| pubmed-article:20064152 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C1335654 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0023467 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0026986 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0040715 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C1522702 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0599718 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0599813 | lld:lifeskim |
| pubmed-article:20064152 | lifeskim:mentions | umls-concept:C0599893 | lld:lifeskim |
| pubmed-article:20064152 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:20064152 | pubmed:dateCreated | 2010-5-4 | lld:pubmed |
| pubmed-article:20064152 | 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. | lld:pubmed |
| pubmed-article:20064152 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20064152 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20064152 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20064152 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20064152 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20064152 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20064152 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20064152 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:20064152 | pubmed:issn | 1365-2141 | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:CunninghamJoa... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:SalesMarkM | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:GrovesMichael... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:PrattNormanN | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:PaulssonKajsa... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:McMullanDomin... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:FosterNicolaN | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:GriffithsMich... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:TauroSudhirS | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:O'ConnorNigel... | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:BegumSuriyaS | lld:pubmed |
| pubmed-article:20064152 | pubmed:author | pubmed-author:StubbsTracyT | lld:pubmed |
| pubmed-article:20064152 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20064152 | pubmed:volume | 148 | lld:pubmed |
| pubmed-article:20064152 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20064152 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20064152 | pubmed:pagination | 938-43 | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:meshHeading | pubmed-meshheading:20064152... | lld:pubmed |
| pubmed-article:20064152 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20064152 | pubmed:articleTitle | Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia. | lld:pubmed |
| pubmed-article:20064152 | pubmed:affiliation | Department of Cytogenetics, Ninewells Hospital and Medical School, Dundee, UK. | lld:pubmed |
| pubmed-article:20064152 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20064152 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
