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Article: A complex MLL rearrangement identified five years after initial MDS diagnosis results in out-of-frame fusions without progression to acute leukemia

TitleA complex MLL rearrangement identified five years after initial MDS diagnosis results in out-of-frame fusions without progression to acute leukemia
Authors
Issue Date2011
PublisherElsevier Inc. The Journal's web site is located at http://www.cancergeneticsjournal.org
Citation
Cancer Genetics, 2011, v. 204 n. 10, p. 557-562 How to Cite?
AbstractChromosomal rearrangements of the MLL gene are uncommon in myelodysplastic syndromes (MDSs), and few studies of their molecular structures and oncogenic mechanisms exist. Here, we present a case of de novo MDS with a normal karyotype at initial diagnosis and a mild clinical course. Five years after the initial diagnosis, investigators identified a complex rearrangement of the MLL gene without progression to acute leukemia. The 5' part of the MLL gene is fused out of frame with the LOC100131626 gene, and the 3' part of the MLL gene out of frame with the TCF12 gene. Rapid amplification of complementary DNA 3' ends yielded two main fusion transcripts, which is in concordance with the two described isoforms of the LOC100131626 gene. For both isoform-fusion transcripts, the open reading frame terminates shortly after the breakpoint that is predicted to form two de facto truncated MLL proteins and disrupts the open reading frame of the LOC100131626, TCF12, and UBE4A genes. Neither dimerization nor a transcriptional activation domain, each of which is causally linked to MLL protein-mediated transformation, is present. This and other unusual MLL rearrangements probably represent a subclass of MLL gene abnormalities that have intrinsically no ability or only a weak ability to transform hematopoeitic cells and are identified only in the context of other hematopoetic malignancies.
Persistent Identifierhttp://hdl.handle.net/10722/164282
ISSN
2015 Impact Factor: 2.333
2015 SCImago Journal Rankings: 1.290
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMeyer, Cen_US
dc.contributor.authorKowarz, Een_US
dc.contributor.authorYip, SFen_US
dc.contributor.authorWan, TSKen_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorDingermann, Ten_US
dc.contributor.authorChan, LCen_US
dc.contributor.authorMarschalek, Ren_US
dc.date.accessioned2012-09-20T07:57:36Z-
dc.date.available2012-09-20T07:57:36Z-
dc.date.issued2011en_US
dc.identifier.citationCancer Genetics, 2011, v. 204 n. 10, p. 557-562en_US
dc.identifier.issn2210-7762-
dc.identifier.urihttp://hdl.handle.net/10722/164282-
dc.description.abstractChromosomal rearrangements of the MLL gene are uncommon in myelodysplastic syndromes (MDSs), and few studies of their molecular structures and oncogenic mechanisms exist. Here, we present a case of de novo MDS with a normal karyotype at initial diagnosis and a mild clinical course. Five years after the initial diagnosis, investigators identified a complex rearrangement of the MLL gene without progression to acute leukemia. The 5' part of the MLL gene is fused out of frame with the LOC100131626 gene, and the 3' part of the MLL gene out of frame with the TCF12 gene. Rapid amplification of complementary DNA 3' ends yielded two main fusion transcripts, which is in concordance with the two described isoforms of the LOC100131626 gene. For both isoform-fusion transcripts, the open reading frame terminates shortly after the breakpoint that is predicted to form two de facto truncated MLL proteins and disrupts the open reading frame of the LOC100131626, TCF12, and UBE4A genes. Neither dimerization nor a transcriptional activation domain, each of which is causally linked to MLL protein-mediated transformation, is present. This and other unusual MLL rearrangements probably represent a subclass of MLL gene abnormalities that have intrinsically no ability or only a weak ability to transform hematopoeitic cells and are identified only in the context of other hematopoetic malignancies.-
dc.languageengen_US
dc.publisherElsevier Inc. The Journal's web site is located at http://www.cancergeneticsjournal.org-
dc.relation.ispartofCancer Geneticsen_US
dc.subject.meshAcute Disease-
dc.subject.meshGene Rearrangement-
dc.subject.meshLeukemia - genetics-
dc.subject.meshMyelodysplastic Syndromes - genetics-
dc.subject.meshMyeloid-Lymphoid Leukemia Protein - genetics-
dc.titleA complex MLL rearrangement identified five years after initial MDS diagnosis results in out-of-frame fusions without progression to acute leukemiaen_US
dc.typeArticleen_US
dc.identifier.emailWan, TSK: wantsk@hku.hken_US
dc.identifier.emailChan, LC: chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cancergen.2011.10.001-
dc.identifier.pmid22137486-
dc.identifier.scopuseid_2-s2.0-84859237439-
dc.identifier.hkuros206246en_US
dc.identifier.volume204en_US
dc.identifier.issue10-
dc.identifier.spage557en_US
dc.identifier.epage562en_US
dc.identifier.isiWOS:000298068600005-
dc.publisher.placeUnited States-

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