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

Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis
Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis
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.
london, gene deletion, translocation, male, female, immunoglobulin, genetic, multiple myeloma, human, in situ hybridization, non-u.s.gov't
0007-1048
427-435
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Mazzullo, Helen
c7790e2b-8f95-4202-935c-05de5507f4e2
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Cheung, Kan L.
c3e2bd17-d17f-4809-9c10-7e9dd19abc1d
Gerrard, Gareth
89840fdd-6955-4565-9c75-e6ca296cce30
Harewood, Louise
79d54ed0-3ed3-48e0-9b58-8197f117fb45
Mehta, Atul
d90f3100-ddd5-4ba2-a162-dc5e9e89610e
Lachmann, Helen J.
f4048af8-bc05-46ce-b651-9138ef7059fd
Hawkins, Philip N.
0dfbe820-90ce-41a3-b8ec-74f0cf5912dd
Orchard, Kim H.
794654ab-d6cc-488a-ac11-c9217433c7a2
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Mazzullo, Helen
c7790e2b-8f95-4202-935c-05de5507f4e2
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Cheung, Kan L.
c3e2bd17-d17f-4809-9c10-7e9dd19abc1d
Gerrard, Gareth
89840fdd-6955-4565-9c75-e6ca296cce30
Harewood, Louise
79d54ed0-3ed3-48e0-9b58-8197f117fb45
Mehta, Atul
d90f3100-ddd5-4ba2-a162-dc5e9e89610e
Lachmann, Helen J.
f4048af8-bc05-46ce-b651-9138ef7059fd
Hawkins, Philip N.
0dfbe820-90ce-41a3-b8ec-74f0cf5912dd
Orchard, Kim H.
794654ab-d6cc-488a-ac11-c9217433c7a2

Harrison, Christine J., Mazzullo, Helen, Ross, Fiona M., Cheung, Kan L., Gerrard, Gareth, Harewood, Louise, Mehta, Atul, Lachmann, Helen J., Hawkins, Philip N. and Orchard, Kim H. (2002) Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. British Journal of Haematology, 117 (2), 427-435. (doi:10.1046/j.1365-2141.2002.03438.x).

Record type: Article

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.

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More information

Published date: 25 April 2002
Keywords: london, gene deletion, translocation, male, female, immunoglobulin, genetic, multiple myeloma, human, in situ hybridization, non-u.s.gov't

Identifiers

Local EPrints ID: 59812
URI: http://eprints.soton.ac.uk/id/eprint/59812
ISSN: 0007-1048
PURE UUID: 4f434a34-fe7b-4f6b-adeb-e249ea1d94e9
ORCID for Kim H. Orchard: ORCID iD orcid.org/0000-0003-2276-3925

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 10 Dec 2019 01:47

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