Insertion of the CCND1 gene into the IgH locus in a case of leukaemic small cell mantle lymphoma with normal chromosomes 11 and 14.
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.
D014408:Biomarkers, Tumor / Q000032:analysis; D001854:Bone Marrow Cells / Q000737:chemistry / Q000473:pathology; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D019938:Cyclin D1 / Q000032:analysis / Q000235:genetics*; D020732:Cytogenetic Analysis; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D017254:Leukemic Infiltration; D020522:Lymphoma, Mantle-Cell / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional
D014408:Biomarkers, Tumor; D007143:Immunoglobulin Heavy Chains; D019938:Cyclin D1