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

Vasantha Brito-Babapulle, Alicja M. Gruszka-Westwood, Georgina Platt, Claus L. Andersen, Manal O. Elnenaei, Estella Matutes, Andrew C. Wotherspoon, Simon G. Weston-Smith, Daniel Catovsky

Research output: Contribution to journalArticle

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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 κ 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 κ restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell non-Hodgkin'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.

Original languageEnglish
Pages (from-to)357-362
Number of pages6
JournalHaematologica
Volume87
Issue number4
Publication statusPublished - 2002

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Cyclin-Dependent Kinase 6
Lymphocytosis
Chromosome Mapping
Southern Blotting
Fluorescence In Situ Hybridization
Non-Hodgkin's Lymphoma
Leukemia
Clonal Evolution
Immunophenotyping
Karyotyping
B-Cell Antigen Receptors
Clinical Laboratory Techniques
Alkylating Agents
Splenomegaly
B-Cell Lymphoma
Splenectomy
Cytogenetics
Disease Progression
Lymphoma
Histology

Keywords

  • Atypical SMZL
  • CDK6
  • p53 deletion
  • t(2;7)(p12;q21-22)

ASJC Scopus subject areas

  • Hematology

Cite this

Brito-Babapulle, V., Gruszka-Westwood, A. M., Platt, G., Andersen, C. L., Elnenaei, M. O., Matutes, E., ... Catovsky, D. (2002). 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. Haematologica, 87(4), 357-362.

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. / Brito-Babapulle, Vasantha; Gruszka-Westwood, Alicja M.; Platt, Georgina; Andersen, Claus L.; Elnenaei, Manal O.; Matutes, Estella; Wotherspoon, Andrew C.; Weston-Smith, Simon G.; Catovsky, Daniel.

In: Haematologica, Vol. 87, No. 4, 2002, p. 357-362.

Research output: Contribution to journalArticle

Brito-Babapulle, V, Gruszka-Westwood, AM, Platt, G, Andersen, CL, Elnenaei, MO, Matutes, E, Wotherspoon, AC, Weston-Smith, SG & Catovsky, D 2002, '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', Haematologica, vol. 87, no. 4, pp. 357-362.
Brito-Babapulle, Vasantha ; Gruszka-Westwood, Alicja M. ; Platt, Georgina ; Andersen, Claus L. ; Elnenaei, Manal O. ; Matutes, Estella ; Wotherspoon, Andrew C. ; Weston-Smith, Simon G. ; Catovsky, Daniel. / 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. In: Haematologica. 2002 ; Vol. 87, No. 4. pp. 357-362.
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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 κ 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 κ restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell non-Hodgkin'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.",
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AU - Brito-Babapulle, Vasantha

AU - Gruszka-Westwood, Alicja M.

AU - Platt, Georgina

AU - Andersen, Claus L.

AU - Elnenaei, Manal O.

AU - Matutes, Estella

AU - Wotherspoon, Andrew C.

AU - Weston-Smith, Simon G.

AU - Catovsky, Daniel

PY - 2002

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N2 - 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 κ 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 κ restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell non-Hodgkin'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.

AB - 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 κ 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 κ restricted surface immunoglobulins. Based on morphology and immunophenotypic markers the diagnosis of B-cell non-Hodgkin'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.

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