey="Walter J" first="J W" last="Walter">J W Walter</name></noRegion><name sortKey="Blei, F" sort="Blei, F" uniqKey="Blei F" first="F" last="Blei">F. Blei</name><name sortKey="Marchuk, D A" sort="Marchuk, D A" uniqKey="Marchuk D" first="D A" last="Marchuk">D A Marchuk</name><name sortKey="Waner, M" sort="Waner, M" uniqKey="Waner M" first="M" last="Waner">M. Waner</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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