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dc.contributor.authorBrito-Babapulle, V
dc.contributor.authorGruszka-Westwood, AM
dc.contributor.authorPlatt, G
dc.contributor.authorAndersen, CL
dc.contributor.authorElnenaei, MO
dc.contributor.authorMatutes, E
dc.contributor.authorWotherspoon, AC
dc.contributor.authorWeston-Smith, SG
dc.contributor.authorCatovsky, D
dc.date.accessioned2018-09-18T14:41:37Z
dc.date.issued2002-04
dc.identifier4
dc.identifier.citationHAEMATOLOGICA, 2002, 87 pp. 357 - 362
dc.identifier.issn0390-6078
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/2792
dc.description.abstractBackground and Objectives. A female patient presented with splenomegaly and lymphocytosis with atypical lymphoid cell morphology, We identified t(2;7)(p12;q21) prompting studies of the translocation breakpoint and its consequences on protein expression to confirm or otherwise the recently reported involvement of CDK6 and IG kappa genes in the t(2;7) leading to over-expression of CDK6 protein. Design and Methods. A variety of clinical and laboratory techniques including cell marker, cytogenetic and histologic studies were applied in order to establish the diagnosis. Fluorescence in situ hybridization (FISH) and Southern blotting were used for mapping the translocation breakpoint and Western blotting for assessing protein expression. Results. Immunophenotyping showed the presence of a B-cell population with strong expression of FMC7, CD22, CD79b, CD5 and K restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell nonHodgkin’s lymphoma was made. Karyotyping revealed a clone with t(2;7)(p12;q21-22). Evidence for clonal evolution with additional abnormalities including a deletion of the TP53 was present, We established by FISH and Southern blotting that the breakpoint on 7q21-22 fell in a region 66kb telomeric to the previously reported breakpoint for the t(2;7) and was the same as that observed in a t(7;21). CDK6 protein was over-expressed. The patient received alkylating agents and splenectomy and is alive but the lymphocytosis persists with evidence of disease progression. Interpretations and Conclusions. We have demonstrated that CDK6 expression is dysregulated even when the breakpoint on 7q21-22 is located 66kb upstream from the coding region. Interestingly, the precise assignment of the lymphoma type in our case was not possible even when the splenic histology was analyzed. (C)2002, Ferrata Storti Foundation.
dc.format.extent357 - 362
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/all-rights-reserved
dc.titleTranslocation t(2;7)(p12;q21-22) with dysregulation of the CDK6 gene mapping to 7q21-22 in a non-Hodgkin’s lymphoma with leukemia
dc.typeJournal Article
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2002-04
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfHAEMATOLOGICA
pubs.notesresearcherid-numbers: Andersen, Claus Lindbjerg/A-9217-2012 Andersen, Claus/C-1477-2017 orcid-numbers: Andersen, Claus Lindbjerg/0000-0002-7406-2103 Andersen, Claus/0000-0002-7406-2103 Gruszka, Alicja M/0000-0002-5359-0281 unique-id: ISI:000174775400006
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular Haematology (including Cytogenetics Group and Cell Markers)
pubs.volume87
pubs.embargo.termsNot known
icr.researchteamMolecular Haematology (including Cytogenetics Group and Cell Markers)en_US
dc.contributor.icrauthorCatovsky, Daniel
dc.contributor.icrauthorMatutes, Estella
dc.contributor.icrauthorGruszka-Westwood, Alicja


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