Abstract
Light chain amyloidosis is one of the most common forms of systemic amyloidosis. The disease is caused by the misfolding and aggregation of immunoglobulin light chains to insoluble fibrils. These fibrils can deposit in different tissues and organs such as heart and kidney and cause organ impairments that define the clinical presentation. In this study, we present an overview of IGLV-IGLJ and IGLC germline utilization in 85 patients classified in three clinically important subgroups with dominant cardiac, renal as well as cardiac and renal involvement. We found that IGLV3 was the most frequently detected IGLV-family in patients with dominant cardiac involvement, whereas in renal patients IGLV1 were most frequently identified. For patients with dominant heart and kidney involvement IGLV6 was the most frequently detected IGLV-family. In more detailed analysis IGLV3-21 was observed as the most dominant IGLV-subfamily for patients with dominant heart involvement and IGLV1-44 as the most frequent IGLV-subfamily in the group of patients with dominant kidney involvement. For patients with dominant heart and kidney involvement IGLV6-57 was the most frequently detected IGLV-subfamily. Additionally, we were able to show an exclusive linkage between IGLJ1 and IGLC1 as well as between IGLJ2 and IGLC2 in the fully assembled IGL mRNA.
Highlights
With an incidence rate of 3–5 patients per million, light chain amyloidosis (AL) is the most common form of systemic amyloidosis (70%) [1]. It is classified as a clonal plasma cell (PC) disease characterized by an overproduction of free light chains (LCs), which misfold, aggregate and deposit in tissue in form of amyloid fibrils [2]
bone marrow (BM) was collected from 101 patients during the specified period
In five cases we were not able to detect any CD138+ PC. These were used for further LC analysis, since the Analysis of the complete lambda light chain germline usage in AL amyloidosis patients detection limit of the cell count is 2,5E+04 CD138+ PC and it is assumed that sufficient cells are still available for further molecular biological analysis
Summary
With an incidence rate of 3–5 patients per million, light chain amyloidosis (AL) is the most common form of systemic amyloidosis (70%) [1]. It is classified as a clonal plasma cell (PC) disease characterized by an overproduction of free light chains (LCs), which misfold, aggregate and deposit in tissue in form of amyloid fibrils [2]. Analysis of the complete lambda light chain germline usage in AL amyloidosis patients
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
