Source:http://linkedlifedata.com/resource/pubmed/id/20064152
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2010-5-4
|
| pubmed:abstractText |
A proportion of cytogenetic abnormalities in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) may escape detection by high-resolution genomic technologies, but can be identified by conventional cytogenetic and molecular analysis. Here, we report the detection of a reciprocal translocation t(7;21)(p22;q22) in the marrow of two adults with MDS and AML, using conventional cytogenetic analysis and fluorescence-in situ-hybridization (FISH). Reverse-transcription polymerase chain reaction (RT-PCR) and sequence analysis identified a fusion between RUNX1 and the gene encoding ubiquitin specific peptidase-42 (USP42), with splice-variants and variable break-points within RUNX1. Combined cytomorphology and FISH studies in MDS marrow revealed abnormal RUNX1 signals within megakaryocytes, suggesting that the acquisition of t(7;21)(p22;q22) does not confer complete differentiation arrest and may represent an early genetic event in leukaemogenesis. Single nucleotide polymorphism-arrays failed to detect additional sub-microscopic genomic changes predisposing to or associated with t(7;21). Molecular analysis of 100 MDS and AML marrow specimens by RT-PCR did not reveal new cases with the RUNX1-USP42 fusion. Thus, our studies have identified t(7;21)(p22;q22) as a rare but recurrent abnormality in MDS/AML, with the existence of alternative spliced forms of the RUNX1-USP42 transcript in different patients. Further studies are required to identify the potential contribution of these splice-variants to disease heterogeneity.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1365-2141
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| pubmed:author |
pubmed-author:BegumSuriyaS,
pubmed-author:CunninghamJoanJ,
pubmed-author:FosterNicolaN,
pubmed-author:GriffithsMichaelM,
pubmed-author:GrovesMichaelM,
pubmed-author:McMullanDominic JDJ,
pubmed-author:O'ConnorNigelN,
pubmed-author:PaulssonKajsaK,
pubmed-author:PrattNormanN,
pubmed-author:SalesMarkM,
pubmed-author:StubbsTracyT,
pubmed-author:TauroSudhirS
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
148
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
938-43
|
| pubmed:meshHeading |
pubmed-meshheading:20064152-Aged,
pubmed-meshheading:20064152-Child,
pubmed-meshheading:20064152-Chromosomes, Human, Pair 21,
pubmed-meshheading:20064152-Chromosomes, Human, Pair 7,
pubmed-meshheading:20064152-Core Binding Factor Alpha 2 Subunit,
pubmed-meshheading:20064152-Female,
pubmed-meshheading:20064152-Humans,
pubmed-meshheading:20064152-In Situ Hybridization, Fluorescence,
pubmed-meshheading:20064152-Leukemia, Myeloid, Acute,
pubmed-meshheading:20064152-Male,
pubmed-meshheading:20064152-Myelodysplastic Syndromes,
pubmed-meshheading:20064152-Neoplasm Proteins,
pubmed-meshheading:20064152-Polymorphism, Single Nucleotide,
pubmed-meshheading:20064152-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:20064152-Translocation, Genetic
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.
|
| pubmed:affiliation |
Department of Cytogenetics, Ninewells Hospital and Medical School, Dundee, UK.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|