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Abstract: SA-PO242

Single-Cell Sequencing Analysis of Paired Peripheral Blood Mononuclear Cell (PBMC) and Bone Marrow Mononuclear Cell (BMMC) Samples from Amyloidosis (AL) Patients

Session Information

Category: Onconephrology

  • 1700 Onconephrology


  • He, Weiting, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, China

Systemic light chain amyloidosis (AL) is the most common type of systemic amyloidosis. It has a variety of clinical manifestations and can involve multiple organs, kidney and heart are the most commonly affected organs. The diagnosis of AL depends on the presence of amyloid deposition of immunoglobulin light chain or heavy light chain as a precursor protein confirmed by biopsy, the existence of monoclonal immunoglobulin or free light chain in blood or urine, or the monoclonal plasma cells /B cells found in bone marrow examination. Previous studies have confirmed that single-cell sequencing is helpful to explore the pathogenesis of AL. Here, we performed single cell sequencing in AL patients with renal damage, and explored the specific clones and molecular characterization.


In this study, paired peripheral blood mononuclear cell (PBMC) and bone marrow mononuclear cell (BMMC) of 5 newly diagnosed AL patients and 3 healthy controls from Guangdong Provincial People's Hospital from March 2022 to June 2022 were collected. Single-cell sequencing and single cell repertoire sequencing were used to performed. Differentially expressed genes were obtained, and the related biological pathways were explored by GO and KEGG enrichment analysis.


κ light chain (n=4) and λ light chain (n=1) were included in the 5 AL patients. UMAP map showed that AL patients had different expression patterns and contained more plasma B cells. GO and KEGG analysis showed that most of the marker genes were enriched in infection and binding related pathways. 274 differentially expressed genes were found between IGK and IGL cells. Using immune repertoire as comparison, specific clones were found such as the variable region of antibody V1-33 in subject AL2 was significantly expanded clones. Furthermore, the top five up-regulated genes were RHOB, CTSW, HSPA5, KRTCAP2 and MZB1, while the top five down-regulated genes were BTG1, CD79A, CD37, HLA-DRB1 and JUND.


Single-cell sequencing and single-cell immune repertoire sequencing revealed that AL patients contained more plasma B cells than healthy controls, most of the marker genes were enriched in infection and binding related pathways, and specific clonal amplification was found in some AL patients. The sequencing results can provide theoretical basis for the discovery of diagnostic biomarkers in AL patients with kidney damage in the future.