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J Clin Pathol 2003;56:798-800 doi:10.1136/jcp.56.10.798
  • Case report

Insertion of the CCND1 gene into the IgH locus in a case of leukaemic small cell mantle lymphoma with normal chromosomes 11 and 14

  1. A Aventín1,
  2. J Nomdedéu1,
  3. J Briones1,
  4. I Espinosa2,
  5. R Bordes2,
  6. J Sierra1
  1. 1Department of Haematology, Hospital Sant Pau, 08025 Barcelona, Spain
  2. 2Department of Pathology, Hospital Sant Pau
  1. Correspondence to:
 Dr A Aventín, Department of Haematology, Hospital Sant Pau, Avda. Sant Antoni Ma Claret, 167, 08025 Barcelona, Spain;
 aaventin{at}hsp.santpau.es
  • Accepted 13 May 2003

Abstract

The t(11;14)(q13;q32) translocation is considered to be the cytogenetic hallmark of mantle cell lymphoma. This report describes a case of leukaemic mantle cell lymphoma in which conventional cytogenetics on stimulated peripheral blood cells showed a 46,XY, t(1;12)(p21;q23)/46,XY karyotype. Fluorescence in situ hybridisation analysis using a dual colour immunoglobulin heavy chain (IgH)/CCND1 probe showed a fusion hybridisation signal on one normal chromosome 14, indicating that an insertion of the CCND1 gene into the 14q32/IgH locus had taken place. Overexpression of the cyclin D1 protein was demonstrated on bone marrow trephine by immunohistochemical staining.

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