Present address: Cancer Sciences Division, Southampton General Hospital, Southampton, UK.
Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis
Article first published online: 25 APR 2002
British Journal of Haematology
Volume 117, Issue 2, pages 427–435, May 2002
How to Cite
Harrison, C. J., Mazzullo, H., Ross, F. M., Cheung, K. L., Gerrard, G., Harewood, L., Mehta, A., Lachmann, H. J., Hawkins, P. N. and Orchard, K. H. (2002), Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. British Journal of Haematology, 117: 427–435. doi: 10.1046/j.1365-2141.2002.03438.x
- Issue published online: 25 APR 2002
- Article first published online: 25 APR 2002
- Received 24 July 2001;accepted for publication 26 November 2001
- primary amyloidosis;
- fluorescence in situ hybridization;
- IGH rearrangements;
- 13q deletions
Summary. 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 Cα1 and Cα2 was indicated. In the second a deletion covering Cα1 and Cα2 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.