Contemporary classification diagnostic and prognosis of primary monoclonal gammopathies (paraproteinemias)
Authors:
A. Sakalová 1; D. Škultétyová 2; Z. Konečná 3; K. Weiglová 4; M. Hrubiško 1; M. Mistrík 5; L. Plank 6
Authors‘ workplace:
Katedra hematológie a transfuziológie Slovenskej zdravotníckej univerzity, Bratislava, 2Národný ústav srdcových a cievnych chorôb, Bratislava, 3Katedra Laboratórnej medicíny Slovenskej zdravotníckej univerzity, Bratislava, 4Medirex s. r. o., biochemické l
1
Published in:
Transfuze Hematol. dnes,16, 2010, No. 4, p. 193-201.
Category:
Comprehensive Reports, Original Papers, Case Reports
Overview
Since the first reports of Waldenström and others (1940), who introduced diagnostics of polyclonal and monoclonal gammopathies based on paper electrophoresis and immunoelectrophoresis and since largest clinical studies of Kyle and co-workers, the concept of primary monoclonal gammopathies has been presently broaded in itsę clinical importance also due to the increased knowledge in molecular genetics. While implementation of immunofixation and Freelite method into biochemical analysis shown major variability of immunoglobuline molecule, histochemical, immunophenotype, cytogenetic and DNA analyses confirmed polymorphisms of plasma cells and their precursors due to genetic and epigenetic factors. The aim of the presented article is to give information on current classification of monoclonal gammapathies, changes in the opinions on the group of monoclonal gammopathies of undetermined significance (MGUS) and malignant gammapathies (multiple myeloma (MM), Waldenström macroglobulinemia (WM), primary systemic AL amyloidosis, in malignant lymphomas). The risk of malignant transformation of MGUS into myeloma in case of paraproteinemia IgG, IgA and into WM in case of IgM, respectively, is highlighted. Biochemical diagnostics of paraproteinemias using Freelite method for kappa/lambda chains of Ig has gained great importance. While immunofixation can be used for precipitation of paraproteins with complete Ig molecule only, Freelite is able to demonstrate also the free chains not bound to IgH epitopes. Biochemical diagnostics of paraproteinemias has role in the early diagnosis of smoldering WM, smoldering, non-secretory and light-chain myeloma and AL amyloidosis. Freelite method was also implemented into the international diagnostic algorithms of these conditions. The following part of the article is aimed for presentation of our experience with diagnostics in cohort of 1182 malignant gammopathies in years 1990–2009 (995 patients with MM, 96 with smoldering myeloma, 58 with WM and 33 with systemic AL amyloidosis). Conclusion: Demonstration of paraprotein, that has incidence of 1–3 % in healthy population at age < 50 years and 7–15 % at age > 70 years has the role of premalignant factor.
Key words:
classification, monoclonal gammopathies, early diagnostics, paraproteinemias
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