Abstract
A bone marrow biopsy is essential for the initial diagnosis of AL amyloidosis. A bone marrow biopsy is also important in establishing a baseline for treatment and is one of the factors in predicting prognosis. The bone marrow biopsy can be used in assessing for the presence of amyloid, estimating the plasma cell volume, and determining whether a clonal amyloidogenic plasma cell population is present or not. In tandem with other studies, bone marrow biopsies can also be used to monitor treatment and assess for complete response, partial response, or no response to the various therapies being used in AL amyloidosis. A bone marrow aspirate can supplement the biopsy for use in flow cytometry in determining the presence of a clonal plasma cell population and for use in cytogenetics. With the precedent being set with multiple myeloma, greater understanding of cytogenetic abnormalities is being discovered in AL amyloidosis and may play a role in prognosis and treatment. The following chapter will discuss the workup that we employ in bone marrow biopsies from suspected or confirmed AL amyloidosis patients and some of the new discoveries being made in AL amyloidosis using bone marrow specimens.
Supported by National Institutes of Health, RO1AG031804 (L.H.C), the Young Family Amyloid Research Fund, and the Amyloid Research Fund at Boston University School of Medicine.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Swan N, Skinner M, O'Hara CJ. Bone marrow core biopsy specimens in AL (primary) amyloidosis. A morphologic and immunohistochemical study of 100 cases. Am J Clin Pathol. 2003;120:610–6.
Falk RH, Comenzo RL, Skinner M. The systemic amyloidosis. N Engl J Med. 1997;337:898–909.
Sungur C, Sungur A, Ruacan S, et al. Diagnostic value of bone marrow biopsy in patients with renal disease secondary to familiar Mediterranean fever. Kidney Int. 1993;44:834–6.
Hasserjian RP, Goodman HJ, Lachmann HJ, Muzikansky A, Hawkins PN. Bone marrow findings correlate with clinical outcome in systemic AL amyloidosis patients. Histopathology. 2007;50:567–73.
Perfetti V, Colli Vignarelli M, Anesi E, et al. The degrees of plasma cell clonality and marrow infiltration adversely influence the prognosis of AL amyloidosis patients. Haematologica. 1999;84:218–21.
Pardanani A, Witzig TE, Schroeder G, et al. Circulating peripheral blood plasma cells as a prognostic indicator in patients with primary systemic amyloidosis. Blood. 2003;101:827–30.
Beck RC, Tubbs RR, Hussein M, Pettay J, Hsi ED. Automated colorimetric in situ hybridization (CISH) detection of immunoglobulin (Ig) light chain mRNA expression in plasma cell (PC) dyscrasias and non-Hodgkin lymphoma. Diagn Mol Pathol. 2003;12:14–20.
Akar H, Seldin DC, Magnani B, et al. Quantitative serum free light chain assay in the diagnostic evaluation of AL amyloidosis. Amyloid. 2005;12:210–5.
Matsuda M, Gono T, Shimojima Y, Hoshii Y, Ikeda S. Phenotypic analysis of plasma cells in bone marrow using flow cytometry in AL amyloidosis. Amyloid. 2003;10:110–6.
Paiva B, Vidriales MB, Perez JJ, et al. The clinical utility and prognostic value of multiparameter flow cytometry immunophenotyping in light-chain amyloidosis. Blood. 2011;117:1–6.
Bergsagel PL, Kuehl WM, Zhan F, Sawyer J, Barlogie B, Shaugnessy J. Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma. Blood. 2005;106:296–303.
Hayman SR, Bailey RJ, Jalal SM, et al. Translocations involving the immunoglobulin heavy-chain locus are possibly early genetic events in patients with primary systemic amyloidosis. Blood. 2001;98:2266–8.
Harrison CJ, Mazzullo H, Ross FM, et al. Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. Br J Haematol. 2002;117:427–35.
Bochtler T, Hegenbart U, Cremer FW, et al. Evaluation of the cytogenetic aberration pattern in light chain amyloidosis as compared with monoclonal gammopathy of undetermined significance reveals common pathways of karyotypic instability. Blood. 2008;111:4700–5.
Bryce AH, Ketterling RP, Gertz MA, et al. Translocation t(11;14) and survival of patients with light chain (AL) amyloidosis. Haematologica. 2009;94:380–6.
Perfetti V, Coluccia AM, Intini D, et al. Translocation t(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. Am J Clin Pathol. 2001;158:1599–603.
Lee JC, Wu H, Prokaeva T, et al. Expression of D-type cyclins in AL amyloidosis plasma cells. J Clin Pathol. 2012;65:1052–5.
Fonseca R, Ahmann GJ, Jalal SM, et al. Chromosomal abnormalities in systemic amyloidosis. Br J Haematol. 1998;103:704–10.
Fonseca R, Harrington D, Oken M, et al. Myeloma and the t(11;14)(q13;q32) represents a uniquely defined biological subset of patients. Blood. 2002;99:3735–41.
Moreau P, Facon T, Leleu X, et al. Recurrent 14q32 translocations determine the prognosis of multiple myeloma, especially in patients receiving intensive chemotherapy. Blood. 2002;100:1579–83.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Lee, J.C., Connors, L.H., O’Hara, C.J. (2015). Bone Marrow Biopsy and Its Utility in the Diagnosis of AL Amyloidosis. In: Picken, M., Herrera, G., Dogan, A. (eds) Amyloid and Related Disorders. Current Clinical Pathology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-19294-9_26
Download citation
DOI: https://doi.org/10.1007/978-3-319-19294-9_26
Publisher Name: Humana Press, Cham
Print ISBN: 978-3-319-19293-2
Online ISBN: 978-3-319-19294-9
eBook Packages: MedicineMedicine (R0)