Study

Exome Sequencing to Define the Landscape of Plasma Cells in Systemic Light chain Amyloidosis

Study ID Alternative Stable ID Type
EGAS00001001418 Other

Study Description

Systemic light chain amyloidosis (AL) is characterized by the deposition of immunoglobulin light chains as amyloid fibrils in different organs, where they form toxic protein aggregates. The underlying disease is a plasma cell disorder, but limited whole exome data are available. We report the findings of an exome sequencing study in AL to define a plasma cell signature and compare this to monoclonal gammopathy of undefined significance (MGUS) and myeloma (MM). Twenty-four samples from unselected newly diagnosed untreated AL patients were analysed. CD138+ cells were isolated from bone marrow cells using MACSorting (Miltenyi Biotech, Bisley, UK). Cells were lysed in RLT+ buffer and DNA/RNA extracted using the AllPrep kit (Qiagen, Manchester, UK). Peripheral blood was isolated from patients, white blood cells purified by Ficoll-Pacque and DNA extracted using the QIAamp DNA mini kit (Qiagen). There were a median of 47 acquired nonsynonymous variants (range 4-253) per patient. Thirty percent of patients yielded a mutation in a myeloma driver gene. These mutations were either clonal or ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001861
Exome Sequencing to Define the Landscape of Plasma Cells in Systemic Light chain Amyloidosis
Illumina HiSeq 2000 48

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There are no publications available