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Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis

Harrison, CJ; Mazzullo, H; Ross, FM; Cheung, KL; Gerrard, G; Harewood, L; Mehta, A; ... Orchard, KH; + view all (2002) Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. BRIT J HAEMATOL , 117 (2) 427 - 435.

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Abstract

Systemic monoclonal immunoglobulin light chain amyloidosis (AL) is associated with clonal plasma cell dyscrasias that are often subtle and non-proliferating. AL shares numerical chromosomal changes with multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS). Illegitimate translocations involving the immunoglobulin heavy chain gene (IGH ) at 14q32 and deletions of the long arm of chromosome 13, [del(13q)], commonly occur in MM, MGUS and plasma cell leukaemia. In AL IGH rearrangements have been identified but, to date, there are no reports of del(13q). In this study of 32 patients with AL, 24 with systemic and eight with localized disease, translocations involving IGH and del(13q) were found using dual-colour interphase fluorescence in situ hybridization (FISH). IGH translocations were observed in 11 patients (37% overall and in 46% with systemic disease), of which nine had the IGH/CCND1 fusion from t(11;14)(q13;q32). Two showed IGH translocations other than the t(11;14) or t(4;14)(p16;q32). In one of these patients a breakpoint within the constant region of IGH between Calpha1 and Calpha2 was indicated. In the second a deletion covering Calpha1 and Calpha2 accompanied the translocation. Ten patients (27% overall and 33% of those with systemic disease) showed del(13q). The gain or loss of IGH and CCND1 signals provided evidence of numerical chromosomal changes in three patients.

Type: Article
Title: Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis
Keywords: primary amyloidosis, fluorescence in situ hybridization, IGH rearrangements, 13q deletions, IN-SITU HYBRIDIZATION, PLASMA-CELL LEUKEMIA, MULTIPLE-MYELOMA, UNDETERMINED SIGNIFICANCE, MONOCLONAL GAMMOPATHY, PROGNOSTIC VALUE, FISH ANALYSIS, GENE, CYTOGENETICS, MONOSOMY-13
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: http://discovery.ucl.ac.uk/id/eprint/93041
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