Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
Identifieur interne : 001903 ( Pmc/Corpus ); précédent : 001902; suivant : 001904Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
Auteurs : E K Pivnick ; W L Furman ; G V Velagaleti ; J J Jenkins ; N A Chase ; R C RibeiroSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1998.
Abstract
The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.
Url:
PubMed: 9598730
PubMed Central: 1051284
Links to Exploration step
PMC:1051284Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.</title>
<author><name sortKey="Pivnick, E K" sort="Pivnick, E K" uniqKey="Pivnick E" first="E K" last="Pivnick">E K Pivnick</name>
</author>
<author><name sortKey="Furman, W L" sort="Furman, W L" uniqKey="Furman W" first="W L" last="Furman">W L Furman</name>
</author>
<author><name sortKey="Velagaleti, G V" sort="Velagaleti, G V" uniqKey="Velagaleti G" first="G V" last="Velagaleti">G V Velagaleti</name>
</author>
<author><name sortKey="Jenkins, J J" sort="Jenkins, J J" uniqKey="Jenkins J" first="J J" last="Jenkins">J J Jenkins</name>
</author>
<author><name sortKey="Chase, N A" sort="Chase, N A" uniqKey="Chase N" first="N A" last="Chase">N A Chase</name>
</author>
<author><name sortKey="Ribeiro, R C" sort="Ribeiro, R C" uniqKey="Ribeiro R" first="R C" last="Ribeiro">R C Ribeiro</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">9598730</idno>
<idno type="pmc">1051284</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051284</idno>
<idno type="RBID">PMC:1051284</idno>
<date when="1998">1998</date>
<idno type="wicri:Area/Pmc/Corpus">001903</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001903</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.</title>
<author><name sortKey="Pivnick, E K" sort="Pivnick, E K" uniqKey="Pivnick E" first="E K" last="Pivnick">E K Pivnick</name>
</author>
<author><name sortKey="Furman, W L" sort="Furman, W L" uniqKey="Furman W" first="W L" last="Furman">W L Furman</name>
</author>
<author><name sortKey="Velagaleti, G V" sort="Velagaleti, G V" uniqKey="Velagaleti G" first="G V" last="Velagaleti">G V Velagaleti</name>
</author>
<author><name sortKey="Jenkins, J J" sort="Jenkins, J J" uniqKey="Jenkins J" first="J J" last="Jenkins">J J Jenkins</name>
</author>
<author><name sortKey="Chase, N A" sort="Chase, N A" uniqKey="Chase N" first="N A" last="Chase">N A Chase</name>
</author>
<author><name sortKey="Ribeiro, R C" sort="Ribeiro, R C" uniqKey="Ribeiro R" first="R C" last="Ribeiro">R C Ribeiro</name>
</author>
</analytic>
<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="1998">1998</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><graphic xlink:href="jmedgene00233-0065-a" xlink:role="329"></graphic>
</fig>
<fig id="F2"><graphic xlink:href="jmedgene00233-0065-b" xlink:role="329"></graphic>
</fig>
<fig id="F3"><graphic xlink:href="jmedgene00233-0065-c" xlink:role="329"></graphic>
</fig>
<fig id="F4"><graphic xlink:href="jmedgene00233-0065-d" xlink:role="329"></graphic>
</fig>
<fig id="F5"><graphic xlink:href="jmedgene00233-0065-e" xlink:role="329"></graphic>
</fig>
<fig id="F6"><graphic xlink:href="jmedgene00233-0066-a" xlink:role="330"></graphic>
</fig>
<fig id="F7"><graphic xlink:href="jmedgene00233-0066-b" xlink:role="330"></graphic>
</fig>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of Medical Genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">9598730</article-id>
<article-id pub-id-type="pmc">1051284</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Pivnick</surname>
<given-names>E K</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Furman</surname>
<given-names>W L</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Velagaleti</surname>
<given-names>G V</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Jenkins</surname>
<given-names>J J</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Chase</surname>
<given-names>N A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ribeiro</surname>
<given-names>R C</given-names>
</name>
</contrib>
</contrib-group>
<aff>Division of Clinical Genetics, Department of Pediatrics, University of Tennessee, Memphis 38163, USA.</aff>
<pub-date pub-type="ppub"><month>4</month>
<year>1998</year>
</pub-date>
<volume>35</volume>
<issue>4</issue>
<fpage>328</fpage>
<lpage>332</lpage>
<abstract><p>The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><graphic xlink:href="jmedgene00233-0065-a" xlink:role="329"></graphic>
</fig>
<fig id="F2"><graphic xlink:href="jmedgene00233-0065-b" xlink:role="329"></graphic>
</fig>
<fig id="F3"><graphic xlink:href="jmedgene00233-0065-c" xlink:role="329"></graphic>
</fig>
<fig id="F4"><graphic xlink:href="jmedgene00233-0065-d" xlink:role="329"></graphic>
</fig>
<fig id="F5"><graphic xlink:href="jmedgene00233-0065-e" xlink:role="329"></graphic>
</fig>
<fig id="F6"><graphic xlink:href="jmedgene00233-0066-a" xlink:role="330"></graphic>
</fig>
<fig id="F7"><graphic xlink:href="jmedgene00233-0066-b" xlink:role="330"></graphic>
</fig>
</sec>
</abstract>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001903 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001903 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:1051284 |texte= Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:9598730" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |