Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis
Open Access
- 25 April 2002
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 117 (2), 427-435
- https://doi.org/10.1046/j.1365-2141.2002.03438.x
Abstract
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.Keywords
This publication has 39 references indexed in Scilit:
- Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosisBlood, 2001
- Translocation t(4;14)(p16.3;q32) Is a Recurrent Genetic Lesion in Primary AmyloidosisThe American Journal of Pathology, 2001
- Chromosome 13 abnormalities identified by FISH analysis and serum β2-microglobulin produce a powerful myeloma staging system for patients receiving high-dose therapyBlood, 2001
- Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13British Journal of Haematology, 2000
- 14q32 chromosomal translocations: a hallmark of plasma cell dyscrasias?The Hematology Journal, 2000
- An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and ArchitectureAmerican Journal of Human Genetics, 2000
- Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myelomaProceedings of the National Academy of Sciences of the United States of America, 1996
- Cytogenetic findings in 200 patients with multiple myelomaCancer Genetics and Cytogenetics, 1995
- Cytogenetic data in 41 patients with multiple myelomaCancer Genetics and Cytogenetics, 1994
- Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8; 14) translocation separate c-myc and the IgH locus up to several hundred kbHuman Molecular Genetics, 1992