Published online 11 February 2009
Haematologica, Vol 94, Issue 3, 380-386 doi:10.3324/haematol.13369
Copyright © 2009 by Ferrata Storti Foundation
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Original Article

Translocation t(11;14) and survival of patients with light chain (AL) amyloidosis

Alan H. Bryce1, Rhett P. Ketterling2, Morie A. Gertz1, Martha Lacy1, Ryan A. Knudson2, Steven Zeldenrust1, Shaji Kumar1, Suzanne Hayman1, Francis Buadi1, Robert A. Kyle1, Philip R. Greipp1, John A. Lust1, Stephen Russell1, S. Vincent Rajkumar1, Rafael Fonseca3, Angela Dispenzieri1

1 Divison of Hematology, Mayo Clinic, Rochester, MN;
2 Division of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN and
3 Department of Hematology/Oncology, Mayo Clinic, Phoenix, AZ, USA

Correspondence: Angela Dispenzieri, M.D., Mayo Clinic, 200 First Street, S.W., Rochester, MN 55905, USA. E-mail:dispenzieri.angela{at}mayo.edu

Background: Light chain amyloidosis is a rare plasma cell dyscrasia. Interphase fluorescence in situ hybridization (FISH) coupled to cytoplasmic staining of specific Ig (cIg-FISH) on bone marrow plasma cells has become well established in the initial evaluation of multiple myeloma, a related disorder. Little, however, is known about cytogenetic abnormalities in patients with light chain amyloidosis.

Design and Methods: We reviewed 56 patients with light chain amyloidosis who had cIg-FISH performed as part of their routine clinical testing using the standard screening panel employed in multiple myeloma at our institution.

Results: Seventy percent of patients had abnormal cIg-FISH, with the most common abnormalities being IgH translocations [48%] – including t(11;14) [39%], and t(14;16) [2%] – and del13/del13q [30%]. No t(4;14) or deletions of 17p (p53) were observed. Patients with t(11;14) had the lowest levels of clonal plasma cells, and those with del13 had the highest. The risk of death for patients harboring the t(11;14) translocation was 2.1 (CI 1.04–6.4), which on multivariate analysis was independent of therapy.

Conclusions: Although preliminary, our data would suggest that cIg-FISH testing is important in patients with light chain amyloidosis and that t(11;14) is an adverse prognostic factor in these patients.

Key words: amyloidosis, cIg-FISH, t(11;14).