Clarifying immunoglobulin gene usage in systemic and localized immunoglobulin light-chain amyloidosis by mass spectrometry

Blood

Volumn 129, Issue 3, 2017, Pages 299-306

  Kourelis, Taxiarchis V ^a   Dasari, Surendra ^b   Theis, Jason D ^b   Ramirez Alvarado, Marina ^b   Kurtin, Paul J ^b   Gertz, Morie A ^a   Zeldenrust, Steven R ^a   Zenka, Roman M ^c   Dogan, Ahmet ^d   Dispenzieri, Angela ^a  

^a Division of Hematology   (United States)

^b Department of Health Sciences Research ^*  (United States)

^c MAYO CLINIC   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN G; IMMUNOGLOBULIN HEAVY CHAIN; IMMUNOGLOBULIN KAPPA CHAIN; IMMUNOGLOBULIN LIGHT CHAIN; IMMUNOGLOBULIN M; MESSENGER RNA;

ADULT; AGED; AL AMYLOIDOSIS; ARTICLE; BONE MARROW BIOPSY; COMPARATIVE STUDY; CONTROLLED STUDY; FAT PAD; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENOTYPE; HEART AMYLOIDOSIS; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN HEAVY CHAIN GENE; IMMUNOGLOBULIN LIGHT CHAIN GENE; IMMUNOGLOBULIN VARIABLE REGION; IMMUNOGLOBULIN VARIABLE REGION GENE IGKC; IMMUNOGLOBULIN VARIABLE REGION GENE IGLC; IMMUNOGLOBULIN VARIABLE REGION GENE KV1; IMMUNOGLOBULIN VARIABLE REGION GENE KV1 05; IMMUNOGLOBULIN VARIABLE REGION GENE KV1 16; IMMUNOGLOBULIN VARIABLE REGION GENE KV1 33; IMMUNOGLOBULIN VARIABLE REGION GENE KV1 39; IMMUNOGLOBULIN VARIABLE REGION GENE KV3 15; IMMUNOGLOBULIN VARIABLE REGION GENE KV3 20; IMMUNOGLOBULIN VARIABLE REGION GENE KV4 01; IMMUNOGLOBULIN VARIABLE REGION GENE LV1 40; IMMUNOGLOBULIN VARIABLE REGION GENE LV1 44; IMMUNOGLOBULIN VARIABLE REGION GENE LV1 47; IMMUNOGLOBULIN VARIABLE REGION GENE LV1 51; IMMUNOGLOBULIN VARIABLE REGION GENE LV2 08; IMMUNOGLOBULIN VARIABLE REGION GENE LV2 14; IMMUNOGLOBULIN VARIABLE REGION GENE LV2 23; IMMUNOGLOBULIN VARIABLE REGION GENE LV3 01; IMMUNOGLOBULIN VARIABLE REGION GENE LV3 19; IMMUNOGLOBULIN VARIABLE REGION GENE LV3 21; IMMUNOGLOBULIN VARIABLE REGION GENE LV6 57; KIDNEY AMYLOIDOSIS; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; LOCALIZED AL AMYLOIDOSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MOLECULAR PATHOLOGY; NON IMMUNOGLOBULIN HEAVY CHAIN; OVERALL SURVIVAL; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SYSTEMIC DISEASE; AMYLOIDOSIS; COMPLICATION; GENETICS; HEART DISEASE; IMMUNOGLOBULIN GENE; KIDNEY DISEASE; TANDEM MASS SPECTROMETRY;

AMYLOIDOSIS; GENES, IMMUNOGLOBULIN; HEART DISEASES; HUMANS; IMMUNOGLOBULIN LIGHT CHAINS; IMMUNOGLOBULIN VARIABLE REGION; KIDNEY DISEASES; TANDEM MASS SPECTROMETRY;

EID: 85019078470     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-10-743997     Document Type: Article

References (40)

1. Kumar SK, Rajkumar SV, Dispenzieri A, et al. Improved survival in multiple myeloma and the impact of novel therapies. Blood. 2008;111(5): 2516-2520.
2. Kumar SK, Gertz MA, Lacy MQ, et al. Recent improvements in survival in primary systemic amyloidosis and the importance of an early mortality risk score. Mayo Clin Proc. 2011;86(1): 12-18.
3. 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;22(18): 3751-3757.
4. Prokaeva T, Spencer B, Kaut M, et al. Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival. Arthritis Rheum. 2007;56(11):3858-3868.
5. Bellavia D, Abraham RS, Pellikka PA, et al. Utility of Doppler myocardial imaging, cardiac biomarkers, and clonal immunoglobulin genes to assess left ventricular performance and stratify risk following peripheral blood stem cell transplantation in patients with systemic light chain amyloidosis (Al). J Am Soc Echocardiogr. 2011;24(4):444-454.
6. Comenzo RL, Zhang Y, Martinez C, Osman K, Herrera GA. 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;98(3):714-720.
7. Abraham RS, Geyer SM, Price-Troska TL, et al. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). Blood. 2003;101(10):3801-3808.
8. Perfetti V, Casarini S, Palladini G, et al. Analysis of V(lambda)-J(lambda) expression in plasma cells from primary (AL) amyloidosis and normal bone marrow identifies 3r (lambdaIII) as a new amyloid-associated germline gene segment. Blood. 2002;100(3):948-953.
9. Perfetti V, Palladini G, Casarini S, et al. The repertoire of l light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44. Blood. 2012;119(1):144-150.
10. Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR III, Dogan A. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114(24): 4957-4959.
11. Dasari S, Theis JD, Vrana JA, et al. Proteomic detection of immunoglobulin light chain variable region peptides from amyloidosis patient biopsies. J Proteome Res. 2015;14(4):1957-1967.
12. Vrana JA, Theis JD, Dasari S, et al. Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics. Haematologica. 2014;99(7):1239-1247.
13. 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; 79(4):319-328.
14. Palladini G, Hegenbart U, Milani P, et al. A staging system for renal outcome and early markers of renal response to chemotherapy in AL amyloidosis. Blood. 2014;124(15):2325-2332.
15. Eng JK, McCormack AL, Yates JR. An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database. J Am Soc Mass Spectrom. 1994;5(11): 976-989.
16. Fenyö D, Beavis RC. A method for assessing the statistical significance of mass spectrometry-based protein identifications using general scoring schemes. Anal Chem. 2003;75(4):768-774.
17. Perkins DN, Pappin DJ, Creasy DM, Cottrell JS. Probability-based protein identification by searching sequence databases using mass spectrometry data. Electrophoresis. 1999;20(18): 3551-3567.
18. Warsame R, Kumar SK, Gertz MA, et al. Abnormal FISH in patients with immunoglobulin light chain amyloidosis is a risk factor for cardiac involvement and for death. Blood Cancer J. 2015; 5:e310.
19. Bochtler T, Hegenbart U, Kunz C, et al. Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study. Blood. 2016;128(4): 594-602.
20. Bochtler T, Hegenbart U, Kunz C, et al. Translocation t(11;14) is associated with adverse outcome in patients with newly diagnosed AL amyloidosis when treated with bortezomib-based regimens. J Clin Oncol. 2015;33(12):1371-1378.
21. Bodi K, Prokaeva T, Spencer B, Eberhard M, Connors LH, Seldin DC. AL-Base: a visual platform analysis tool for the study of amyloidogenic immunoglobulin light chain sequences. Amyloid. 2009;16(1):1-8.
22. Solomon A, Frangione B, Franklin EC. Bence Jones proteins and light chains of immunoglobulins. Preferential association of the V lambda VI subgroup of human light chains with amyloidosis AL (lambda). J Clin Invest. 1982;70(2):453-460.
23. Farner NL, Dörner T, Lipsky PE. Molecular mechanisms and selection influence the generation of the human V lambda J lambda repertoire. J Immunol. 1999;162(4):2137-2145.
24. Ozaki S, Abe M, Wolfenbarger D, Weiss DT, Solomon A. Preferential expression of human lambda-light-chain variable-region subgroups in multiple myeloma, AL amyloidosis, and Waldenström’s macroglobulinemia. Clin Immunol Immunopathol. 1994;71(2):183-189.
25. Mahmood S, Bridoux F, Venner CP, et al. Natural history and outcomes in localised immunoglobulin light-chain amyloidosis: a long-term observational study. Lancet Haematol. 2015;2(6):e241-e250.
26. Grogg KL, Aubry MC, Vrana JA, Theis JD, Dogan A. Nodular pulmonary amyloidosis is characterized by localized immunoglobulin deposition and is frequently associated with an indolent B-cell lymphoproliferative disorder. Am J Surg Pathol. 2013;37(3):406-412.
27. Kourelis TV, Nasr SH, Dispenzieri A, et al. Outcomes of patients with renal monoclonal immunoglobulin deposition disease. Am J Hematol. 2016;91(11):1123-1128.
28. Greenberg AJ, Rajkumar SV, Therneau TM, Singh PP, Dispenzieri A, Kumar SK. Relationship between initial clinical presentation and the molecular cytogenetic classification of myeloma. Leukemia. 2014;28(2):398-403.
29. Russo P, Palladini G, Foli A, et al. Liver involvement as the hallmark of aggressive disease in light chain amyloidosis: distinctive clinical features and role of light chain type in 225 patients. Amyloid. 2011;18(Suppl 1):92-93.
30. Kaplan B, Ramirez-Alvarado M, Sikkink L, et al. Free light chains in plasma of patients with light chain amyloidosis and non-amyloid light chain deposition disease. High proportion and heterogeneity of disulfide-linked monoclonal free light chains as pathogenic features of amyloid disease. Br J Haematol. 2009;144(5):705-715.
31. Stevens FJ. Four structural risk factors identify most fibril-forming kappa light chains. Amyloid. 2000;7(3):200-211.
32. Blancas-Mejía LM, Ramirez-Alvarado M. Systemic amyloidoses. Annu Rev Biochem. 2013;82:745-774.
33. Poshusta TL, Sikkink LA, Leung N, Clark RJ, Dispenzieri A, Ramirez-Alvarado M. Mutations in specific structural regions of immunoglobulin light chains are associated with free light chain levels in patients with AL amyloidosis. PLoS One. 2009; 4(4):e5169.
34. Ramirez-Alvarado M. Amyloid formation in light chain amyloidosis. Curr Top Med Chem. 2012; 12(22):2523-2533.
35. D’Souza A, Theis J, Quint P, et al. Exploring the amyloid proteome in immunoglobulin-derived lymph node amyloidosis using laser microdissection/tandem mass spectrometry. Am J Hematol. 2013;88(7):577-580.
36. Kaplan B, Martin BM, Boykov O, et al. Co-deposition of amyloidogenic immunoglobulin light and heavy chains in localized pulmonary amyloidosis. Virchows Archiv. 2005;447(4): 756-761.
37. Sethi S, Theis JD, Leung N, et al. Mass spectrometry-based proteomic diagnosis of renal immunoglobulin heavy chain amyloidosis. Clin J Am Soc Nephrol. 2010; 5(12):2180-2187.
38. Klein CJ, Vrana JA, Theis JD, et al. Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. Arch Neurol. 2011;68(2):195-199.
39. Taxiarchis Kourelis SD, Kurtin PJ, Ramirez-Alvarado M, et al. Immunoglobulin variable region family usage and outcomes of patients with systemic light chain amyloidosis [abstract]. Blood. 2014;124(21). Abstract 3402.
40. Kourelis TV, Kumar SK, Go RS, et al. Immunoglobulin light chain amyloidosis is diagnosed late in patients with preexisting plasma cell dyscrasias. Am J Hematol. 2014;89(11): 1051-1054.