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

Cuenca, I. ; Alameda, D. ; Sanchez-Vega, B. ; Gomez-Sanchez, D. ; Alignani, D. ; Lasa, M. ; Onecha, E. ; Lecumberri, R. ; Prosper, F. ; Ocio, E.M. ; González, M.E. ; García de Coca, A. ; De La Rubia, J. ; Gironella, M. ; Palomera, L. (Universidad de Zaragoza) ; Oriol, A. ; Casanova, M. ; Cabañas, V. ; Taboada, F. ; Pérez-Montaña, A. ; De Arriba, F. ; Puig, N. ; Carreño-Tarragona, G. ; Barrio, S. ; Enrique de la Puerta, J. ; Ramirez-Payer, A. ; Krsnik, I. ; Bargay, J.J. ; Lahuerta, J.J. ; Mateos, M.V. ; San-Miguel, J.F. ; Paiva, B. ; Lopez, J.M.

Resumen: To the Editor:
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 immunohistochemistry or mass spectometry, and evidence of PC clonality were investigated. Patients’ demographics and clinical characteristics are described in Supplementary Table 1. PCs were collected and processed in triplicates followed by whole genome amplification of samples with genomic DNA amounts <50 ng (Supplementary Table 2). Afterwards, library construction, exome enrichment, and sequencing were performed individually. An overall average depth of 63× and mean on-target coverage of 84% were obtained. Data were deposited in the Sequence Read Archive of the NCBI (http://www.ncbi.nlm.nih.gov/sra) under the PRJNA596656 access number...

Idioma: Inglés

DOI: 10.1038/s41375-020-0800-6

Año: 2020

Publicado en: Leukemia 2020, 35 (2020), 245–249
ISSN: 0887-6924

Factor impacto JCR: 11.528 (2020)

Categ. JCR: ONCOLOGY rank: 23 / 242 = 0.095 (2020) - Q1 - T1
Categ. JCR: HEMATOLOGY rank: 5 / 76 = 0.066 (2020) - Q1 - T1

Factor impacto SCIMAGO: 4.538 - Anesthesiology and Pain Medicine (Q1) - Oncology (Q1) - Hematology (Q1) - Cancer Research (Q1)

Financiación: info:eu-repo/grantAgreement/ES/ISCIII/CIBERONC
Financiación: info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI13-02196
Financiación: info:eu-repo/grantAgreement/ES/MINECO-FEDER/ISCIII-CB16-12-00369
Financiación: info:eu-repo/grantAgreement/ES/MINECO-FEDER/ISCIII-CB16-12-00489

Tipo y forma: (Versión definitiva)

Área (Departamento): Area Medicina (Dpto. Medicina, Psiqu. y Derm.)