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Diffuse large B-cell lymphoma with TEL/ETV6 translocation.

Deborah W Sevilla1, Subhadra V Nandula, Adriana I Colovai

  • 1Department of Pathology, Columbia University, New York, NY 10032, USA.

Human Pathology
|November 11, 2008
PubMed
Summary
This summary is machine-generated.

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This study reports a rare case of diffuse large B-cell lymphoma with a complex karyotype, including a TEL gene rearrangement. This highlights the importance of cytogenetic analysis in diagnosing hematologic neoplasms.

Area of Science:

  • Hematology
  • Cytogenetics
  • Oncology

Background:

  • Cytogenetic abnormalities of chromosome 12p involving the TEL/ETV6 gene are common in various hematopoietic neoplasms.
  • While karyotypic aberrations of 12p are known in B-cell non-Hodgkin lymphoma, TEL rearrangements are infrequently reported.

Observation:

  • A case of diffuse large B-cell lymphoma with a complex karyotype, including t(9;12)(q22;p13) representing TEL rearrangement, is described.
  • Additional abnormalities included t(3;14)(q27;q32) affecting the BCL6 gene and del(6)(q13q23) leading to BLIMP1 loss.

Findings:

  • Fluorescence in situ hybridization confirmed the TEL gene rearrangement in the B-cell lymphoma.
  • The case demonstrates a rare association between B-cell non-Hodgkin lymphoma and TEL aberrations.

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Implications:

  • Accurate diagnosis of hematologic neoplasms requires correlating morphologic, phenotypic, and cytogenetic findings.
  • This case underscores the need for comprehensive cytogenetic analysis to detect rare genetic alterations.