Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
Identifieur interne : 001902 ( Pmc/Curation ); précédent : 001901; suivant : 001903Simultaneous 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
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<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)
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