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Article: Acute lymphoblastic leukemia in a patient with fragile X syndrome: cytogenetic and molecular features.

TitleAcute lymphoblastic leukemia in a patient with fragile X syndrome: cytogenetic and molecular features.
Authors
Issue Date2003
Citation
Haematologica, 2003, v. 88 n. 4, p. ECR13 How to Cite?
AbstractMalignancies in patients with fragile X syndrome are rarely reported. A 42-year-old man with fragile X syndrome presented with precursor B-cell acute lymphoblastic leukemia (ALL). Cytogenetic analysis showed a stemline 46, XY,t(9;22)(q34;qll) and a sideline 46,XY, t(8;14)(q24;qll), t(9;22)(q34;qll). Molecular analysis of the FMR1 gene showed a neoplastic leukemic clone possessing a full expansion of the CGG repeat, with associated aberrant methylation of the promoter CpG islands. However, analysis during morphologic remission showed that the promoter CpG island was apparently unmethylated in the regenerating normal hematopoietic cells. During subsequent relapses, the FMRI CGG repeat was unstable, with the appearance of multiple leukemic subclones possessing different repeat expansions. Our case suggested that deregulation of the FMR1 gene might have contributed to leukemogenesis in our case.
Persistent Identifierhttp://hdl.handle.net/10722/163176
ISSN
2015 Impact Factor: 6.671
2015 SCImago Journal Rankings: 3.010

 

DC FieldValueLanguage
dc.contributor.authorAu, WYen_US
dc.contributor.authorMan, Cen_US
dc.contributor.authorPang, Aen_US
dc.contributor.authorKwong, YLen_US
dc.date.accessioned2012-09-05T05:28:26Z-
dc.date.available2012-09-05T05:28:26Z-
dc.date.issued2003en_US
dc.identifier.citationHaematologica, 2003, v. 88 n. 4, p. ECR13en_US
dc.identifier.issn0390-6078en_US
dc.identifier.urihttp://hdl.handle.net/10722/163176-
dc.description.abstractMalignancies in patients with fragile X syndrome are rarely reported. A 42-year-old man with fragile X syndrome presented with precursor B-cell acute lymphoblastic leukemia (ALL). Cytogenetic analysis showed a stemline 46, XY,t(9;22)(q34;qll) and a sideline 46,XY, t(8;14)(q24;qll), t(9;22)(q34;qll). Molecular analysis of the FMR1 gene showed a neoplastic leukemic clone possessing a full expansion of the CGG repeat, with associated aberrant methylation of the promoter CpG islands. However, analysis during morphologic remission showed that the promoter CpG island was apparently unmethylated in the regenerating normal hematopoietic cells. During subsequent relapses, the FMRI CGG repeat was unstable, with the appearance of multiple leukemic subclones possessing different repeat expansions. Our case suggested that deregulation of the FMR1 gene might have contributed to leukemogenesis in our case.en_US
dc.languageengen_US
dc.relation.ispartofHaematologicaen_US
dc.subject.meshAdulten_US
dc.subject.meshFragile X Mental Retardation Proteinen_US
dc.subject.meshFragile X Syndrome - Complications - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshNerve Tissue Proteins - Geneticsen_US
dc.subject.meshPrecursor Cell Lymphoblastic Leukemia-Lymphoma - Geneticsen_US
dc.subject.meshRna-Binding Proteinsen_US
dc.subject.meshTranslocation, Geneticen_US
dc.titleAcute lymphoblastic leukemia in a patient with fragile X syndrome: cytogenetic and molecular features.en_US
dc.typeArticleen_US
dc.identifier.emailKwong, YL:ylkwong@hku.hken_US
dc.identifier.authorityKwong, YL=rp00358en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.pmid12681986-
dc.identifier.scopuseid_2-s2.0-4544298521en_US
dc.identifier.hkuros77817-
dc.identifier.volume88en_US
dc.identifier.issue4en_US
dc.identifier.spageECR13en_US
dc.publisher.placeItalyen_US
dc.identifier.scopusauthoridAu, WY=7202383089en_US
dc.identifier.scopusauthoridMan, C=7005722377en_US
dc.identifier.scopusauthoridPang, A=7007044165en_US
dc.identifier.scopusauthoridKwong, YL=7102818954en_US

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