Source:http://linkedlifedata.com/resource/pubmed/id/21626334
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2011-5-31
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pubmed:abstractText |
We herein report the case of a patient with Li-Fraumeni syndrome (LFS) who developed lung pleomorphic carcinoma. A 28-year-old female patient with a family history of early-onset malignancies was diagnosed with lung carcinoma and treated by surgical resection. Histological examination revealed a heterogeneous tumor with epithelial and mesenchymal components. The final pathological diagnosis was pulmonary pleomorphic carcinoma. In this patient, a constitutional mutation at codon 213 in exon 6 of the p53 gene was identified in the peripheral lymphocytes and the resected tumor, and LFS was suspected. This mutation causes a nonsense mutation (Arg-to-Stop codon) that has been shown to attenuate p53 function. This is the first report of pulmonary pleomorphic carcinoma developing in an LFS patient, and may suggest a relationship between germline p53 mutation and carcinogenesis in pulmonary pleomorphic carcinoma.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1436-2813
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
841-5
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pubmed:meshHeading | |
pubmed:year |
2011
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pubmed:articleTitle |
Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case.
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pubmed:affiliation |
Department of Thoracic Surgery, Sapporo Minami-sanjo Hospital, S3, W6, Chuo-ku, Sapporo, 060-0063, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
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