Publications Repository

Publications Repository

View item 
  •   Home
  • ICR Divisions
  • Clinical Studies
  • View item
  • Home
  • ICR Divisions
  • Clinical Studies
  • View item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Translocation t(2;7)(p12;q21-22) with dysregulation of the CDK6 gene mapping to 7q21-22 in a non-Hodgkin’s lymphoma with leukemia

Thumbnail
View/Open
Published version (135.7Kb)
Date
2002-04
ICR Author
Catovsky, Daniel
Matutes, Estella
Gruszka-Westwood, Alicja
Author
Brito-Babapulle, V
Gruszka-Westwood, AM
Platt, G
Andersen, CL
Elnenaei, MO
Matutes, E
Wotherspoon, AC
Weston-Smith, SG
Catovsky, D
Show allShow less
Type
Journal Article
Metadata
Show full item record
Abstract
Background 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.
URI
https://repository.icr.ac.uk/handle/internal/2792
Collections
  • Clinical Studies
  • Molecular Pathology
Research team
Molecular Haematology (including Cytogenetics Group and Cell Markers)
Language
eng
License start date
2002-04
Citation
HAEMATOLOGICA, 2002, 87 pp. 357 - 362

Browse

All of ICR repositoryICR DivisionsBy issue dateAuthorsTitlesPublication TypesThis collectionBy issue dateAuthorsTitlesPublication Types
  • Login
  • Registered office: The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP
    A Charity, Not for Profit. Company Limited by Guarantee.
    Registered in England No. 534147. VAT Registration No. GB 849 0581 02.