Amyloidosis
Pathophysiology
The systemic amyloidoses: clearer understanding of molecular mechanisms offers hope for more effective therapies.
Merlini G, Westermark P.
J Intern Med. 2004;255:159-178.
Description: A detailed discussion of molecular mechanisms involved in amyloidogenesis.
PubMed citation number: 14746554
Functional gene expression analysis of clonal plasma cells identifies a unique molecular profile for light chain amyloidosis.
Abraham RS, Ballman KV, Dispenzieri A, et al.
Blood. 2005;105:794-803.
Description: A unique molecular profile is identified for patients with light chain amyloidosis, consisting of a subset of 12 genes causing dysregulation of multiple, potentially significant cellular pathways.
PubMed citation number: 15388584
Diagnosis
Electrocardiographic findings in primary systemic amyloidosis and biopsy-proven cardiac involvement
Murtagh B, Hammill SC, Gertz MA, Kyle RA, Tajik AJ, Grogan M.
Am J Cardiol. 2005;95:535-537.
Description: A review of electrocardiograms in 127 patients with biopsy-proven cardiac amyloidosis, outlining the most common abnormal EKG patterns in this disease. PubMed citation number: 15695149
Diagnostic performance of quantitative {kappa} and {lambda} free light chain assays in clinical practice.
Katzmann JA, Abraham RS, Dispenzieri A, Lust JA, Kyle RA.
Clin Chem. 2005;51:878-881.
Description: A validation of the diagnostic performance and sensitivity of the serum free light chain assay in over 1000 patients with bone marrow–derived monoclonal plasma cell disorders.
PubMed citation number: 15774572
Quantitative analysis of serum free light chains: a new marker for the diagnostic evaluation of primary systemic amyloidosis.
Abraham RS, Katzmann JA, Clark RJ, Bradwell AR, Kyle RA, Gertz MA.
Am J Clin Pathol. 2003;119:274-278.
Description: Initial, important retrospective study introducing the nephelometric quantitative free immunoglobulin light chain assay as a sensitive marker for monocolonal gammopathies in patients with negative serum and/or urine immunofixation results.
PubMed citation number: 12579999
Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis
Dispenzieri A, Gertz MA, Kyle RA, et al.
J Clin Oncol. 2004;22:3751-3757.
Description: A landmark paper establishing the prognostic role of 2 serum cardiac markers in stratification of amyloidosis patients, forming the basis for a new staging system.
PubMed citation number: 15365071
Treatment
The combination of thalidomide and intermediate-dose dexamethasone is an effective but toxic treatment for patients with primary amyloidosis (AL)
Palladini G, Perfetti V, Perlini S, et al.
Blood. 2005;105:2949-2951.
Description: A prospective study of a thalidomide-dexamethasone regimen in patients with systemic amyloidosis; demonstrating significant activity, though at the expense of moderate toxicities.
PubMed citation number: 15572585
Clinical efficacy of high-dose dexamethasone with maintenance dexamethasone/alpha interferon in patients with primary systemic amyloidosis: results of United States Intergroup Trial Southwest Oncology Group (SWOG) S9628
Dhodapkar MV, Hussein MA, Rasmussen E, et al: United States Intergroup Trial Southwest Oncology Group. Blood. 2004;104:3520-3526.
Description: Prospective, multicenter, single-arm study demonstrating efficacy (including improvement in end-organ function) of a high-dose dexamethasone regimen in systemic amyloidosis. No benefit was demonstrated with maintenance interferon alpha therapy.
PubMed citation number: 15308571
Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy.
Lachmann HJ, Gallimore R, Gillmore D, et al.
Br J Haematol. 2003;122:78-84.
Description: A prospective study identifying the serum free light chain assay as an early marker of response to therapy in patients with amyloidosis. A reduction of at least 50% in circulating free light chains was associated with a significant survival benefit.
PubMed citation number: 12823348
Review
Guidelines on the diagnosis and management of AL amyloidosis.
Guidelines Working Group of UK Myeloma Forum: British Committee for Standards in Haematology, British Society for Haematology.
Br J Haematol. 2004;125:681-700.
Description: A timely review of updated recommendations in the diagnosis and management of systemic amyloidosis, including updates on use of the serum immunoglobulin free light chain assay and emerging medical therapies.
PubMed citation number: 15180858
Amyloidosis and Waldenstrom’s macroglobulinemia
Gertz MA, Merlini G, Treon SP.
Hematology (Am Soc Hematol Educ Program). (2004):257-282.
Description: A concise review of diagnostic and therapeutic principles in systemic amyloidosis, including updates on autologous transplantation data and the use of thalidomide-based regimens.
PubMed citation number: 15561687