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Immunogenetic characterization of clonal plasma cells in systemic light-chain amyloidosis

2020; Springer Nature; Volume: 35; Issue: 1 Linguagem: Inglês

10.1038/s41375-020-0800-6

1476-5551

Isabel Cuenca, Daniel Alameda, Beatriz Sánchez-Vega, David Gómez-Sánchez, Diego Alignani, Marta Lasa, Esther Onecha, Ramón Lecumberri, Felipe Prósper, Enrique M. Ocio, María E. González, Alfonso García de Coca, Javier de la Rubia, Mercedes Gironella, Luis Palomera, Albert Oriol, María Casanova, Valentín Cabañas, Francisco Taboada, Albert Pérez-Montaña, Felipe de Arriba, Noemí Puig, Gonzalo Carreño‐Tarragona, Santiago Barrio, José Enrique de la Puerta, Ángel Ramírez-Payer, Isabel Krsnik, Juan Bargay, Juan José Lahuerta, María‐Victoria Mateos, Jesús F. San Miguel, Bruno Paiva, Joaquín Martínez‐López,

Drug Transport and Resistance Mechanisms

Sequence-based analysis has come to play an integral role in many hematological malignancies [1], but disorders such as systemic light-chain (AL) amyloidosis remain poorly characterized due to its low incidence and small tumor size [2,3].Thus, greater knowledge about the immunogenetic landscape of AL amyloidosis is required since, for example, potential differences between the genomic profiles of AL amyloidosis and multiple myeloma (MM) could help identifying patients with monoclonal gammopathies at greater risk of developing AL amyloidosis and monitor presymptomatic organ damage [4,5].To gain further insight into the immunogenetic landscape of AL amyloidosis, we performed whole-exome sequencing (WES) on highly purified bone marrow clonal plasma cells (PCs) isolated by fluorescence activation cell sorting (FACS) based on patient-specific aberrant phenotypes.A total of 27 patients with confirmed new diagnosis of AL amyloidosis based on the presence of amyloid-related systemic syndrome, positive amyloid tissue staining with Congo red, restricted light-chain deposition by