ArticleBlood2020
Immunoglobulin variable domain high-throughput sequencing reveals specific novel mutational patterns in POEMS syndrome.
Article in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- International Myeloma Working Group Recommendations for the Diagnosis and Management of Solitary Plasmacytomas.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026Guideline
- Article
- POEMS Syndrome: 2026 Update on Diagnosis, Risk-Stratification, and Management.American journal of hematology · 2026Review
- Intratubular light chain amyloidosis: a comprehensive analysis of disease spectrum and clinicopathological characteristics.Clinical kidney journal · 2026Article
- Deciphering the full spectrum of Castleman diseases based on a cohort of 700 patients in a western country.British journal of haematology · 2026Article
- Teclistamab for heavily pretreated relapsed/refractory POEMS syndrome.Haematologica · 2026Article
- Lambda restricted light chain as pathogenic cause of POEMS syndrome: a review of the hypothesis.Frontiers in immunology · 2026Review
- 5'RACE Method for RNA-Based Sequencing of the Mouse Immunoglobulin Repertoire.Methods in molecular biology (Clifton, N.J.) · 2025Article
- RNA-Based High-Throughput Sequencing of the Human Immunoglobulin Repertoire.Methods in molecular biology (Clifton, N.J.) · 2025Article
- [POEMS syndrome. Report of three cases and literature review].Revista medica del Instituto Mexicano del Seguro Social · 2024Review
- Detection of clonal plasma cells in POEMS syndrome using multiparameter flow cytometry.Scientific reports · 2024Article
- SMaRT M-Seq: an optimized step-by-step protocol for M protein sequencing in monoclonal gammopathies.Biology methods & protocols · 2024Review
- Pulmonary manifestations of POEM syndrome: a retrospective analysis of 282 cases.BMC pulmonary medicine · 2023Article
- Article
- Attempts to evaluate locus suicide recombination and its potential role in B cell negative selection in the mouse.Frontiers in immunology · 2023Article
- Complete variable domain sequences of monoclonal antibody light chains identified from untargeted RNA sequencing data.Frontiers in immunology · 2023Article
- Role of the mechanisms for antibody repertoire diversification in monoclonal light chain deposition disorders: when a friend becomes foe.Frontiers in immunology · 2023Review
- De novo natural anti-M alloantibody emergence in severe Coronavirus Disease 2019.Journal of infection and public health · 2022Article
- Unraveling unique features of plasma cell clones in POEMS syndrome with single-cell analysis.JCI insight · 2022Article
- Comprehensive Characterization of Immune Landscape Based on Tumor Microenvironment for Oral Squamous Cell Carcinoma Prognosis.Vaccines · 2022Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a rare multisystem disease resulting from an underlying plasma cell (PC) dyscrasia. The pathophysiology of the disease remains unclear, but the role of the monoclonal immunoglobulin (Ig) light chain (LC) is strongly suspected because of the highly restrictive usage of 2 λ variable (V) domains (IGLV1-40 and IGLV1-44) and the general improvement of clinical manifestations after PC clone-targeted treatment. However, the diagnostic value of Ig LC sequencing, especially in the case of incomplete forms of the disease, remains to be determined. Using a sensitive high-throughput Ig repertoire sequencing on RNA (rapid amplification of cDNA ends-based repertoire sequencing [RACE-RepSeq]), we detected a λ LC monoclonal expansion in the bone marrow (BM) of 83% of patients with POEMS syndrome, including some in whom BM tests routinely performed to diagnose plasma cell dyscrasia failed to detect λ+ monoclonal PCs. Twenty-four (83%) of the 29 LC clonal sequences found were derived from the IGLV1-40 and IGLV1-44 germline genes, as well as 2 from the closely related IGLV1-36 gene, and all were associated with an IGLJ3*02 junction (J) gene, confirming the high restriction of VJ region usage in POEMS syndrome. RACE-RepSeq VJ full-length sequencing additionally revealed original mutational patterns, the strong specificity of which might crucially help establish or eliminate the diagnosis of POEMS syndrome in uncertain cases. Thus, RACE-RepSeq appears as a sensitive, rapid, and specific tool to detect low-abundance PC clones in BM and assign them to POEMS syndrome, with all the consequences for therapeutic options.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.