Source:http://linkedlifedata.com/resource/pubmed/id/18800617
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
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pubmed:dateCreated |
2008-9-19
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pubmed:abstractText |
A 54-year-old man, who had been diagnosed with Loeys-Dietz syndrome based on his past history, family history, clinical findings, and the presence of a gene mutation, was referred to our hospital because of easy fatigability. Anemia, thrombocytopenia, and blasts in his peripheral blood were noted, and 31.4% blasts were found in a bone marrow aspiration. The blasts were positive for myeloperoxidase and esterase staining. Furthermore, karyotype analysis of bone marrow cells showed t(11;19)(q23;p13.1) and MLL abnormality was detected on RT-PCR A diagnosis of acute myeloid leukemia (M4) with 11q23 (MLL) abnormality was made. Loeys-Dietz syndrome is a Marfan-like congenital connective tissue disorder caused by a heterozygous missense mutation of a TGF-beta receptor I or II gene. The TGF-beta family inhibits the proliferation of normal epithelial cells and induces apoptosis, and is therefore known as a tumor suppressor factor. In this article, we discussed the association between Loeys-Dietz syndrome with a TGF-beta receptor gene mutation and cancer.
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pubmed:language |
jpn
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0485-1439
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
664-7
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pubmed:meshHeading |
pubmed-meshheading:18800617-Antineoplastic Combined Chemotherapy Protocols,
pubmed-meshheading:18800617-Cytarabine,
pubmed-meshheading:18800617-Humans,
pubmed-meshheading:18800617-Idarubicin,
pubmed-meshheading:18800617-Leukemia, Myeloid, Acute,
pubmed-meshheading:18800617-Male,
pubmed-meshheading:18800617-Marfan Syndrome,
pubmed-meshheading:18800617-Middle Aged,
pubmed-meshheading:18800617-Mutation, Missense,
pubmed-meshheading:18800617-Receptors, Transforming Growth Factor beta,
pubmed-meshheading:18800617-Remission Induction,
pubmed-meshheading:18800617-Translocation, Genetic
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pubmed:year |
2008
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pubmed:articleTitle |
[Loeys-Dietz syndrome with acute myeloid leukemia].
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pubmed:affiliation |
Division of Hematology, Department of Internal Medicine, Sumitomo Hospital.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
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