淀粉样变性

Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol. 2005 Aug;79(4):319-28.

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International Myeloma Working Group. Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group. Br J Haematol. 2003 Jun;121(5):749-57.

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Gertz MA, Lacy MQ, Dispenzieri A, et al. Amyloidosis: diagnosis and management. Clin Lymphoma Myeloma. 2005 Nov;6(3):208-19.

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Kyle RA, Therneau TM, Rajkumar SV, et al. A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med. 2002 Feb 21;346(8):564-9.

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Palladini G, Russo P, Nuvolone M, et al. Treatment with oral melphalan plus dexamethasone produces long-term remissions in AL amyloidosis. Blood. 2007 Jul 15;110(2):787-8.

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Wechalekar AD, Goodman HJ, Lachmann HJ, et al. Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. Blood. 2007 Jan 15;109(2):457-64.

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Dispenzieri A, Lacy MQ, Zeldenrust SR, et al. The activity of lenalidomide with or without dexamethasone in patients with primary systemic amyloidosis. Blood. 2007 Jan 15;109(2):465-70.

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1.  Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol. 2005 Aug;79(4):319-28.

• 摘要

2.  International Myeloma Working Group. Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group. Br J Haematol. 2003 Jun;121(5):749-57.

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3.  Westermark P, Benson MD, Buxbaum JN, et al. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid. 2005 Mar;12(1):1-4.

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4.  Bergesio F, Ciciani AM, Santostefano M, et al. Renal involvement in systemic amyloidosis - an Italian retrospective study on epidemiological and clinical data at diagnosis. Nephrol Dial Transplant. 2007 Jun;22(6):1608-18.

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5.  Quock TP, Yan T, Chang E, et al. Epidemiology of AL amyloidosis: a real-world study using US claims data. Blood Adv. 2018 May 22;2(10):1046-53.

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6.  National Cancer Institute: Surveillance, Epidemiology, and End Results Program. Cancer stat facts: myeloma. 10 Apr 2018 [internet publication].

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7.  Wadhera RK, Rajkumar SV. Prevalence of monoclonal gammopathy of undetermined significance: a systematic review. Mayo Clin Proc. 2010 Oct;85(10):933-42.

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8.  Landgren O, Weiss BM. Patterns of monoclonal gammopathy of undetermined significance and multiple myeloma in various ethnic/racial groups: support for genetic factors in pathogenesis. Leukemia. 2009 Oct;23(10):1691-7.

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9.  Hazenberg BP, van Rijswijk MH. Where has secondary amyloid gone? Ann Rheum Dis. 2000 Aug;59(8):577-9.

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10.  Bahlis NJ, Lazarus HM. Multiple myeloma-associated AL amyloidosis: is a distinctive therapeutic approach warranted? Bone Marrow Transplant. 2006 Jul;38(1):7-15.

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11.  Lachmann HJ, Goodman HJB, Gilbertson JA, et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356:2361-2371.

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12.  Comenzo RL, Zhou P, Fleisher M, et al. Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. Blood. 2006 May 1;107(9):3489-91.

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13.  Pozzi C, Locatelli F. Kidney and liver involvement in monoclonal light chain disorders. Semin Nephrol. 2002 Jul;22(4):319-30.

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14.  Gu M, Wilton R, Stevens FJ. Diversity and diversification of light chains in myeloma: the specter of amyloidogenesis by proxy. Contrib Nephrol. 2007;153:156-81.

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15.  Comenzo RL, Zhang Y, Martinez C, et al. The tropism of organ involvement in primary systemic amyloidosis: contributions of Ig V(L) germ line gene use and clonal plasma cell burden. Blood. 2001 Aug 1;98(3):714-20.

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16.  Merlini G, Pozzi C. Mechanisms of renal damage in plasma cell dyscrasias: an overview. Contrib Nephrol. 2007;153:66-86.

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17.  Perugini E, Rapezzi C, Reggiani LB, et al. Comparison of ventricular long-axis function in patients with cardiac amyloidosis versus idiopathic restrictive cardiomyopathy. Am J Cardiol. 2005 Jan 1;95(1):146-9.

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18.  Gertz MA, Lacy MQ, Dispenzieri A, et al. Amyloidosis: diagnosis and management. Clin Lymphoma Myeloma. 2005 Nov;6(3):208-19.

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19.  Shah KB, Inoue Y, Mehra MR. Amyloidosis and the heart: a comprehensive review. Arch Intern Med. 2006 Sep 25;166(17):1805-13.

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20.  Freeman R. Autonomic peripheral neuropathy. Lancet. 2005 Apr 2-8;365(9466):1259-70.

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21.  Kyle RA, Therneau TM, Rajkumar SV, et al. A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med. 2002 Feb 21;346(8):564-9.

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22.  Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1786-91.

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23.  Gertz MA, Lacy MQ, Dispenzieri A, et al. Amyloidosis. Best Pract Res Clin Haematol. 2005;18(4):709-27.

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24.  Neben-Wittich MA, Wittich CM, Mueller PS, et al. Obstructive intramural coronary amyloidosis and myocardial ischemia are common in primary amyloidosis. Am J Med. 2005 Nov;118(11):1287.

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25.  Morris KL, Tate JR, Gill D, et al. Diagnostic and prognostic utility of the serum free light chain assay in patients with AL amyloidosis. Intern Med J. 2007 Jul;37(7):456-63.

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26.  Gertz MA. The classification and typing of amyloid deposits. Am J Clin Pathol. 2004 Jun;121(6):787-9.

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27.  Koyama J, Ray-Sequin PA, Falk RH. Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis. Circulation. 2003 May 20;107(19):2446-52.

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28.  Weidemann F, Strotmann JM. Use of tissue Doppler imaging to identify and manage systemic diseases. Clin Res Cardiol. 2008 Feb;97(2):65-73.

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29.  Gillmore JD, Wechalekar A, Bird J, et al. Guidelines on the diagnosis and investigation of AL amyloidosis. Br J Haematol. 2015 Jan;168(2):207-18.

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30.  Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol. 1995 Jan;32(1):45-59.

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31.  Palladini G, Russo P, Bosoni T, et al. Identification of amyloidogenic light chains requires the combination of serum-free light chain assay with immunofixation of serum and urine. Clin Chem. 2009 Mar;55(3):499-504.

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32.  Dispenzieri A, Kyle RA, Gertz MA, et al. Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet. 2003 May 24;361(9371):1787-9.

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33.  Palladini G, Campana C, Klersy C, et al. Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis. Circulation. 2003 May 20;107(19):2440-5.

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34.  Zerbini CA, Anderson JJ, Kane KA, et al. Beta 2 microglobulin serum levels and prediction of survival in AL amyloidosis. Amyloid. 2002 Dec;9(4):242-6.

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35.  Rajkumar SV, Lacy MQ, Kyle RA. Monoclonal gammopathy of undetermined significance and smoldering multiple myeloma. Blood Rev. 2007 Sep;21(5):255-65.

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36.  Comenzo RL, Gertz MA. Autologous stem cell transplantation for primary systemic amyloidosis. Blood. 2002 Jun 15;99(12):4276-82.

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37.  Gertz MA, Lacy MQ, Dispenzieri A, et al. Transplantation for amyloidosis. Curr Opin Oncol. 2007 Mar;19(2):136-41.

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38.  Jaccard A, Moreau P, Leblond V, et al. High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. N Engl J Med. 2007 Sep 13;357(11):1083-93.

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39.  Mhaskar R, Kumar A, Behera M, et al. Role of high-dose chemotherapy and autologous hematopoietic cell transplantation in primary systemic amyloidosis: a systematic review. Biol Blood Marrow Transplant. 2009 Aug;15(8):893-902.

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40.  Gertz MA. Immunoglobulin light chain amyloidosis: 2014 update on diagnosis, prognosis, and treatment. Am J Hematol. 2014 Dec;89(12):1132-40.

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41.  Huang X, Wang Q, Chen W, et al. Induction therapy with bortezomib and dexamethasone followed by autologous stem cell transplantation versus autologous stem cell transplantation alone in the treatment of renal AL amyloidosis: a randomized controlled trial. BMC Med. 2014 Jan 6;12:2.

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42.  Sitia R, Palladini G, Merlini G. Bortezomib in the treatment of AL amyloidosis: targeted therapy? Haematologica. 2007 Oct;92(10):1302-7.

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43.  Kastritis E, Anagnostopoulos A, Roussou M, et al. Treatment of light chain (AL) amyloidosis with the combination of bortezomib and dexamethasone. Haematologica. 2007 Oct;92(10):1351-8.

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44.  Palladini G, Russo P, Nuvolone M, et al. Treatment with oral melphalan plus dexamethasone produces long-term remissions in AL amyloidosis. Blood. 2007 Jul 15;110(2):787-8.

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45.  Wechalekar AD, Goodman HJ, Lachmann HJ, et al. Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. Blood. 2007 Jan 15;109(2):457-64.

• 摘要

46.  Dispenzieri A, Lacy MQ, Zeldenrust SR, et al. The activity of lenalidomide with or without dexamethasone in patients with primary systemic amyloidosis. Blood. 2007 Jan 15;109(2):465-70.

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47.  Gertz MA, Lacy MQ, Lust JA, et al. Phase II trial of high-dose dexamethasone for untreated patients with primary systemic amyloidosis. Med Oncol. 1999 Jul;16(2):104-9.

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48.  Moreau P, Jaccard A, Benboubker L, et al. Lenalidomide in combination with melphalan and dexamethasone in patients with newly diagnosed AL amyloidosis: a multicenter phase 1/2 dose-escalation study. Blood. 2010 Dec 2;116(23):4777-82.

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49.  Reece DE, Sanchorawala V, Hegenbart U, et al; VELCADE CAN2007 Study Group. Weekly and twice-weekly bortezomib in patients with systemic AL amyloidosis: results of a phase 1 dose-escalation study. Blood. 2009 Aug 20;114(8):1489-97.

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50.  Kastritis E, Wechalekar AD, Dimopoulos MA, et al. Bortezomib with or without dexamethasone in primary systemic (light chain) amyloidosis. J Clin Oncol. 2010 Feb 20;28(6):1031-7.

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51.  Lamm W, Willenbacher W, Lang A, et al. Efficacy of the combination of bortezomib and dexamethasone in systemic AL amyloidosis. Ann Hematol. 2011 Feb;90(2):201-6.

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52.  Mahmood S, Venner CP, Sachchithanantham S, et al. Lenalidomide and dexamethasone for systemic AL amyloidosis following prior treatment with thalidomide or bortezomib regimens. Br J Haematol. 2014 Sep;166(6):842-8.

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53.  Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med. 2007 Oct;65(9):318-24.

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54.  Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016 Feb;29(suppl 1):S14-26.

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55.  Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013 Feb 20;8:31.

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56.  Tsuchiya A, Yazaki M, Kametani F, et al. Marked regression of abdominal fat amyloid in patients with familial amyloid polyneuropathy during long-term follow-up after liver transplantation. Liver Transpl. 2008 Apr;14(4):563-70.

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57.  Adams D, Gonzalez-Duarte A, O'Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018 Jul 5;379(1):11-21.

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58.  Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018 Jul 5;379(1):22-31.

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59.  Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012 Aug 21;79(8):785-92.

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60.  Barroso FA, Judge DP, Ebede B, et al. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid. 2017 Sep;24(3):194-204.

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61.  Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018 Sep 13;379(11):1007-16.

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62.  Greene MJ, Klimtchuk ES, Seldin DC, et al. Cooperative stabilization of transthyretin by clusterin and diflunisal. Biochemistry. 2015 Jan 20;54(2):268-78.

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63.  Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013 Dec 25;310(24):2658-67.

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64.  Cohen AD, Zhou P, Chou J, et al. Risk-adapted autologous stem cell transplantation with adjuvant dexamethasone ± thalidomide for systemic light-chain amyloidosis: results of a phase II trial. Br J Haematol. 2007 Oct;139(2):224-33.

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65.  ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015 Sep;74(9):1636-44.

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66.  Bodin K, Ellmerich S, Kahan MC, et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature. Nature. 2010 Nov 4;468(7320):93-7.

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67.  Sanchorawala V, Palladini G, Kukreti V, et al. A phase 1/2 study of the oral proteasome inhibitor ixazomib in relapsed or refractory AL amyloidosis. Blood. 2017 Aug 3;130(5):597-605.

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68.  Millennium Pharmaceuticals, Inc. Study of dexamethasone plus IXAZOMIB (MLN9708) or physicians choice of treatment in relapsed or refractory systemic light chain (AL) amyloidosis (NCT01659658). September 2018 [internet publication].

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69.  Kaufman GP, Schrier SL, Lafayette RA, et al. Daratumumab yields rapid and deep hematologic responses in patients with heavily pretreated AL amyloidosis. Blood. 2017 Aug 17;130(7):900-2.

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70.  Solomon A, Weiss DT, Wall JS. Therapeutic potential of chimeric amyloid-reactive monoclonal antibody 11-1F4. Clin Cancer Res. 2003 Sep 1;9(10 Pt 2):s3831-8.

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71.  Solomon A, Weiss DT, Wall JS. Immunotherapy in systemic primary (AL) amyloidosis using amyloid-reactive monoclonal antibodies. Cancer Biother Radiopharm. 2003 Dec;18(6):853-60.

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72.  Edwards CV, Gould J, Langer AL, et al. Analysis of the phase 1a/b study of chimeric fibril-reactive monoclonal antibody 11-1F4 in patients with relapsed or refractory AL amyloidosis. Amyloid. 2017 Mar;24(sup1):58-9.

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73.  Richards DB, Cookson LM, Berges AC, et al. Therapeutic clearance of amyloid by antibodies to serum amyloid P component. N Engl J Med. 2015 Sep 17;373(12):1106-14.

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74.  Gertz MA, Lacy MQ, Dispenzieri A, et al. Effect of hematologic response on outcome of patients undergoing transplantation for primary amyloidosis: importance of achieving a complete response. Haematologica. 2007 Oct;92(10):1415-8.

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75.  Dispenzieri A, Gertz MA, Kyle RA, et al. Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis. J Clin Oncol. 2004 Sep 15;22(18):3751-7.

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76.  Kumar S, Dispenzieri A, Lacy MQ, et al. Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol. 2012 Mar 20;30(9):989-95.

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77.  Dispenzieri A, Lacy MQ, Katzmann JA, et al. Absolute values of immunoglobulin free light chains are prognostic in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. Blood. 2006 Apr 15;107(8):3378-83.

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