© 2003 BMJ Publishing Group Ltd. & Association of Clinical Pathologists
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 Department of Haematology, Hospital Sant Pau, 08025 Barcelona, Spain
2 Department of Pathology, Hospital Sant Pau
Correspondence to:
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
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.
Keywords: mantle cell leukaemia; insertion; t(11; 14)(q13; q32); overexpression cyclin D1
Abbreviations: FISH, fluorescence in situ hybridisation; IgH, immunoglobulin heavy chain; PCR, polymerase chain reaction
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