Source:http://linkedlifedata.com/resource/pubmed/id/16646086
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
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| pubmed:dateCreated |
2006-6-7
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| pubmed:abstractText |
The t(7;12)(q36;p13) is a recurrent translocation involving the ETV6/TEL gene (12p13) and a heterogeneous breakpoint at 7q36. A fusion transcript between HLXB9 and ETV6 in AML with t(7;12) is occasionally found. To study the incidence of t(7;12) in infant and childhood acute leukemia, we screened 320 cases <36 months using FISH. Additionally, 28 pediatric cases >36 months with cytogenetic breakpoints at 12p and 7q were investigated. We studied the presence of an HXLB9-ETV6 fusion transcript and quantified the expression of various genes located in the 7q36 breakpoint region. In total, six AML patients carried the t(7;12) of which five were infants and one child of 18 months. Only one out of 99 infant ALL patients harbored the t(7;12). No t(7;12) was found in older children with AML or ALL. AML patients carrying a t(7;12) had a poor outcome with a 3-year EFS of 0%. A fusion of HLXB9 to ETV6 was found in four AML cases with t(7;12). The 7q36 genes NOM1, LMBR1, RNF32, and SHH were equally expressed among t(7;12)-positive AML versus t(7;12)-negative AML, t(7;12)-negative ALL, or normal bone marrow. However, the HLXB9 expression was highly increased in t(7;12)-positive cases, including those with an HLXB9-ETV6 fusion. We conclude that the t(7;12) is almost exclusively present in infant AML and covers 30% of infant AML, while it is extremely rare in infant ALL and older children. The t(7;12) is associated with a poor outcome and an ectopic expression of HLXB9 is commonly involved in this genetic subtype of leukemia.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/ETS translocation variant 6 protein,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MNX1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins, Fusion,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins c-ets,
http://linkedlifedata.com/resource/pubmed/chemical/Repressor Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
|
| pubmed:issn |
1045-2257
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
45
|
| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
731-9
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| pubmed:dateRevised |
2008-9-13
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| pubmed:meshHeading |
pubmed-meshheading:16646086-Acute Disease,
pubmed-meshheading:16646086-Child, Preschool,
pubmed-meshheading:16646086-Chromosome Breakage,
pubmed-meshheading:16646086-Chromosomes, Human, Pair 12,
pubmed-meshheading:16646086-Chromosomes, Human, Pair 7,
pubmed-meshheading:16646086-Cohort Studies,
pubmed-meshheading:16646086-Female,
pubmed-meshheading:16646086-Homeodomain Proteins,
pubmed-meshheading:16646086-Humans,
pubmed-meshheading:16646086-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16646086-Infant,
pubmed-meshheading:16646086-Infant, Newborn,
pubmed-meshheading:16646086-Leukemia, Myeloid,
pubmed-meshheading:16646086-Male,
pubmed-meshheading:16646086-Models, Genetic,
pubmed-meshheading:16646086-Oncogene Proteins, Fusion,
pubmed-meshheading:16646086-Precursor Cell Lymphoblastic Leukemia-Lymphoma,
pubmed-meshheading:16646086-Proto-Oncogene Proteins c-ets,
pubmed-meshheading:16646086-Repressor Proteins,
pubmed-meshheading:16646086-Transcription Factors,
pubmed-meshheading:16646086-Translocation, Genetic
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| pubmed:year |
2006
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| pubmed:articleTitle |
High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.
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| pubmed:affiliation |
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. a.vonbergh@erasmusmc.nl
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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