Blood: High-throughput sequencing of immunoglobulin variable domainreveals reveals specific mutation map of POEMS syndrome

POEMS syndrome is a rare multi-system disease caused by plasma cell (PC) disorderthe pathophysiological physiology of the disease remainsHowever, the role of monoclonal immunoglobulin (Ig) light chain (LC) in the disease is strongly suspected because its height limits the use of two variable (V) domains (IGLV1-40 and IGLV1-44) and the overall improvement in clinical performance after PC cloning targeted therapyHowever, the diagnostic value of Ig LC sequencing, especially when the form of the disease is not complete, is still to be exploredthrough highly sensitive Ig full-spectrum RNA high-throughput sequencing (RACE-RepSeq), the researchers detected a single-clone amplification of the celiac LC in the bone marrow (BM) of 83% of patients with POEMS syndrome, including some patients who failed to detect a single cloned PC in routine diagnostic tests for human bone marrow cell disordersof 24 (83%) of the 29 cases of LC monoclonal sequencing came from IGLV1-40 and IGLV1-44 embryo genes, and two cases from the closely related IGLV1-36 gene, all related to the IGLJ3 x 02 (J) gene, confirming the highly restrictive application of VJ region in POEMS syndromeRACE-RepSeq VJ full-length sequencing also additionally reveals the original mutation map, a strong specificity that may be important in the diagnosis of POEMS syndrome in the identification or elimination of uncertain cases, RACE-RepSeq is a highly sensitive, fast and specific tool for detecting PC low-abundance cloning in BM, which can be used in the diagnosis of POEMS syndrome to guide treatment decision-making